Presentation of sex-linked hereditary diseases. Presentation on the topic of hereditary diseases. Inhibit the development of nerve cells
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“We all stand on the shoulders of our ancestors” Genetics of gender. Gender-linked inheritance
An introduction to gender genetics or what I don't know yet, but should know
Lesson motto: I need to figure it out myself, but to figure it out myself, I need to think together B. Vasiliev
What is gender? Sex is a combination of genetic, morphological and physiological characteristics that ensure sexual reproduction of an organism.
The concept of sex in a person is a complex of physiological, behavioral and social characteristics that define an individual as a man (boy) or woman (girl).
Gregor Mendel (1822-1884)
American embryologist, geneticist. Nobel laureate, 1933. Conducted research on a fruit fly - Drosophila. Thomas Gent Morgan (1866-1945)
Karyotype (Greek karyon - nucleus) - chromosome set of a somatic cell (number, size and shape of chromosomes)
Drosophila or fruit fly karyotype
Human karyotype
Chromosomal sex determination sex autosomes Homogametic sex Heterogametic sex
Find the correspondences: Karyotype Sex chromosomes Autosomes Heterogametic sex Homogametic sex A pair of different chromosomes that are not the same in males and females 2. Sex forming the same gametes 3. Total number, size and shape of chromosomes Sex forming different gametes 5. Identical appearance of chromosomes in cells dioecious organisms
Who determines the sex of the future offspring - individuals of the homogametic or heterogametic sex? XY Y XY XX X XX X X P F 1 Gametes
Determination of sex in humans
Types of genetic sex determination Groups of organisms ♀ ♂ Mammals (including humans), most fish, some orders of insects (flies), most plants XX XY Birds, reptiles, butterflies XX XX Some orders of insects (moth) XO XX Some orders of insects (grasshoppers ) XX XO
The sex of a person is determined at the time of his fertilization
If two X-chromosomes fall into the zygote, then a girl turns out.The boy will work if an X-chromosome comes from a mother, and a Y-chromosome XX XY from a dad
In the first months of development, the embryos are bisexual. At the seventh week of development, if there is a Y-chromosome in the genotype, then male hormones begin to be produced and the body develops along the male path. In this case, the embryonic female organs disappear. 6 weeks 8 weeks
Influence of hormones on sex determination.
Androgens - a set of male hormones Estrogens - a set of female hormones X-chromosome Y-chromosome Androgen receptors androgens XY (boy) XY XX (Morris syndrome)
Joan of Arc
Gender scandals in sports
Mechanisms of sex determination Combination of sex chromosomes Influence of sex hormones Socialization in society
Inheritance is a type of inheritance, in which all genes with the sex of the studied traits are linked to the sex chromosomes X X X Y X Y
Sex chromosomes
Manifestation of a trait in a phenotype
Genotype Trait X A X a X A Y X A X a X a X a X a Y X A X A Manifestation of a trait in the phenotype
Manifestation of a trait in the phenotype Genotype Trait X A X a X A Y + + X A X a + - X a X a - + X a Y + + X A X A + -
Inheritance linked to the Y chromosome Father son XY X Y
Hypertrichosis of the auricle
Color blindness. Hemophilia.
X-linked diseases
Inheritance linked to the X chromosome "Daddy's daughter, mommy's sonny"
Variants of hemophilia gene inheritance: Genotype Phenotype X H X H Healthy woman X H X h Healthy woman (carrier) X H Y Healthy man X h Y Male - hemophilic X h X h The hemophilia gene in a homozygous state is lethal.
The tragedy of the Romanov dynasty
Hemophilia inheritance pattern X Y X O X X X X o X X Y o X Y P A healthy man A woman is a carrier of the hemophilia F 1 gene A healthy woman A woman is a carrier of the hemophilia gene A healthy man A man with hemophilia
Solve the problem The daughter of a color blind person marries the son of another color blind person, and the bride and groom distinguish colors normally. What will be the vision in children? It is known that the gene for color blindness is transmitted as a recessive trait linked to the X chromosome.
