6.2. қ: қ, қ ң ә ң ұқ қ ң ғ қ, қ ң ө қ.
6.3. қ :
- қ ң қ ү;
- қ ң қ ү;
- қ ң қ ү;
- ққ ң қ ү;
- қ, қ ң ұқ қ ң ғ ө қ ү.
6.4. қң ұқ:
6.4.1. қ , .
қ ң . . Classification of genomic mutations.
6.4.3. қ , .
6.4.4. қ ң .
6.4.5. қ, қ ң ң ұқ қ ң ғ ө.
* ғ ә ү
6.5. қң ә: ү қ ә( ұқ әң, , , ө).
6.6. Ә:
:
6.6.1. . . .. .: , 2006. . 164-173, 219-267.
6.6.2. Ққ .Ө., ұ Ұ.Ә. ә қ (ә ғ). : , 2009. . 82-98.
6.6.3. .., .. . .,2003. . 78-82.
6.6.4. .. ә қ ң қ . , 2006. .141-153.
6.6.5. Қ .Қ., .., ұ Қ.. қ . .,2002.. 134-144.
6.6.6. Ққ .Ө.,Ә .. қ ә . , 2006. . 77-86.
6.6.7. қ ә . .Ө. Ққң . , 2004. . 114-126.
6.6.8. Ққ .Ө., ұ Ұ.Ә. қ - қ ң -ққ ө. : , 2012. 112 .
Қ:
6.6.9. : . / ., , -, . : . . . . ; . . . .- .: -, 2010.
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қ
6.7.1. () құ ғ:
6.7.1.1.қң ұқ ұ.
6.7.1.2. қ 10 ұқ 3 ұқ
6.7.1.3. қ ә ғ ә
6.7.2. ә ғ құ ғ:
6.7.2.1. қ , үң.
6.7.2.2. қң:
қ ң қң | ||
1. | 46,XX,del(5p | |
2. | 46,XY,dup(ll)(ql2) | |
3. | 46,XY,inv(10)(pl3ql2 | |
4. | 45,XX,rob (14q21q) | |
5. | 46,, (16) | |
6. | 46,, t(2;4)(q21;q21) | |
7. | 46,/47,,+21 |
6.7.2.3. қ ә ң ә ү.
6.7.3. қ ұқ:
6.7.3.1. ң .
6.7.3.2. қ, қ ә , .
6.7.3.3. қ, қ ә ң .
Ү ү ө:
Ққ | ғ | |
қ ғң ө | , | Genomic mutations mutations characterising by change of sets of chromosomes |
- ұ ң қ ң қ ғ (2n+n, 2n+2n, 2n+3n ә .). | (2n+n, 2n+2n,2n+3n ..). | Polyploidy -increase in the whole sets of a diploid set of chromosomes (2n + n, 2n + 2n, 2n + 3n, etc.). |
- ұ ң ғң | (n) . | Haploid (n) the presence of a single set of chromosomes in a karyotype |
ұ қ ң ө | Heteroploidy -a change in the number of certain individual chromosomes in the diploid set of chromosomes | |
(2n-2) ұ. ң ғ ұ ң . | (2n-2) - . | Nullisomy (2n-2) -a reduction of the diploid number of chromosomes by a whole pair of chromosomes. |
(2n-1) ұ қң ғ . | (2n-1) . | Monosomy (2n-1) -a reduction of the diploid set of chromosomes by one chromosome. |
(2n+1) ұ ң ұ ғ . | (2n+1) - . | Trisomy (2n + 1) -is an increase in the number of chromosomes by one chromosome in a pair. |
ң құң ө | Aberrations changes of structure of chromosomes | |
өң ң ң, ө ә ғ () қ ғ ң қ құ | (), , () | Translocation exchange of part of chromosomes between two or more chromosomes |
i - i- ii өii . | - . | Reciprocal translocations- two non-homologous chromosomes mutually exchange sections. |
i - i ii ң өii ғ ө өi ұ. | - . | Non-reciprocal translocation -one chromosome is added a fragment from another non-homologous chromosome. |
қ - ң ү қ ү. | - , . | Robertsonian translocations due tobreaks near centromeric regions of chromosomes two fragments of different chromosomes are joined at their centromeres. |
қ ң ө ң қ өң . | - - , . | Duplication doubling of a segment of a chromosome, which leads to an increase in the genetic material. |
ң өң ү ү. | - . | Deletion mutations, characterized by loss of a small part of a chromosome. |
ң өң ү ү. | - . | Deficiency- mutations, characterized by loss of an end part a chromosome. |
ң өң ү, 1800 ұ қ ө ғ. | - , 180 . | Inversion a fragment of a chromosome is broken, inverted by 180 and inserted back into the chromosome in a wrong way. |
қ - құң ө | - , | Chromosomal diseases diseases caused by changes of number structure of chromosomes |
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Құ: қ. Ә.Қ.Қ
14 - ә қ