The theory of central places and the hierarchy of settlements. Postulates of the classical theory of central places. Hierarchy of Center Places

The specificity of a person as a genetic object is reflected in the set of methods that are used in human genetics.

Comes to the first place genealogical method , or the method of pedigrees, which involves tracing a disease or pathological sign in a family or clan, indicating the type of relationship between members of the pedigree. This is one of the oldest and most widely used methods. The method is applicable if the direct maternal and paternal relatives of the owner of the studied trait are known in a number of generations. Collecting information starts from proband, which is the name of the person who first came into the field of view of the researcher. Usually this is a patient or a carrier of some kind of mutation. Children of one parental couple (brothers and sisters) are called siblings... The method is used in establishing the hereditary nature of the trait under study, in determining the type of inheritance, the presence of adhesion, in medical and genetic counseling, etc.

Rules for compiling pedigrees

1. The pedigree is depicted so that each generation is on its own horizontal or radius (for extensive pedigrees). Generations are numbered in Roman numerals, and members of the pedigree are numbered in Arabic.

2. Compilation of the pedigree starts from the proband. Place the symbol of the proband (depending on gender - a square or a circle indicated by an arrow) so that you can draw a pedigree from it both up and down.

3. First, next to the proband, place the symbols of his siblings in birth order (from left to right), connecting them with a graphic beam.

4. Above the proband line, indicate the parents by connecting them to each other with a marriage line.

5. On the line (radius) of the parents, draw the symbols of the closest relatives and their spouses, connecting their degrees of kinship, respectively.

6. On the line of the proband, indicate his cousins, etc. brothers and sisters, connecting them appropriately with the parental line.

7. Above the line of the parents, draw the line of grandparents.

8. If the proband has children or nephews, place them on the line below the proband.

9.After the image of the pedigree (or simultaneously with it), appropriately show the owners or heterozygous carriers of the trait (most often, heterozygous carriers are determined after the compilation and analysis of the pedigree).

10. Indicate, if possible, the genotypes of all members of the pedigree.

11. If there are several hereditary diseases in the family that are not related to each other, make up the pedigree share of each disease separately.

Pedigree analysis

When analyzing pedigrees, a number of features should be taken into account. different types inheritance of traits. Inheritance types:

ü Autosomal dominant inheritance - inheritance of dominant traits that are not sex-linked. Such signs are often found in the pedigree, in almost all generations, equally often in representatives of both sexes; if the carrier is one of the parents, then the trait is manifested either in all descendants, or in half. According to this type, dwarfism, the presence of freckles, six-fingeredness, myopia, etc. are inherited.

ü Autosomal recessive inheritance - inheritance, in which non-sex-linked traits are phenotypically manifested only in homozygotes for recessive alleles. The symptom is rare, not in all generations, equally often in both sexes; the trait can appear in children, even if the parents do not have this trait; if one of the parents is a carrier of the trait, then the trait will either not appear in children, or it will appear in half of the offspring. This is how diabetes mellitus, some forms of schizophrenia, red hair, negative Rh factor, etc. are inherited.

Often autosomal recessive inheritance of the trait manifests itself in the case of consanguineous marriages

ü Dominant X-linked inheritance - the trait is more common in females, since they can inherit it with equal probability from both the father and the mother, and men can only inherit it from their mothers. If the mother is sick, and the father is healthy, then the trait is transmitted to the offspring, regardless of gender, and can manifest itself in both boys and girls. If the mother is healthy and the father is sick, then all the daughters will have the symptom, but the sons will not. Darkening of tooth enamel, etc.

ü Recessive X-linked inheritance - the sign is more common in males, usually manifests itself after a generation; if both parents are healthy, but the mother is heterozygous, then the symptom is often manifested in 50% of the sons; if the father is sick, and the mother is heterozygous, then females can also become owners of the trait. Hemophilia, color blindness, etc.

ü Y-linked inheritance - the sign is found only in males; if a father bears a trait, then, as a rule, all his sons have this trait. Hypertrichosis, etc.