Color blindness Legend: X D - normal vision X d - color blindness
Think a little: Who am I - a cat ?! Or maybe a cat? To solve the task
Coloring of cats linked to the X chromosome X B X B - black cat X B Y - black cat X in X c - red cat X in Y - red cat -
Tortoiseshell cats (X B X c)
Determine the sex of the kittens R: ♀ X ♂ F 1:
Investigation XX GENETICS OF THE FLOOR Investigation:
son father X Y XY mother Daughter Investigation X X Homogametic sex X Y Heterogametic sex Genetics of sex Sex chromosomes X Y Autosomes Investigation: Mendel's laws Carrier ♂ ♀
Homework - § 30 (27), - questions 2-4, p. 111;
Determinants of health
- Genetics of sex. Gender-linked inheritance.
- Genetics of sex. Gender-linked inheritance.
- Genetics of sex. Gender-linked inheritance.
- Genetics of sex. Gender-linked inheritance.
"We all stand on the shoulders of our ancestors"
Biology teacher MBOU "Levkovskaya secondary school №7
Chernakova Nina Evgenievna
… all happy families are alike, and every unhappy family is unhappy in its own way
L.N. Tolstoy
- Human chromosome set map
The human karyotype contains 22 pairs of chromosomes that are the same in the male and female body, and one pair of chromosomes, according to which both sexes are distinguished. Chromosomes that are the same in both sexes are called autosomes. The chromosomes by which the male and female sex differ from each other are sex or heterochromosomes. The sex chromosomes in women are the same, they are called X-chromosomes. Men have an X chromosome and one Y chromosome.
Customer:
Sex ratio
In humans, most vertebrates, many
insects and dioecious plants, the female sex is homogametic (XX), and the male sex (XY) is heterogametic.
In birds, butterflies, reptiles, tailed amphibians, the male sex (XX) is homogametic, and the female sex (XY) is heterogametic. The sex chromosomes in these species are sometimes denoted by the letters W and Z, with males being denoted by ZZ and females by WZ.
Orthoptera (grasshoppers) have homogametic
is female (XX), and male (XO) is monogametic.
Haploidy is widespread in bees and ants. These organisms do not have sex chromosomes: females are diploid and males are haploid.
In some animals, sex determination depends on external conditions. For example, in the sea worm bonelia, individuals that remain free swimming in the larval stage become females, and the larvae that attach to the body of an adult female turn into males as a result of the musculinizing action of a hormone secreted by the female.
Traits inherited with sex chromosomes X and U, got the name sex-linked
Inheritance of diseases linked to X- chromosome
* classic hemophilia
* lack of sex glands
* color blindness (color blindness)
* hypoplasia (darkening of the teeth)
*hydrocephalus
- Inheritance linked to y - chromosome
* hypertrichosis
* webbing
- Detailed map of the human X chromosome
More than 370 diseases associated with
X chromosome.
Since males have one X chromosome, all genes localized in it, even recessive ones, immediately manifest themselves in the phenotype .
- Clinical signs:
- sub- and intradermal bleeding, hemorrhages in large joints, subcutaneous and intermuscular hematomas, hematuria, severe bleeding during trauma. Reason: deficiency of antihemophilic globulin.
- Inheritance type: X- recessive
- Population frequency- 1: 2500 (boys)
Inheritance of hemophilia
NS NS
NS Y
Carrier woman
Healthy man
NS Y
NS Y
NS NS
Healthy daughter
Carrier daughter
Healthy son
Sick son
Pedigree of the descendants of Queen Victoria of England. It is believed that the hemophilia gene arose as a result of a mutation in Queen Victoria herself or in one of her parents .
Hemophilia inheritance pattern
Mother is a carrier of the hemophilia gene ( XHXh ), father is healthy (KhNU).
Females heterozygous for any of the sex-linked traits are phenotypically normal, but half of their gametes carry a recessive gene. Although the father has a normal gene, the sons of carrier mothers have a 50% chance of having hemophilia.
- In the minds of people, any mention of hemophilia is primarily associated with the image of Tsarevich Alexei - the son of the last Russian emperor Nicholas II.
