To date, more than 3,000 hereditary human diseases have been registered, most of them associated with mental disorders. According to the World Health Organization (WHO), thanks to the use of new diagnostic methods, an average of three new hereditary diseases are registered every year. The nature of hereditary diseases is very complex. There are several options for its classification from a genetic and clinical point of view.
Genetic diseases Phenylketonuria is a severe hereditary disease. The disease was described in 1934 by geneticist Felling. The disease is caused by a mutation in one gene that disrupts the normal cycle of conversion of phenylalanine to the amino acid tyrosine.
Phenylketonuria Normally, excess phenylalanine received from food and not used for protein synthesis is converted to tyrosine. In patients with phenylketonuria, this amino acid accumulates in the blood. Elevated phenylalanine levels are not dangerous in themselves, but they do stimulate unusual reactions that cause phenylalanine derivatives to accumulate in the body.
Phenylketonuria They cause damage to nerve tissue. The disease is accompanied by severe neurological symptoms (increased excitability), microcephaly (small head) and ultimately leads to idiocy. The diagnosis is made biochemically. Therefore, if the presence of this disease is detected in time and phenylalanine is excluded from food, the child will develop normally.
Morphan syndrome or spider finger disease. A dominant mutation of one gene has a strong pleiotropic effect. In addition to increased growth of the limbs (fingers), patients experience asthenia, heart disease, dislocation of the lens of the eye and other anomalies. The disease occurs against a background of increased intelligence, which is why it is called “the disease of great people.”
Achondroplasia (from the Greek a negative particle, chondros cartilage and plasis formation), or chondrodystrophy, is a congenital disease that begins in utero and is expressed in impaired growth of the limbs in length. A child is born with short arms and legs, which subsequently either lag significantly behind in growth or do not grow at all with normal growth of the body, neck and head. Achondroplasia is often combined with other developmental defects and mental retardation. The basis of the disease is a violation of the ossification process at the boundaries of the epiphyses and diaphysis of bones.
Albinism Albinism (from Latin albus white), lack of normal pigmentation: in people's skin, hair, iris. Albinism is a hereditary trait that depends on the presence of a recessive, i.e. suppressed, gene that blocks melanin synthesis in the homozygous state. Occurrence rate 1:20,000
Chromosomal diseases Cry of the cat syndrome 44 + XX, 44 + XY The disease is caused by the loss (deletion) of the long arm of chromosome 5. This mutation leads to abnormal development of the larynx, which causes the baby's characteristic cry, which resembles meowing due to underdevelopment of the larynx.
Chromosomal diseases The widely known Down disease (Down syndrome) is the result of the presence of an extra chromosome from the 21st pair in the karyotype (trisomy 21). The reason is the nondisjunction of sex chromosomes during the formation of germ cells in the mother. Occurrence frequency 1:500
Chromosomal diseases MONOSOMY Shereshevsky-Turner syndrome: the absence of one of the two X chromosomes in a woman’s karyotype. 44+XO Sick women are usually short, less than 140 cm, stocky, with poorly developed mammary glands, and have characteristic wing-like folds on the neck. As a rule, they are infertile due to underdevelopment of the reproductive system. Most often, pregnancy with this syndrome leads to spontaneous abortion. Only about 2% of sick women remain pregnant until the end. Occurrence frequency 1:5000
Chromosomal diseases POLYSOMY Men with Klinefelter syndrome (44 + XXY, 44 + XXXY, 44 + XYY, 44 + XXYY) are characterized by underdevelopment of the gonads, eunuch type, often mental retardation, high stature due to disproportionately long legs, etc. Frequency of manifestation 1:1000
Measures to prevent hereditary diseases The main way to prevent hereditary diseases in humans is their prevention. For this purpose, in many countries of the world there is a network of institutions providing medical and genetic counseling to the population. First of all, its services should be used by persons entering into marriage who have genetically disadvantaged relatives.
Measures for the prevention of hereditary diseases Genetic consultation is mandatory for the marriage of relatives, persons older than age, as well as those working in production with harmful working conditions. Doctors and geneticists will be able to determine the degree of risk of the birth of genetically inferior offspring and ensure monitoring of the child during its intrauterine development. If a sick child is born, drug, dietary and hormonal treatment is sometimes possible.
