Presentation on the genetics of sex-linked diseases. Presentation for the lesson "Genetics of sex. Sex-linked inheritance". presentation for a lesson in biology on the topic. Sex-linked signs
"Celiac disease" - Correction of fat (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 about p u l a l c and 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 the 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.
- 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 is heterogametic (XY).
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 designated as ZZ and females as WZ.
Orthoptera (grasshoppers) 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 intracutaneous 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, one of the types 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 hyperthyroidism 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 position of the limbs Stereotypical movements Increased tendon reflexes Convulsions Skin changes Dry 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 wrist 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?
It has 23 pairs of chromosomes, of which 22 pairs are autosomal, and the 23rd is sexual. In women, the 23rd pair is XX, in men - XY The Y-chromosome plays a decisive role in determining sex. -chromosome from father Can carry both X -chromosomes and Y -chromosomes X XY
SEX-LINKED CHARACTERS Sex-linked inheritance is the transfer of genes located on the sex chromosomes and the inheritance of traits controlled by these genes. chromosome
H hereditary sex-linked diseases Genetic diseases and abnormalities Chromosomal diseases Depend on the sex chromosomes of parental organisms. Disorders of genetic processes Do not depend on parents, occur when there are violations in the discrepancy of chromosomes
Smirnova Z.M.
Genetics of gender
- Chromosomal complex of a woman 44 autosomes + XX heterochromosomes.
- For a man - 44A + XY = 46.
- Sex is determined at the time of fertilization and depends on the combination of sex chromosomes in the gamete. Since gametes with X- and Y-chromosomes are formed in men in the process of meiosis in equal numbers, the sex ratio is 1: 1
- Sex, individuals of which have the same sex chromosomes and form 1 type of gametes, is called homogametic, heterogametic is called a sex, individuals of which have different sex chromosomes and form 2 types of gametes
P XX x XY
G X X Y
F1 XX XY
Homogametic floor Heterogametic floor
Sex chromosomes determine the development of primary and secondary sex characteristics
Primary sexual characteristics - sex glands and organs, are directly involved in the processes of reproduction (gametogenesis, insemination, fertilization).
Secondary sexual characteristics are not directly involved in reproduction. Developed under the influence of sex hormones
(in a person at the age of 11-15). These are the features of the skeleton, subcutaneous fatty tissue, hairline, timbre of voice, behavior.
Gender-linked inheritance
- Sex chromosomes have homologous regions (inheritance
genes in them do not differ from autosomal).
- But in the X-chromosome and Y-chromosome there are also non-homologous regions.
Traits linked to the X chromosome - due to genes located in a non-homologous region of the X chromosome
(color blindness, hemophilia, etc.).
Hollandric signs - due to genes located in the non-homologous part of the Y-chromosome (ichthyosis, hairiness of the middle phalanges of the fingers, etc.).
A region that does not have a homologue in the Y chromosome
A site that does not have a homologue in the X chromosome
Homologous regions of sex chromosomes
Gender-linked inheritance
- Sex chromosomes, in addition to genes that determine sex, contain genes
not related to gender. The signs determined by them are called signs linked to the floor.
- If the gene is linked to the X chromosome and is recessive, X h (hemophilia, color blindness), then in women it can manifest itself only in
homozygous (X h X h ).
- In men, there is no second X chromosome, and there is no homologous in the Y chromosome site of the X chromosome, therefore, in men, these genes are always manifested and are dominant for them (X h Y).
- The phenomenon when a gene (hemophilia, color blindness in men) is present in an individual not in
the form of a pair of alleles, and in the singular is called hemizygous condition.
- Men are hemizygous for genes located in
X chromosome. Therefore, recessive hereditary diseases, caused by genes such as hemophilia, color blindness, more often are found in men.
Gender-linked inheritance
- If the gene is on the X chromosome (gene for hemophilia, color blindness, etc.).
It can only be passed on from father to daughters.
- From mother is equally distributed between daughters and sons.
X H X h
x X H Y
X H
X H
X h
F 1
X h Y
X H Y
X H X H ;
X h X H ;
X h Y
X H X h
X H Y;
X H X H
X- linked recessive gene
Dominant gene (norm)
Dominant gene (norm)
Sick
Healthy
Carriers
X h X H ;
X h X H ;
X H Y;
X H Y ;
X h X H ;
X h Y
X H Y;
X H X H
Hemophilia
X H X h
X H X h x X H Y
X H
X h
X H
X H X H ; X H Y; X h X H ; X h Y
Sex-linked signs
Normal color perception
color blindness
X d X d
color blindness
X D Y - norm
X d Y
X D X d
or the norm
X D X D
Signs linked to the floor
If the gene is linked to the Y chromosome (hairy ears, web between fingers), then it can be passed from father only to sons since the sperm with the Y chromosome, fertilizing the egg with the X sex chromosome, determines the development of the male embryo.
XX x XY Z
Y Z
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Slide captions:
“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 Ghent 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 XX 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