- Alexei was sick with hemophilia, having received it from his mother, Empress Alexandra Feodorovna, who inherited the disease from her mother Princess Alice, who in turn received it from her mother, Queen Victoria
Hemophilia.
a hereditary disease characterized by a lifelong violation of the blood coagulation mechanism. In 80% of cases, this is due to the absence or insufficiency of antihemophilic globulin in the blood plasma. As a result, blood clotting time is lengthened and patients suffer from severe bleeding even after minimal trauma.
The inheritance of hemophilia in the family of Tsar Nikolai Alexandrovich
Nicholas II
Alexandra
Anastasia
- Sex-linked inheritance
- Sex-linked inheritance
- Sex-linked inheritance
- Sex-linked inheritance
Color blindness, partial color blindness, a type of color vision impairment. This disease was first described in 1794. Color blindness occurs in 8% of men and 0.5% of women.
With the loss of one of these elements, partial color blindness occurs - dichromasia.
With the help of these tables, it is possible to disturb color perception. In table number 1, people with normal vision see the number 16.
People with acquired visual impairment have difficulty or do not distinguish at all the number 96 in Table 2.
- In humans, the gene for color blindness is recessive and is located on the X chromosome. When can a color-blind man have a color-blind son?
Solution
M. dalblind
D. dalblind
- Clinical signs: an increase in the volume of the head, expansion of the ventricles of the brain; thinning and divergence of the bones of the skull, imbalance of the cerebral and facial parts of the skull, strabismus, mental retardation and developmental delay, disorders of movement and coordination, nystagmus, atrophy of the white matter of the brain.
- Inheritance type: X is recessive.
- Population frequency – 1: 2000
PEDIGREE WITH X-CLUTCH TYPE OF INHERITANCE
- 1. Only maternal boys are ill.
- 2. The parents of the proband are healthy.
- 3. A sick man does not transmit the disease, but all his daughters are carriers.
- In a marriage of a female carrier with a sick man, 50% of daughters and 50% of sons are sick.
Traits linked to the y-chromosome
at -chromosome is called genetically inert or genetically empty, since there are very few genes in it.
In humans, a number of genes are located on the Y chromosome that regulate spermatogenesis, the manifestation of histocompatibility antigens that affect the size of teeth, etc.
Known anomalies linked to Y -chromosome, which from the father are passed on to all sons (scaly skin, webbed fingers, strong hair on the ears).
- Clinical signs: excessive hair growth on all parts of the body except the palms and soles. Since the Middle Ages, only 50 cases of congenital hyperthyrhosis have been reported. There are no other deviations in development. Local hypertrichosis can be observed with metabolic disorders.
- Inheritance type: AD. Population frequency unknown.
- Hypertrichosis is inherited as a trait linked to the y-chromosome.
What is the probability of having children with this anomaly in a family where the father has hypertrichosis?
Functional disorders
Action
gametes
alcohol
Slower growth of the embryo
nicotine
mutations
Inhibit the development of nerve cells
Narcotic substances
radiation
x-ray
radioactive
ultraviolet
Sun, ultrasound, fluorography, X-ray examination, computer, cell phone, household appliances (microwave, TV)
cell
mutation
Damaged DNA
- Phenylketonuria(PKU) is a congenital disease caused by a violation of the transition of phenylalanine to tyrosine and leading to mental retardation.
- Clinical picture Neurological and mental disorders Mental retardation Increased excitability in childhood Specific gait Specific posture and sitting posture Unusual limb position Stereotypical movements Increased tendon reflexes Convulsions Skin changes Dryness Eczema Vomiting in the neonatal period Specific mouse body odor.
- 47 chromosomes - extra X chromosome - XX Y
- Observed in young men
- High growth
- Impaired body proportions (long limbs, narrow chest)
- Developmental retardation
- Infertility
- Shereshevsky-Turner syndrome (45; X0) is observed in women. It manifests itself in slowing down puberty, underdevelopment of the gonads, infertility.