Mitochondrial or cytoplasmic inheritance – it is the inheritance of genes localized in mitochondrial DNA. The features of this type of inheritance are determined by the fact that mitochondria in human cells are always of maternal origin, since they enter the zygote only with the cytoplasm of the egg (the sperm head is practically devoid of cytoplasm and cytoplasmic structures). Mitochondrial DNA contains several thousand genes. Mutations in these genes lead to the development of a fairly serious diseases nervous, muscular system and sense organs, which make up a special group of human pathology - mitochondrial diseases.
The following features are characteristic of mitochondrial inheritance:The disease is transmitted only from the mother; bboth boys and girls are deserted; bSingle fathers do not transmit disease to their daughters or sons.

Mitochondrial diseases include: Leber optic atrophy, progressive ophthalmoplegia, Zellweger syndrome, Kearns-Sayr syndrome, mitochondrial myopathy, etc.

One of the universal and most commonly used methods in human genetics is genealogical.

Genealogical method - compilation of genealogies and studies of the inheritance of a certain trait in a number of generations.

This method allows solving the following theoretical and applied problems:

There is an investigated trait hereditary (if it is present in relatives)

Type and nature of inheritance (dominant or recessive, autosomal or sex-linked)

Zygosity of persons of pedigree (hetero- or homozygous)

The frequency or likelihood of the phenotypic manifestation of the gene;

The likelihood of having a child with a hereditary pathology.

The genealogical method provides for the following research stages: collecting data on all relatives of the subject, drawing up a pedigree, analyzing the pedigree and making conclusions.

Collection of data on all relatives of the subject

Pedigree, as a rule, is composed according to one or several characteristics. Depending on the purpose of the study, the pedigree can be complete or partial, but it is better to make the most complete pedigree in ascending, descending and lateral directions. The complexity of data collection lies in the fact that the examined carrier of the trait (proband) must know well his relatives and the state of their health along the lines of the mother and father for at least three generations, this happens very rarely. However, the survey is usually not enough. Some members of the pedigree have to order a full medical examination to clarify their state of health.

drawing up a pedigree

To compile pedigrees, symbols are used (Fig. 3.1).

Rice. 3.1.

It is necessary to adhere to certain rules: drawing up a pedigree begins with a proband, each generation on the left is numbered in Roman numerals, symbols denoting individuals of one generation are placed horizontally and numbered in Arabic numerals in the order of their birth. The basis of the pedigree is the proband, from which the genetic study of the family begins.

Analysis of the pedigree. First of all, the nature of the trait under study is determined. If this trait manifests itself in a number of generations, then we can assume that it has a hereditary nature. After that, it is necessary to determine the type of inheritance of the trait. To do this, they use the techniques of genetic analysis, as well as various statistical methods for processing data from many genealogies.

Genetic analysis of pedigrees allows us to identify simple types of inheritance of traits - autosomal dominant, autosomal recessive and sex-linked.

Autosomal dominant inheritance characterized by the fact that the gene of the trait under study is contained in a certain autosome and manifests itself in both homozygous and heterozygous states. In the pedigree, it is determined by the following properties: the studied trait is present in each generation, regardless of gender, the manifestation of the trait is also observed horizontally - in brothers and sisters (Fig. 3.2).

Rice. 3.2. A genus with an autosomal dominant type of inheritance (brachydactyly, or short-fisted)

Depending on the zygosity of the parents for the alleles that control the trait, the birth of children with an autosomal dominant trait may have the following probability:

100%, if at least one of the parents is homozygous for the dominant allele;

75% if both parents are heterozygous;

50% if one of the parents is heterozygote and the other is homozygous for the recessive allele.

Autosomal dominant traits are clearly manifested only under the condition of homozygosity. In heterozygotes, there is an intermediate phenotype for the studied trait. If this is a disease, then in the case of heterozygosity, it may not manifest itself in every generation.