Makhaeva Diana
Presentation on biology 9th grade
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HERITABLE HUMAN DISEASES Hereditary Human Diseases
The presentation was made by: Student of class 9 B of KSOSH No. 2 named after. F.I. Anisichkina. Makhaeva Diana
Definition: Hereditary diseases are human diseases caused by damage (mutations) to the hereditary apparatus (genome) of the cell.
Classification Hereditary Diseases Chromosomal Polygenic Mitochondrial Gene Monogenic
Gene Diseases Gene diseases are a group of diseases caused by mutations at the gene level. The overall frequency of gene diseases in human populations is 2 - 4%. Currently, more than 5 thousand such hereditary diseases have been described.
Caused by mutations or absence of individual genes. They are inherited in full accordance with the laws of G. Mendel. The type of inheritance is autosomal or X-linked, dominant or recessive. Frequency of occurrence 1:10,000 -15,000. Monogenic Diseases
A hereditary connective tissue disease caused by a mutation in the gene encoding the structure of the fibrillin protein. Inherited in an autosomal dominant manner. Marfan syndrome Keeled chest Arachnodactyly
Famous people with Marfan syndrome S. de Gaulle A. Lincoln Akhenaten N. Paganini
A disease that affects the exocrine glands. The reason is a mutation (deletion of three nucleotides), leading to the absence of phenylalanine. Inherited in an autosomal recessive manner. Cystic fibrosis
A group of diseases, the development of which is based on disturbances in the number or structure of chromosomes that occur in the gametes of the parents or in the early stages of fragmentation of the zygote (fertilized egg). Chromosomal diseases
Causes of diseases associated with ploidy disorders caused by a violation of the number of chromosomes associated with changes in the structure of chromosomes. Chromosomal Diseases
Heart defects can occur alone or in combination with each other. Congenital heart disease can appear immediately after the birth of a child or occur hidden. Congenital heart defects occur with a frequency of 6-8 cases per thousand births, which is 30% of all developmental defects. They rank first in mortality of newborns and children of the first year of life. After the first year of life, mortality decreases sharply, and no more than 5% of children die between the ages of 1 and 15 years. Congenital heart disease The most common hereditary diseases.
Down syndrome is the presence of an extra chromosome in the body. It does not affect the child’s body and development in the best way. A person born with Down syndrome has another additional chromosome, the origin of which has not yet been solved by scientists. The occurrence of Down syndrome does not depend at all on the social, national or racial status of the parents. Such children, as a rule, have inhibited development: both physical and mental. Unadaptability to life and, in addition, a bouquet of additional diseases, including: heart disease, incurable diseases of the organs of hearing and vision. How can they survive in this harsh world? According to statistics, 92% of women terminated their pregnancy as soon as they found out that they would have a sick child, 94% abandoned their children in the maternity hospital. It turns out that only 6% of children with this syndrome can live fully, with the love and understanding of loved ones. Down syndrome
Angelman syndrome is a rare genetic disorder that causes developmental delays and neurological problems. Angelman syndrome is a classic example of hereditary imprinting, which is caused by deletion (loss of a portion of a chromosome) or inactivation of genes on the maternal 15th chromosome. Angelman syndrome
Sources A. Kamensky “Biology. Introduction to general biology and ecology. 9th grade http://www.likar.info/azbuka-zdorovya/article-63649-sindrom-angelmana/ http://panoramatest.ru/sindrom-dauna/ https://ru.wikipedia.org https://health .mail.ru/disease/vrojdennye_poroki_serdtca_vps/
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Lesson type: learning new material (lesson-lecture)
Lesson duration: 45 minutes
Technologies: computer, multimedia projector.
The purpose of the lesson: introduce students to diseases that are based on hereditary disorders; to develop knowledge about specific genetic diseases and their cytological basis; give an idea of possible ways to treat or prevent such diseases.
Equipment: multimedia presentation “Hereditary human diseases”.
DURING THE CLASSES
1. Organizational moment
2. Learning new material
Lesson plan:
- Hereditary diseases:
- Classification of hereditary diseases
- Monogenic diseases
- Chromosomal diseases
- Polygenic diseases
- Risk factors for hereditary diseases
- Prevention and treatment of hereditary diseases
1. Hereditary diseases
Hereditary diseases are associated with disorders in the genetic material (chromosomal and gene mutations that occur in parents or the organism itself), or certain combinations of genes in offspring. The consequences of inherited mutations, their phenotypic manifestation leads to certain symptoms of the disease. In disorders caused by a single gene, the allele causing the disorder may be dominant to the normal allele or recessive. Such diseases still cannot be cured, but the expression “hereditary means incurable” today no longer sounds like a fatal doom. The successes of modern medicine, of course, today cannot completely solve all the issues of treating this pathology in the problem of hereditary diseases. However, there is an opportunity to help the patient. In cases where a hereditary disease does not lead to a gross developmental defect, timely treatment can to some extent reduce the patient’s suffering and alleviate his fate. To make his social and labor adaptation possible.
