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Lesson №. 2

1. Theme: Chromosomal mutations. Gene (pointing) mutations

2. Purpose: to create at students of knowledge of the reasons of emergence and mechanisms of formation of chromosomal and gene mutations, their role in development of chromosomal and gene diseases.

3. Problems of training:

- to study the reasons of emergence of chromosomal and gene mutations;

- to study types of chromosomal and gene mutations;

- to study mechanisms of development of chromosomal and gene mutations;

- to study a role of chromosomal and gene mutations in emergence of chromosomal and gene diseases.

4. Main questions of a subject:

4.1. Chromosomal mutations, reasons, classification.

4.2. Chromosomal mutations, emergence mechanisms.

4.3. Gene mutations, reasons, classification.

4.4. Mutations as an error of replication, mechanisms and developments.

4.5. Mutations as shift of a frame of reading, development mechanisms.

4.6. Mechanisms of development of hereditary diseases at different types of hereditary diseases.

5. Training methods: the combined method of training (conversation, filling of tables, a sketch of schemes, the solution of situational tasks)

6. Literature:

The main:

6.1. Zhimulev I.B. General and molecular genetics. Novosibirsk, 2006, page 51-77, page 224-233.

6.2. Genetics. Under the editorship of Ivanov V. I. M, 2006. page 164-173, 219-267.

6.3. Medical biology and genetics under the editorship of prof. Kuandykov E.U. Almaty, 2004, page 116- 129.

6.4. Muminov T.A., Kuandykov E.U. Bases of molecular biology (course of lectures). Almaty,2007, page 143-169.

6.5. Mushkambarov N. N., Kuznetsov S. L. Molecular biology. M, 2003, page 78-82.

The additional:

6.1. Ayala F., Kayger Dzh. Modern genetics. M, 1988, page 8-67.

7.1.3. Fill the scheme: Types of a mutation

7.1.4. Define mutation types:

7.1.5. To represent types chromosomal mutations and to explain mechanisms of their emergence:

7.1.6. Fill the table: Classification of gene mutations by consequences:

7.1.7. Tasks: No. 1. The composition of hemoglobin of the person includes two  - chains (the -chain is coded in the 16th chromosome) and two -chains (the -chain is coded in the 11th chromosome). The structure of a -chain includes 146 aminoacids remains, thus in a normal -chain the sixth aminoacsids rest is glutamin acid. With participation of a normal -chain normal hemoglobin – HbA is formed. In a transcribed thread of a site of DNA coding a -chain, glutamine acid is coded by a triplet ________. If as a result of a mutation in DNA there will be a replacement of a triplet of GAA by GTA triplet, on a place of glutamin acid in a hemoglobin molecule according to a genetic code will appear _________. As a result instead of HbA hemoglobin there will be a new hemoglobin – replacement only one nucleotide and one amino acid leads HbS. Replacement only one nucleotide and one amino acid leads to development of a serious illness – ______________________. It ________________ mutation.

7.1.8. To represent types of gene mutations and to explain mechanisms of their emergence.

7.1.9. To represent and characterize types of mutations depending on level of violation of a genetic material of a cage (genomic, chromosomal, gene).

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