By autosomal recessive inheritance the gene of the trait under study is located in the autosome, and exerts its effect only in the homozygous state. This type of inheritance is characterized by the following features: the studied trait is not present in every generation, a child with the trait can be born to parents who do not have it (heterozygous parents), the trait occurs with the same frequency regardless of gender and is observed horizontally (Fig, 3.3).

Rice. 3.3. An autosomal recessive genus (albinism)

The probability of inheriting an autosomal recessive trait, depending on the zygosity of the parents for the alleles that control the trait, may be as follows:

25% if both parents are heterozygous;

50%, if one of the parents is heterozygote, and the other is homozygous for this recessive gene;

100% if both parents are homozygous for the recessive allele.

In the case of a hereditary disease of an autosomal recessive type, the probability of inheritance is 25%. Such patients either do not live to the onset of puberty, or do not marry.

Gender-linked inheritance can be X-linked dominant, X-linked recessive and B-linked. This means that the gene that controls the trait under study is contained in the sex chromosomes - X or Y.

1. X-linked dominant type of inheritance. It has the following properties: women with this trait are twice as many as men; the sign manifests itself in every generation; the father who carries the trait passes it on to all daughters, but does not pass it on to his sons; a mother with a trait can pass it on to half of her children, regardless of gender; in children, the sign will appear when at least one of the parents carries it; children of parents deprived of signs are also without it. An example of such a sign may be the brown color of the enamel of the teeth (Fig. 3.4).

Rice. 3.4. A genus with an X-linked dominant type of inheritance (brown color of the enamel of the teeth)

2. X-linked recessive inheritance. It is characterized by the following properties: the trait is not present in every generation; a child with a trait can be born to parents deprived of it, the trait manifests itself mainly in men and, as a rule, horizontally; a father devoid of the trait is not a carrier of the allele of this trait and does not transmit it to his daughters.

If a woman who is devoid of signs and a person with a sign marry, then all their children will be without a sign. Daughters will receive from their father an X chromosome with a gene for the trait (recessive) and will be heterozygous carriers, so they will receive the second X chromosome (with a dominant gene) from their mother.

In a man without a trait and a woman carrying the allele, the probability of having a boy with the trait is 50% of all children and 25% of all children.

The probability of giving birth to girls with a trait is very small, and this is possible only when the father has a trait, and to have a heterozygote carrier of the gene for traits. In this case, half of the girls will be with the trait, and the other half will carry the allele in a heterozygous state.

A classic example of the inheritance of traits according to the X-linked recessive type can be hemophilia, which causes increased bleeding due to a lack of blood coagulation factors in the body (Fig. 3.5).

Rice. 3.5. Genus with X-linked recessive inheritance (hemophilia)

3. In-linked inheritance or Dutch. It is peculiar only to the male sex. The human Y chromosome contains very few genes that are passed from father only to sons. Moreover, the sign is present in all generations and in all men. An example of hollandric inheritance can be the inheritance of hypertrichosis (the presence of hair along the edge of the auricles (Fig. 3.6).

Rice. 3.6. A genus with a Y-linked type of inheritance (hypertrichosis)

The genetic method can also be used to diagnose diseases with a hereditary predisposition, the inheritance of which is subject to Mendel's law.

Tracking them, you can learn a lot about yourself and adjust your own destiny. Even for those who still think little about their own origin, this information will be useful at least at the level of determining genetic predispositions to diseases.

But it is very difficult to collect and correctly draw up information about your relatives. In this article, we will talk about how to correctly draw up a genealogical (pedigree) family tree with diagrams, examples and templates.

What is a family tree

A pedigree tree is a conditional diagram describing family ties within the same family. It is often depicted as a real tree. Next to the roots, the ancestor or the last descendant is usually located, for which a diagram is drawn up, and on the branches there are various lines of the genus.

In ancient times, the preservation of knowledge about their origin was a direct necessity for everyone. Already in the Neolithic times, people knew that closely related marriages lead to unviable children. Therefore, men took wives for themselves in neighboring villages, clans and tribes. However, sometimes it was required to preserve some qualities within the line, and then people chose brides and grooms among a limited circle. But in both the first and second cases, knowledge of one's ancestors was mandatory.