Hereditary diseases are human diseases caused by chromosomal and gene mutations(Slide 3)
Congenital diseases that are caused by intrauterine damage caused, for example, by infection (syphilis or toxoplasmosis) or exposure to other damaging factors on the fetus during pregnancy should be distinguished from hereditary diseases. Many genetically determined diseases do not appear immediately after birth, but after some, sometimes very long, time.
2. Classification of hereditary diseases
Among hereditary diseases that develop as a result of mutations, three subgroups are traditionally distinguished: monogenic hereditary diseases, polygenic hereditary diseases and chromosomal ones (Slide 4).
3. Monogenic diseases
They are inherited in accordance with the laws of classical Mendelian genetics. Accordingly, for them, genealogical research allows us to identify one of three types of inheritance: autosomal dominant, autosomal recessive and sex-linked inheritance. This is the widest group of hereditary diseases. Currently, more than 4000 variants of monogenic hereditary diseases have been described. The vast majority of which are quite rare (for example, the frequency of sickle cell anemia is 1/6000).
(Slide 5)
- They are caused by mutations or the absence of individual genes and are inherited in full accordance with Mendel’s laws (autosomal or X-linked inheritance, dominant or recessive).
- Mutations can involve either one or both alleles.
- Clinical manifestations arise as a result of the absence of certain genetic information or the implementation of defective information.
- Although the prevalence of monogenic diseases is low, they do not disappear completely.
- Monogenic diseases are characterized by “silent” genes, the action of which is manifested under the influence of the environment.
3.1. Autosomal dominant diseases (Slide 6)
- It is based on a violation of the synthesis of structural proteins or proteins that perform specific functions (for example, hemoglobin)
- The effect of the mutant gene is almost always manifested
- The probability of developing the disease in the offspring is 50%.
Examples of diseases: (Slide 7) Marfan syndrome, Albright's disease, dysostosis, otosclerosis, paroxysmal myoplegia, thalassemia, etc.
Marfan syndrome
(Slides 7-8)
A hereditary disease of connective tissue, manifested by skeletal changes: tall stature with a relatively short body, long spider-like fingers (arachnodactyly), loose joints, often scoliosis, kyphosis, chest deformities, arched palate. Eye lesions are also common. Due to abnormalities of the cardiovascular system, the average life expectancy is reduced.
The high release of adrenaline characteristic of the disease contributes not only to the development of cardiovascular complications, but also to the emergence in some individuals of special fortitude and mental talent. The disease is familial in nature and has a dominant type of inheritance, i.e. in this case, one of the child’s parents has similar signs of the disease. Treatment options are unknown. It is believed that Paganini, Andersen, and Chukovsky had it. Abraham Lincoln had a similar pathology and was observed in his sons.
(Slides 9-10) Another type of connective tissue pathology is a disease characterized by short stature of patients, an ugly developmental pattern, often having grotesque forms. These changes are expressed on the face, torso, and skull. The patient's intelligence decreases, vision and hearing deteriorate. Quasimodo suffered from a similar form of the disease in V. Hugo’s novel “Notre Dame,” and the disease itself – gargoilism – comes from the French gargoille, which means freak. Notre Dame Cathedral in Paris is decorated with figurines of such freaks.
3.2. Autosomal recessive diseases (Slide 11)
- The mutant gene appears only in the homozygous state.
- Affected boys and girls are born with equal frequency.
- The probability of having a sick child is 25%.
- Parents of sick children may be phenotypically healthy, but are heterozygous carriers of the mutant gene
- The autosomal recessive type of inheritance is more typical for diseases in which the function of one or more enzymes is impaired - the so-called fermentopathies
Examples of diseases:(Slide 12) Phenylketonuria, microcephaly, ichthyosis (not sex-linked), progeria
Progeria(Slide 13)
Progeria (Greek progeros prematurely aged) is a pathological condition characterized by a complex of changes in the skin and internal organs caused by premature aging of the body. The main forms are childhood progeria (Hutchinson (Hudchinson)-Gilford syndrome) and adult progeria (Werner syndrome).