- Women with Shereshevsky-Turner syndrome are short, the body is disproportionate - the upper body is more developed, the shoulders are wide, the pelvis is narrow - the lower limbs are shortened, the neck is short with folds, the "Mongoloid" eye cut and a number of other signs.
- Down syndrome occurs when the baby's cells have not 46, but 47 chromosomes. Such children are mentally retarded, 50% have heart defects, a weak immune system. In a newborn, the disease can be diagnosed on the basis of the characteristic appearance of the child: the skull is rounded, the nape is "oblique", oblique eye section, wide bridge of the nose, accessory eyelid, light spots gray on the iris, "Gothic" palate, small ears. The mouth is usually half-open; the tongue is thick, often protrudes from the mouth, covered with transverse grooves; the hand is wide, the fingers and toes are shortened, the little finger is often curved; sometimes fingers are fused (partial or complete syndactyly). A complete transverse fold (monkey fold) is often found on the palm.
- Remember! The health of your future children is in your hands!
- Remember!
- The health of your future children is in your hands!
You have a choice:
stay healthy and live without problems or ...
- You have a choice: stay healthy and live without problems or ...
Remember that the health of your future children depends on your health.
- In humans, pseudohypertrophic muscular dystrophy ends in death at 10–20 years. In some families, the disease is dependent on a recessive sex-linked gene. The disease is registered only in boys. If sick boys die before childbirth, then why does this disease not disappear from the population?
Examples of diseases
1) Phenylketonuria 2) Marfan syndrome 3) Ichthyosis (not sex-linked) 4) Progeria 5) Arachnodactyly
Phenylketonuria
Phenylketonuria is a disease of amino acid metabolism. Described in 1934 by A. Fehling. The pathology is associated with a deficiency of the baked enzyme, phenylalanine hydroxlase, which disrupts the conversion of phenylalanine to tyrosine. Signs: increased excitability and muscle tone, tremors, mental retardation.
Marfan syndrome
Hereditary connective tissue disease, manifested by changes in the skeleton: high growth with a relatively short torso, long spider-like fingers, joint laxity, often scoliosis, kyphosis, chest deformities, arched palate. Eye lesions are also characteristic.
Ichthyosis
Ichthyosis is a hereditary dermatosis characterized by a diffuse violation of keratinization by the type of hyperkeratosis, manifested by the formation of fish-like scales on the skin.
Progeria
Progeria is a very rare genetic defect. At the same time, the appearance of changes in internal organs and skin is noted. The reason for this is the aging of the body, which occurs prematurely. The classification includes progeria for children and adults. There are no more than eighty cases of this disease in the world.
This rare disease manifests itself in rapid aging, which begins in childhood.
Arachnodactyly
The high adrenaline rush characteristic of the disease
contributes not only to the development of cardiovascular complications, but also to the appearance in some individuals of special fortitude and mental talent.
"Celiac disease" - Correction of fat (an increase in the proportion of medium-chain triglycerides), and carbohydrate metabolism by diet therapy. IV. ADDITIONAL: definition of HLA class II, provocation with gluten. Secondary biliary insufficiency. According to indications: the use of drugs that inhibit motility (loperamide) and mucocytoprotectors (smecta).
"Cornelia De Lange Syndrome" - Laboratory data. Rubinstein-Teibi. The marriage is not related. Study of the karyotype. Completed by: wedge coordinator of the 2nd year of study Kuranova N.G. Ectodermal and bony manifestations. Nails are flattened in the form of "cups". Most often, the lag in intellectual development corresponds to mental retardation in the degree of imbecility.
Chromosomal Disorders - Syndromes Associated with Numerical Autosome Abnormalities: Used accurate quantitative methods to analyze data. Chromosomal diseases. The frequency of occurrence is 1: 500-800. Monogenic. Autosomal recessive inheritance. "Vitamins" Prepared by: Baytuyakova Asel 219 gr., OMF. Sidndrom Marfana.