Blood (consanguinity) in the past meant not only the presence of family ties, but also a kind of psycho-emotional community, and in relation to representatives of one family, the range of expectations from people was quite close.

This behavior is well founded. Have you noticed that there are families, representatives of different lines and generations of which themselves choose similar directions of development. There are families in which everyone is associated with art, and there are those where, for generations, every second has a penchant for engineering. And the point here is not only in education, but also in the peculiarities of the functioning of the organism. Genetic predisposition manifests itself not only in diseases, but also in the talents of representatives of the related line.

The birthing system was also supported by a social structure. Most societies go through the stages of the first caste, then the estate, then the class system. And marriages in them are usually arranged within their social circle.

Family history can shed light on many personal values. A lot is put into a person at a very early age by the example of the relationship between his parents and their relatives: behavior patterns, structure of thinking, habits and words. But inheritance is not always straightforward. The study of the history of the family and the reconstruction of the family tree contributes to the self-identification of the individual, allows him to realize his personal foundations. This is useful both for the person himself and for the family as a whole. The very process of collecting information and their registration will be useful for establishing contact between relatives.

There are several methods for compiling a family tree:

• Ascending. Here, the chain is built in the direction from the descendant to the ancestors. The initial element is the schema builder. The method is convenient for those who have just started studying their family. The compiler has information mainly about his closest relatives: parents, grandfathers, grandmothers, etc. - and gradually delves into the past.

• Downward. In this case, the chain has the opposite direction. The beginning is one ancestor (or spouse). For such a construction, you need to have sufficiently extensive information about your relatives.

When composing a family tree, it is necessary to take into account the lines of inheritance. They are of two types:

• Straight branch. The chain includes you, your parents, their parents, etc.

• Side branch. It takes into account your brothers and nephews, siblings, grandparents, great-grandparents, etc.

These schemes - ascending and descending with straight and lateral branches - can be composed as a mixed one: simultaneously for men and women of a kind, or to trace inheritance only by the kind of father or mother.

The generic tree can be designed as follows:

The branching relationship we are accustomed to, which is often complemented by a tree pattern. Suitable for the design of genealogical schemes of any degree of complexity.

• You draw your child's ascending family tree in this style.

• Make a wonderful gift for a distant relative by depicting a common ancestor on the diagram as an initial figure and from him building a descending system of connections of all cousins ​​and second cousins.

• Design your drawing in the form of an hourglass. This option is suitable for older relatives: grandfathers or great-grandfathers. Take them as key figures and draw up a family tree of these family members, combining the descending and ascending patterns of parents and descendants in the figure.

The butterfly scheme is inherently quite close to the clock variant. Her starting point is the spouses, on both sides of them are the ascending family trees of their parents, and below the descending one.

There is another option for building a structure. It is not common on the territory of Russia, but it allows you to create a fairly complete description of family ties. This is the so-called circular table. It is also capable of accommodating upward and downward genus descriptions.

• For simple schemes you can take as a basis a quarter of a circle - the "fan" pattern.

• There is a variant of the design of the ascending or descending structure in the form of concentrated circles, in which ancestors or descendants are inscribed.

• Alternatively, the circle can be divided and a family tree of the genus can be compiled, combining both directions of the family in a similar way to the "clock" pattern.

Any of the options described can be supplemented with photographs and notes.

How you can independently compile a genealogical family tree

It is better to start your research with the family archive. See if you still have old photographs and official documents of your older relatives. Documents will be especially useful: marriage or birth certificates, diplomas, certificates, work books, since it is with their help that it is easiest to start searching in the archive. All papers and photographs should be scanned, saved somewhere in a digital format and used in the future. And return the originals to their place, so as not to lose these important evidence.

Next an important milestone is a survey of relatives. And since relatives are not eternal, it is not worth delaying with him. In order not to overwork the elderly and not get confused yourself, it is important to outline the range of issues in advance. For example, when we compile a genealogical tree of a family, it is worthwhile to be interested in information:

• When and where were these or those relatives born.
• Where and when they worked.
• Time and place of study.
• Who and when did they marry.
• How many children they had, their names and dates of birth.
• If relatives have died, it is worth knowing when and where it happened.