There is a good poem about this disease:
Progeria(Slide 14)
I started to get old, life is already short.
For many people it is like a river -
Rushing somewhere into the alluring distance,
Giving now joy, now sorrow, now sadness.
Mine is like a rock with a waterfall,
What falls from the sky like a hail of silver;
That drop to which a second is given,
Only to crash on the rocks at the bottom.
But there is no envy for the mighty river,
What flows smoothly along the path on the sand.
Their destiny is one, - having finished their wanderings,
Find peace in the seas of compassion.
May my life not be long, I am not afraid of fate,
After all, having turned into steam, I will return to the sky again.
Bychkov Alexander
Ichthyosis(Greek - fish) (Slide 15) - Hereditary dermatoses include diseases that are expressed in a change in the rate of exfoliation of the stratum corneum. Such a disease is ichthyosis. It is characterized by the appearance of increased dryness in preschool age,
peeling of the skin without inflammation. The localization of skin disorders varies and has varying degrees of severity.
3.3. Sex-linked diseases
- muscular dystrophy of the Duchenne type, hemophilia A and B, Lesch-Nyhan syndrome, Gunther's disease, Fabry disease (recessive inheritance linked to the X chromosome)
- phosphate diabetes (dominant inheritance linked to the X chromosome). The disease manifests itself in children at 1-2 years of age, but can begin at an older age. The main manifestations of the disease are growth retardation and severe progressive deformations of the skeleton, especially of the lower extremities, which is accompanied by a violation of the child’s gait (“duck gait”); significant pain in bones and muscles, often muscle hypotension; radiographically detectable rickets-like changes in bones, mainly in the lower extremities. (Slide 17)
4. Chromosomal diseases
They are caused by a gross violation of the hereditary apparatus - a change in the number and structure of chromosomes. A typical reason, in particular, is alcohol intoxication of parents at conception (“drunk children”). These include Down, Klinefelter, Shereshevsky-Turner, Edwards, and “cry of the cat” syndromes.
A. They arise due to changes in the number or structure of chromosomes.
b. Each disease has a typical karyotype and phenotype (for example, Down syndrome).
V. Chromosomal diseases are much more common than monogenic diseases (6-10 out of 1000 newborns).
Genomic mutations(Slide 19) Shereshevsky-Turner syndrome, Down's disease (trisomy 21), Klinefelter's syndrome (47,XXY), “cry of the cat” syndrome.
Down's disease(Slides 20-21) is a disease caused by an anomaly of the chromosome set (a change in the number or structure of autosomes), the main manifestations of which are mental retardation, the peculiar appearance of the patient and congenital malformations. One of the most common chromosomal diseases, occurs with an average frequency of 1 in 700 newborns. It is noted that the possibility of having children with Down syndrome depends on the age of the mother. So. On average, in women aged 19 to 35 years, the incidence of having a child with this disease is 1 in 1000, while in women after 35 years, this probability increases and by the age of 40-50 reaches a level of 2-3%. This dependence of the incidence of Down's disease on the age of the mother is explained by the fact that the process of formation and development of female germ cells begins at birth and continues throughout life. Under the influence of various harmful influences, damage to the chromosomes of these cells is possible. And with age, the likelihood of such disorders increases, and consequently, the risk of having a sick child increases sharply.
Other chromosomal diseases are also associated with an increase in the number of chromosomes or damage to their individual parts. In their external manifestation, they are characterized by multiple developmental deformities in the form of cleft lip, soft and hard palate, malformations of the eyes, ears, skull bones, limbs and internal organs.
Cleft lip and palate(Slide 22) account for 86.9% of all congenital malformations of the face.
5. Polygenic (multifactorial) diseases
Polygenic diseases are inherited in a complex manner. For them, the issue of inheritance cannot be resolved on the basis of Mendel's laws. Previously, such hereditary diseases were characterized as diseases with a hereditary predisposition. However, now they are discussed as multifactorial diseases with additive polygenic inheritance with a threshold effect.
- They are caused by the interaction of certain combinations of alleles of different loci and exogenous factors.
- Polygenic diseases are not inherited according to Mendelian laws.
