Mutation Mutation (Latin mutatio-change) - a change in genetic material that occurs suddenly or artificially in natural conditions. As a result, the signs. - презентация

1 Mutation

2 Mutation (Latin mutatio-change) - a change in genetic material that occurs suddenly or artificially in natural conditions. As a result, the signs and properties of the body are subject to hereditary variability

3 Most mutations are harmless; they are always born from a normal dominant genome (see dominant).Some mutations have significant consequences; for example, some mutations inherited from both parents cause anemia. Offspring is transmitted only through mutations that occur in offspring creators (offspring creators or thieves)

4 The term mutation was introduced into science in 1901 by the Dutch scientist H. De Fries ( ).

5 There are types of mutations associated with changes in the genetic apparatus: Genomic Chromosomal gender Female.

6 I would associate the mutation that occurred in Kazakhstan with the incident at the Semipalatinsk test site. as a result of the explosion of the atomic bomb, the liquid in it was sprayed on people. The liquid and gas were absorbed into the human body, and the children inside the young mothers mutated and were born sick. At the same time, adults suffered from it.

7 Klinefelter syndrome occurs in men and is characterized by the presence of an additional X sex chromosome. Its average frequency is 1: 500. The main characteristic of this syndrome can be attributed to the following: the height is very long, the shoulders are narrow, the buttocks are wide, the muscles are poorly developed, the type of asthenic or cock (shaped person). On the face and armpits, there are small, very rare hairs, and the pubic hairs are similar to those of females; their sperm ducts become fat (atrophy), spermatogenesis is disrupted and becomes infertile. Mentally retarded, very trusting, quickly changing mood, feverish. Dermatoglyph of people suffering from Klinefelter syndrome has been changed there are often arcs in the expression of the fingers of the hands, and the number of facets is reduced.

8 Bloom's syndrome is a type of progeroid syndrome and shows a number of signs characteristic of this group of diseases: short growth and an early developing rash on areas of the skin that come into contact with sunlight. The skin rash is erythemic, sclerodermic and large-scale. When the skin is affected in the nose and cheeks, the rash has a butterfly-like shape. The rash can also develop on other surfaces that come in contact with sunlight, such as the skin of the hands. Other clinical manifestations include: high voice; characteristic facial features such as a long, narrow face, micrognathia, and protruding nose and ears; hypo - and hyperpigmentation of the skin; scleroderma, which can occur both on the skin and in the eyes; moderate immunodeficiency associated with a lack of certain classes of immunoglobulins, which leads to an increased risk of pneumonia and ear infections; hypogonadism

9 Patau disease is a chromosomal disorder caused by the presence of an additional copy of chromosome 13 (trisomy of chromosome 13). Patau (holoprosencephaly microcephaly,) includes several disorders of the nervous system. The syndrome affects the structure of the eye (microphthalmia, cataracts), musculoskeletal system (polydactyly, cleft lip and palate, umbilical hernia), heart, genitourinary system and many other organs.

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