As you can see, from the point of view of further searches, from the list the most important information- this is the place and time of certain events. Knowing them, you can go to the archives for documents.

But from the point of view of the family, it is much more important to hear stories about the lives of their relatives. Each family keeps its own traditions, something happened in each one worthy of the memory of generations. Therefore, do not neglect long conversations about the past.

When collecting oral information, it is worth using a voice recorder so as not to miss a single trifle.

It is important to structure all the information received correctly and quickly, otherwise you will simply get confused in the intricacies of your family ties. You can store the information on paper in folders belonging to each line of the family. Or create a separate folder on your computer where you will place files about each of your relatives.

Some people have been researching their ancestry for years, gradually deepening their knowledge of their kin in a direct and indirect way.

But you can make the initial stages of the process faster, invite your family to participate with you in this important matter. If several people in their own line make a list of close relatives with names, photos and dates, and then all this information is combined into a single scheme, you can get a family tree for several generations deep in just a few months. In addition, such a solution will help to establish communication between the individual branches of the family.

Services and programs to help build a family tree

Gathering information about relatives is difficult enough. Simply because with each generation, the number of people about whom you need to collect information will increase exponentially. Even with a bottom-up scheme with only straight branches, by the seventh generation, you would have 126 ancestors.

Registering and storing all this information using paper carriers inconvenient. Much easier to use electronic databases data. You can create the necessary files yourself in Excel or Access. Or you can use specialized programs that are initially configured so that it is as easy as possible to organize information in your family, display and display it in a beautiful and understandable form.

There are many pedigree internet services. They will correctly draw up your family tree, help you find information about relatives, and provide design samples.

• Some of them provide the ability to create a schema of your kind online. On them, after free registration, you need to enter information about each relative, indicate his family ties, provide photographs, and the service itself will graphically build the necessary structure.

• There are more professional sites with more customization options. They automatically carry out additional analysis of the surname and even look for information in the archives.

A convenient solution, but, unfortunately, such services exist for a relatively short time, usually about 5 years, after which you will most likely lose access to the entered information.

• For deeper work it is better to use special programs working independently of the internet. They are paid and free. The latter have more limited functionality.

• Or contact a special company dealing with genealogy, with its help to find information about your family ties, and beautifully arrange a family tree or

Compilation of a pedigree begins with collecting information about the family, and above all with collecting information about proband- an individual who is the subject of interest of a researcher (doctor, teacher). Most often it is a patient or a carrier of the studied trait. However, healthy individuals can also seek medical genetic counseling. In this case, the term "consulting" is used. In the graphic representation of the pedigree, the proband is marked with a corresponding sign and an arrow that goes from bottom to top and from left to right. Children of one parental couple (brothers and sisters) are called siblings. If siblings have only one common parent, they are called half siblings. Distinguish between single uterine (common mother) and half-blood (common father) siblings. A family in a narrow sense is a parental couple and their children (nuclear family), but sometimes a wider circle of blood relatives. In the latter case, it is better to use the term "genus".

Usually a pedigree is collected in connection with the study of one or more diseases (signs). A doctor or geneticist is always interested in a particular disease or symptom.

Depending on the purpose of the study, the pedigree can be complete or limited: it can reflect either clinical signs or the genetic status of the members of the pedigree. In any case, you need to strive for the most complete compilation of the pedigree in the ascending, descending and lateral directions. The more a generation is involved in a pedigree, the more information it can contain. However, its vastness can lead to the appearance of erroneous data in it. To clarify the information, various kinds of medical documentation, photographs of relatives, and the results of additional research are used. The greater the depth and breadth of the genealogical search, the more valuable and reliable the information received.

For clarity, the collected data is depicted in the form of certain symbols, some of which are shown in Fig. IX.1.