- Special tables are used to assess genetic risk
These diseases include(Slide 24) – some malignant neoplasms, developmental defects, as well as a predisposition to coronary artery disease, diabetes mellitus and alcoholism, congenital hip dislocation, schizophrenia, congenital heart defects
6. Risk factors for hereditary diseases.
- Physical factors(various types of ionizing radiation, ultraviolet radiation)
- Chemical factors(insecticides, herbicides, drugs, alcohol, some medications and other substances)
- Biological factors(smallpox, chickenpox, mumps, influenza, measles, hepatitis viruses, etc.)
7. Prevention and treatment of hereditary diseases
Interest in the problem of hereditary diseases is growing as the number of hereditary pathologies among the population increases. Moreover, this growth is due not so much to the absolute increase in the number of hereditary diseases, but to the improvement in the diagnosis of previously unknown forms. It is becoming increasingly clear that knowledge of the causes and mechanisms of development of hereditary human diseases is the key to their prevention.
One of the ways to prevent hereditary diseases is to prevent the action of environmental factors that contribute to the manifestation of a pathological gene
Prevention:(Slide 26)
- Medical genetic counseling during pregnancy at the age of 35 years and older in the presence of hereditary diseases in the pedigree
- Exclusion of consanguineous marriages. However, some Indian tribes were described in which no hereditary diseases occurred in consanguineous marriages for 14 generations. It is known, for example, that Charles Darwin and Abraham Lincoln were born from consanguineous marriages. Darwin himself was married to his cousin, and the three sons born in this marriage were absolutely healthy and later became famous scientists. A.S. Pushkin was born from the marriage of S.L. Pushkin with his second cousin Nadezhda Hannibal.
Genetic consultation. The reasons for seeking genetic counseling can be very different. For example, parents can contact it if they are afraid of having a child with a genetically determined disease. Genetic studies can predict the likelihood of such diseases if, for example:
- The parents have a genetic disease in their family;
- The married couple already has a sick child;
- In a married couple, the wife repeatedly had miscarriages;
- Elderly couple;
- I have relatives with genetic diseases.
A prerequisite for effective consultation is, if possible, a detailed analysis of family pedigrees regarding hereditary diseases.
Heterozygosity test allows us to draw conclusions regarding genetically determined metabolic defects that appear in parents in an erased form, since heterozygous carriers of the trait synthesize regulatory substances in small quantities.
Prenatal (prenatal) diagnosis. In this diagnosis, several milliliters of amniotic fluid are taken from the amniotic sac. The fetal cells contained in the amniotic fluid allow us to draw conclusions about both metabolic disorders and chromosomal and gene mutations.
Treatment:(Slide 27)
- Diet therapy
- Replacement therapy
- Removal of toxic metabolic products
- Mediometori effect (on enzyme synthesis)
- Exclusion of certain medications (barbiturates, sulfonamides, etc.)
- Surgery
Today a new method is being actively developed - gene therapy. It can be used to heal a person with a genetically determined disease, or at least reduce the severity of the disease. With this method, defective genes can be replaced by “healthy” ones and the disease can be stopped by eliminating the cause (defective gene). However, targeted interference with human genetic information carries the risk of abuse through manipulation of germ cells, and is therefore actively disputed by many. Despite the fact that most research on genetic engineering is at the stage of laboratory testing, further development of this area allows us to hope for the practical use of the method to treat patients in the future.
Eugenics(from the Greek ευγενες - “good kind”, “thoroughbred”) - a form of social philosophy, the doctrine of a person’s hereditary health, as well as ways to improve his hereditary properties. Eugenics is also the name given to the social practice associated with this philosophy. In modern science, many problems of eugenics, especially the fight against hereditary diseases, are solved within the framework of human genetics. The ideas of eugenics were discredited because they were used to justify anti-humanistic theories (for example, fascist racial theory). Researchers use population genetics methods and study the frequency and dynamics of genetically determined defects and the genes responsible for these defects in human populations. The goals of eugenics are:
- research and consultations on issues of inheritance, that is, the transmission to descendants of genes that cause diseases, and, accordingly, their prevention;
- study of changes in human hereditary information under the influence of environmental factors manifested in genetic characteristics;
- preservation of the human gene pool.
Homework:§50
Description of the presentation by individual slides:
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Down's disease (one in 700 newborns) The diagnosis of this disease in a child must be made by a neonatologist in the first 5-7 days of the newborn's stay in the maternity hospital and confirmed by examining the child's karyotype. In Down syndrome, the karyotype is 47 chromosomes, the third chromosome is found on the 21st pair. Girls and boys suffer from this chromosomal pathology equally.