“Genetics and Hereditary Human Diseases” - What type of scheme would you choose? Performed by an artist with normal color vision. Closely related marriages. P. 183-184 textbook. Dominant? Features of a person as an object of genetic research. P o p u l a l c i about n s. Bliznetsovy. Population method.
Down's Disease - Early start of corrective work. Difficulty in consistent eye movement and fixation of the gaze on an object. Approximately 50% of children have varying degrees of myopia and 20% have hyperopia. The problem of the development and education of children with Down syndrome began teaching in 70-80 of the 20th century. Continuous structured assignments contribute to improved learning.
"Hereditary syndromes and diseases" - Eye lesions are also characteristic. Polygenic. http://images.yandex.ru/yandpage?&q=1900511643&p=0&ag=ih&text=%E8%F5%F2%E8%EE%E7%20%ED%E5%20%F1%F6%E5%EF%EB % E5% ED% ED% FB% E9% 20% F1% 20% EF% EE% EB% EE% EC & rpt = simage. Autosomal recessive diseases. Sex-linked diseases. But there is no envy of the mighty river That flows smoothly along the path in the sand.
Concepts: Hereditary diseases - diseases
human, caused by chromosomal and
gene mutations.
Gender-linked inheritance -
inheritance of a gene located on the sex chromosomes. On
following signs that appear only in wasps
of the same sex, but not determined by genes, is
on the sex chromosomes is called sex-limited inheritance.
chromosome, is called the inheritance of genes in the case
e, when the male is heterogametic and is characterized by
are the presence of a Y chromosome (XY), and females are homogametes
and have two X chromosomes (XX). This type of inheritance is possessed by
all mammals (including humans) live,
Most of insects and reptiles. Sex-linked inheritance of disease
associated mainly with the genital chromosome.
Most hereditary diseases (those or
other pathological signs) associated with
sex, are transmitted recessively. Of such diseases
there are about 100.
Woman carrier of pathological
trait itself does not suffer, since a healthy chromosome dominates and suppresses the X chromosome with
pathological sign, i.e. compensates
inferiority of this chromosome. Wherein
the disease manifests itself only in males.
According to the recessive type linked to the X chromosome, the following are transmitted: color blindness (red-green blindness), atrophy of the optic nerves,
Curly hair syndromeColor blindness
By the dominant type linked to the X chromosomehypophosphatemic rickets (not amenable to
treatment with vitamins D2 and D3), brown tooth enamel and
other. These diseases develop in individuals and men, and
female.
Diseases with a hereditary predisposition arise
in persons who have a slight inferiority of one or
other hereditary structure, which in conditions
normal life is not clinically manifested
(because it is able to compensate).
However, under the influence of various unfavorable
external influences (certain significant
loads) this hereditary inferiority is realized
in the form of a certain break in metabolic processes,
structure and function that can lead to the development
the corresponding disease.
Rickets
General classification of hereditary diseases
Hereditary diseasesPolygenic
Autosomal dominant
Autosomal recessive
Locked to the floor
Chromosomal
genomic mutations
chromosomal mutations
Polygenic Significant role in hereditary
predispositions are usually played by altered
constitution and reactivity of the body, and
various negative influences of the external environment and
dr.
These diseases represent a fairly extensive
group (according to WHO, make up more than 90%)
hereditary pathology, differing
the variety of their manifestations.
Diseases with a hereditary predisposition
can be monogenic, but more often polygenic (i.e.
e. caused by mutation, respectively, one, or
many genes) and caused by various pathogenic for
body factors (dirty air, water, food;
intolerance to milk, dairy products,
medicines, etc.). It is no coincidence that these diseases are called
multifactorial. For example, often found in
different countries of the world intolerance to various
people of milk, dairy products and dairy
food, which is usually due to an autosomal recessive sign of galactose intolerance
due to the absence or inhibition of beta-galactosidase in
intestines of homozygous organisms.
To diseases with a hereditary predisposition
include diabetes mellitus, peptic ulcer
stomach and duodenum, arterial
hypertension, atherosclerosis, gout, tuberculosis,
bronchial asthma, schizophrenia, psoriasis,
collagenosis and other forms of pathology.