Rice. 1X.1. The most common symbols used in pedigrees are:

1 - a male person;2 - a female person;3 - sick;4 - marriage; 5 - consanguineous marriage;6 - siblings;7 - uterine siblings;8 - consanguineous siblings;9 - monozygotic twins;10 - dizygotic twins;11 - adoption;12 - gender unknown;13 - miscarriage;14 - medical abortion;15 - dead;16 - proband;17 - heterozygous individuals;18 - heterozygous carrier of a recessive gene on the X chromosome;19 - pregnancy;20 - barren marriage;21 - personally examined

By "clinical" pedigree is meant the display of the inheritance of a particular disease or several diseases. The maximum number of diseases (signs) in one symbol, i.e. in one individual, in a graphic representation should not exceed four nosological forms or signs. If the clinical pedigree is devoted to the analysis of only one specific disease, then the designations correspond to the image of a male patient and a female patient. If two diseases are traced in the clinical pedigree, for example, hypertension and obesity, then the following designations are usually used: each symbol is divided into two equal parts, while patients with the first disease (hypertension) are designated as obese patients as In this pedigree, the symbol would denote a male individual, suffering from hypertension and obesity at the same time.

In some cases, different types of shading of elements are used to represent different diseases in the pedigree (Fig. IX.2). The graphic representation of the pedigree is supplemented by the mandatory sections: "Symbols" and "Pedigree legend".

Conditional designations are a list of symbols used to graphically represent a pedigree. As a rule, standard symbols are used (Fig. IX.1). However, depending on the tasks, goals and characteristics of pedigrees, the compiler has the right to use the original (own) designations with their obligatory explanation in order to exclude the possibility of misinterpretation of the data. To clarify the principles of designating and compiling pedigrees, two examples are given (Fig. 1X.2 and 1X.Z).

Legend pedigree is a required element of the pedigree description. It includes:

1) a detailed description of each member of the pedigree, information about which is mandatory or essential for understanding the nature of the inheritance of the disease (trait) or the characteristics of the clinical manifestation;

2) a list of sources of medical and other information with meaningful information;

3) an indication of the nature of the pathological process or its localization (for example, some members of the pedigree are diagnosed with an isolated malignant tumor of the stomach, others have multiple neoplasias);

4) an indication of the time of the onset of the disease and the features of the course;

5) indication of age and cause of death;

6) a description of diagnostic and identification methods (for example, the qualitative or quantitative nature of the described (feature).

Thus, the "Legend of the pedigree" is information about the members of the pedigree with a detailed statement of any information that is necessarily essential for the analysis.

Generations are indicated by Roman numerals from top to bottom, usually placed to the left of the pedigree. The last generation of ancestors for which information was collected is designated as generation I. All elements of one generation (the whole row) are numbered from left to right, sequentially in Arabic numerals. Siblings are listed in the pedigree in order of birth. Thus, each member of the pedigree has its own coordinates, for example, in the pedigree shown in Fig. IX.2, maternal grandfather of the proband - II-3, has neurofibromatosis.

All individuals of one generation should be located strictly in one row. "Hanging" symbols between generations is a gross mistake. If the pedigree is extensive, then the generations can be arranged not in horizontal rows, but in concentric circles (Fig. IX.4). In the pedigree, it is important to mark those personally examined for the presence of a sign of illness or disease.

The researcher should strive to obtain objective primary material, which is the basis of statistical and genetic analysis.

GENETIC ANALYSIS OF PEDIGREE

The main purpose of studying genealogical data is to establish genetic patterns associated with the analyzed disease or trait.

To detect the hereditary nature of a trait (disease) and establish the type of inheritance, various methods of statistical processing of the data obtained are used.

The laws of inheritance discovered by Mendel obey only those hereditary diseases, the cause of which (etiological factor) is a mutation of one gene. Depending on the chromosomal localization and characteristics of the gene, they are distinguished:

autosomal dominant and autosomal recessive types of inheritance, when the gene is located in one of 22 pairs of autosomes (nonsex chromosomes);

X-linked dominant and recessive types of inheritance, when the gene is located on the X chromosome;

Y-siegothenic (Hollandric) inheritance, when the gene is located on the Y-chromosome;

mitochondrial (cytoplasmic) inheritance, when a mutation occurs in the mitochondrial genome.