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Shereshevsky-Turner disease (disease frequency 1 in 3,000 girls) The first signs of pathology are most often noticeable at 10-12 years of age, when the girl is small in stature, low-set hair on the back of the head, at 13-14 years old there are no signs for menstruation. There is a slight mental retardation. The leading symptom in adult patients with Shereshevsky-Turner disease is infertility. The karyotype of such a patient is 45 chromosomes. One X chromosome is missing.
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Kleinfelter's disease (1: 18,000 healthy men, 1: 95 boys with mental retardation and one in 9 men with infertility) Diagnosis is most often made at 16-18 years of age. The patient has a high height (190 cm and above), often a slight mental retardation, long arms disproportionate to the height, covering the chest when circling it. When studying the karyotype, 47 chromosomes are observed - 47, XXY. In adult patients with Kleinfelter's disease, the leading symptom is infertility.
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The patient's parents are healthy people, but each of them is a carrier of a pathological gene and with a 25% risk they may have a sick child. More often such cases occur in related marriages. The essence of phenylketonuria is that the amino acid phenylalanine is not absorbed by the body and its toxic concentrations negatively affect the activity of the brain and a number of organs and systems. Retarded mental and motor development, epileptiform-like seizures, dyspeptic manifestations (disorders of the gastrointestinal tract) and dermatitis (skin lesions) are the main clinical manifestations of this disease. Phenylketonuria (The frequency of this pathology is 1:10,000 newborns)
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Cystic fibrosis (Disease frequency is 1:2500) Children under 1-1.5 years of age are recommended to be diagnosed to identify a severe hereditary disease. With this pathology, damage to the respiratory system and gastrointestinal tract is observed. The patient develops symptoms of chronic inflammation of the lungs and bronchi in combination with dyspeptic symptoms (diarrhea followed by constipation, nausea, etc.).
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Hemophilia (The incidence of hemophilia A is 1:10,000 men, and hemophilia B is 1:25,000-1:55,000) Mostly boys suffer from this pathology. The mothers of these sick children are carriers of the mutation. The bleeding disorder observed in hemophilia often leads to severe damage to the joints (hemorrhagic arthritis) and other damage to the body; any cuts cause prolonged bleeding, which can be fatal for a person.
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Duchenne muscular dystrophy (occurs in 3 per 10,000 boys) As with hemophilia, the mother is the carrier of the mutation. The skeletal-striated muscles, first of the legs, and over the years of all other parts of the body, are replaced by connective tissue that is incapable of contraction. The patient faces complete immobility and death, often in the second decade of life. To date, no effective therapy for Duchenne muscular dystrophy has been developed, although many laboratories around the world, including ours, are conducting research on the use of genetic engineering methods for this pathology.
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Hypolactasia Lactose intolerance is a disease characterized by intolerance to lactose, a milk sugar found in mother's and cow's milk. It manifests itself in the form of diarrhea and bloating. The disease can appear immediately after birth or during life.
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Neurofibromatosis (observed in approximately every 3,500 newborns) Characterized by the occurrence of a large number of tumors in the patient. An important sign of the disease is the presence of many light brown spots on the skin.
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Huntington's disease (Prevalence is approximately 10 people per 100 thousand) Characterized by the fact that in middle-aged people (35-40 years old) periodic muscle twitching or spasms appear and gradual degeneration of brain cells occurs. Loss of coordination of movements occurs, speech becomes slurred. Gradually, all functions requiring muscle control disappear from under him: the person begins to grimace, experiences problems with chewing and swallowing. Memory problems gradually appear, depression, panic, and emotional deficit may occur.
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Polycystic kidney disease (Incidence is approximately 1 in 1000-1250 newborns) Associated with the formation of many large cysts in both kidneys, which reduces the amount of normally functioning tissue. Benign cysts are round “sacs” containing watery fluid. The greatest risk here is increased blood pressure and the development of kidney failure. In patients with the corresponding gene disorder, by the age of 80, the incidence rate is 100%; at a younger age it is slightly lower.
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Risk group - have relatives who have suffered or are suffering from a hereditary disease; - age over 35 years; - there was exposure to radiation; - close relationship with the spouse (the closer the relationship, the higher the risk); - your spouse already has a child with a genetic disease; - infertility and multiple miscarriages; - live near industrial plants. Your blood is enough for the analysis!