It is important to understand that in some cases, calculations of the ratio of the number of sick and healthy in one particular family may give an incorrect idea of ​​the type of inheritance. This is mainly due to the random nature of the distribution of chromosomes during gametogenesis. In a particular family, the ratio of sick to healthy children may differ significantly from the theoretically expected ratio typical for a particular type of inheritance. However, the nature of the pedigree, the characteristics of the transmission of the disease (trait) in generations, compliance with the criteria for inheritance of one type or another, allow us to draw a certain conclusion about the type of inheritance of the pathology (trait) in a particular family.

Rice. 1. Pedigree of a family with Minkowski Shoffard anemia (autosomal dominant inheritance)

Rice. 2. Pedigree with an autosomal recessive mode of inheritance of the disease (adrenogenital syndrome)

Rice. 3. Pedigree of a family with Duchenne muscular dystrophy (X-linked recessive inheritance)

Rice. 4. Pedigree of patients with bronchial asthma.

GENETIC PROBLEMS.

Problem number 1

A girl whose father suffers from hemophilia marries a healthy man.

What kind of children can you expect from this marriage?

Create a pedigree.

Problem number 2

A boy, three days old, from a 27-year-old mother with diabetes. He was born at the time of the first pregnancy, with a body weight of 4700 g, a body length of 53 cm. The appearance of the child attracted attention: a swollen, moon-shaped face, a short thick neck. From the first hours of life, he developed respiratory distress syndrome. The borders of the heart are expanded to the left to the mid-axillary line. In the study, hypoglycemia was found in the blood.

Additional research needed.

Presumptive diagnosis.

Problem number 3

Child, 10 months old. Was born from the first pregnancy. Delivery on time with birth weight of 3300 g, body length - 52 cm. Pregnancy was uneventful. Shouted at once. Attached to the breast in the first 30 minutes of life, sucked willingly. I was gaining weight well. Artificially fed from one month with the "Tonus" mixture. Pale skin, blue eyes. By now, the head does not hold, does not sit, teeth are 2/2. Large fontanelle 1X1 cm. Does not hold toys, does not recognize parents. Body weight 8.5 kg, body length - 70 cm, head circumference - 45 cm. On examination, an unpleasant odor from the child is determined. The cousin of this child was sick in the pedigree.

Your Proposed Diagnosis.

The type of inheritance of this disease.

Problem number 4

Analyze the data on twins in the table in order to determine the role of heredity and environmental factors in the development of traits:

Note: MB - monozygous twins; DB are dizygotic twins.

Problem number 5

A child from 2 pregnancies, 2 urgent deliveries with a body weight of 3500 g, a body length of 52 cm, a head circumference of 36 cm. The first pregnancy ended in stillbirth. The mother is 23 years old, the father is 25 years old. Parents consider themselves healthy. From the first day of life, the child does not tolerate feeding well, spits up. Dyspeptic symptoms, bloating were noted. On the third day, an icteric coloration of the skin and sclera appeared, which after 5-6 days had no tendency to decrease. On the part of the lungs and heart, no pathology was revealed. Liver + 4cm, spleen + 2cm. At the age of one month, there was a lag in neuropsychic development (does not smile, does not keep the head in the prone position). The body weight gain in the first month was 350g. On examination by an ophthalmologist, a cataract was diagnosed. Laboratory examination: complete blood count (10 days) Er. - 5.2X10 12 / l; HB - 140 g / l; Ht 0.42; Lake. - 10.2X10 9 / l; p-2, s-24, l-72, m-2; ESR - 3 mm / h, blood sugar - 2.1 mmol / l; general urine analysis - relative density - 1002; protein - traces; leukocytes - 0-1 in the field of view.

Presumptive diagnosis.

Inheritance type.

Forecast for future siblings.