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Multiple alleles. Genetics of the ABO blood group system. Medical significance

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6.4.5. . .

6.4.6. .

 

6.5. : , , ; , , , , ; , : , .

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6.6.1. . . .. .: , 2006. . 82-115.

6.6.2. .. . : .. -, 2007. . 35-39, 55-57.

6.6.3. . . . .. , 2004. . 104-115.

6.6.4. .. ( ). : , 2009. . 37-44.

6.6.5. Ққ .Ө., ұ Ұ.Ә. қ-қ ң -ққ ө. : , 2012. 112 .

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6.6.6. . . .. 2- . .: , 2001. .1. . 234-242.

6.6.7. .., .. . . --. 2002. . 106-116.

6.6.8. ( ). . . . . ., 2004. . 68-83.

6.6.9. : ./ . , . -, . : . . . . ; . . . . . ., -, 2010. . 203-205.

 

6.7. :

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  ң ө ү Allele each of two or more alternative forms of the same gene
( ), ғғ ң қ ғ қ қ ң (қ ң) ғ Genotype aggregate number of genes in diploid set of chromosomes in organism
,     қ қ ғң қ ң ғ Phenotype single or aggregate number of external signs, controlling by genes    
()   қ қ ғ ң (ң) ә қ ң ө Dominance expression of allele and trait controlled by allele in heterozygous state  
(=) қ қ ң қ қ ө (=)   Complete dominance dominant gene completely inhibits recessive gene (=)
()   қ ң ө ң ә () Incomplete dominance recessive gene has an impact on the phenotypic expression of a dominant gene()
  қ қ ғ ң ө Co-dominance cooperative phenotypic expression of two dominant alleles in heterozygotes  
- , ғ қ ң қ ғ қ ғғ қғ қ ә ө Overdominance greaterexpressionofa dominant gene in heterozygous state than in homozygous state
- қ ң ө ә ң ң ққ ғ. Complementation interaction of two non-allelic dominant genes resulting in the occurrence of a new trait.
- . ң . Epistasis inhibition of one gene by another.
, . - ә ү ұң ә, - қ, ққ ғ. Polymerism interaction between genes of different allelic pairs but with equal effects on a trait complementing each other.
- қ қ ң ө ә. Penetrance probability of gene expression shown in percentage.
- . қ ң қ ө әң қ . Expressivity degree of expression of the same trait in different individuals.
- . ң қ. Pleiotropy determination of several traits by one gene.

 

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Developmental biology: definition, types, periods

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6.6. :

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6.6.1. .. . : .. -, 2007. .369-389.

6.6.2. . . . .. , 2004. . 208-227.

6.6.3. .. ( ). : , 2009. . 54-71.

6.6.4. . . . . .: , 2006. . 291-314.

6.6.5. Ққ .Ө., ұ Ұ.Ә. қ-қ ң -ққ ө. : , 2012. 112 .

 

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6.6.6. . . .. 2- . .: , 2001. .1. . 276-415.

6.6.7. : /... .. .-.: -, 2012..81-125.

6.6.8. .., .. . , 2005. 260 .

6.6.9. : ./ ., . -, . : . . . . ; . . . . . ., -, 2010. . 254-259, 355-379.

 

6.7. :

6.7.1. ():

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, ң ғғ, қ ө Apoptosis process of programmed cell death, physiological cell death  
() ң (ғң) ү Ontogenesis process of individual development of organism  
, () ; , қ ң әү ө () қ ң әү ә ғ ң ғ қ ұқ ң ң ә; қ ң әү қ қ әү әү ү ұң қ қ Ooplasmic segregation egg cytoplasm heterogeneity phenomenon caused by unequal distribution of biologically active substances in different parts of ooplasm and oocyte position in maternal organism  
() () ң ғ ң ә ғ ң қ ү Determination choice of direction of development of undifferentiated cells accompanying by converting them to differentiated cells    
- . ң ii ұң , ү ұң қ әi ң қ. Differentiationis formation of specialized cells as a result of appearance of differences between homogenous cells.
, - ; ( ) қ қ қ үң ң қ; ғ ә ғ ( ә ә ү қ) Positional information information (chemical signals) obtained by germ (undifferentiated) cells from ooplasm resulting in determination of them  
- , , . ң ң ң , Migration movement of cells, which has a great importance from the start of gastrulation
- ұқ ң Adhesion unificationofcellsofthesametype.
- . қ ә қ ғ . ң ө ң ң қ Genes with maternal effect active in female organism. Products of these genes remain in the egg and determine spatial axis of the embryo.
- . ң ү қ Segmentation genes genes responsible for formation of segments.
, ң қ Homeotic genes genes taking part in cells determination  
Ү ғ ү Housekeeping genes constantly active genes  
, () қ () Luxury genes genes activating in differentiated cells  

 

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Congenital malformations: definition, mechanisms oftheir formation

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6.6.1. . . .. .: , 2006. . 291-314.

6.6.2. .. . : .. -, 2007. . 369-389.

6.6.3. . . . .. , 2004. . 220-227.

6.6.4. .. ( ).: , 2009. . 63-71.

6.6.5. . .. 2- . .: , 2001. .1. .234-242.

6.6.6. Ққ .Ө., ұ Ұ.Ә. қ-қ ң -ққ ө. : , 2012. 112 .

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6.6.7. .., .. . . -- .2002. . 106-116.

6.6.8. ( ). . . .. ., 2004. . 68-83.

6.6.9. : /... .. .-.: -, 2012..704-725.

6.6.10. .., .. . , 2005.260 .

6.6.11. : ./ ., . -, . : . . . . ; . . . . . ., -, 2010. . 355-363.

6.6.12. . . . .: -, 2006. . 81-109.

6.7. :

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, ,   ң ққ үң қң ұ қ қ ң қ ұқ қ ө Congenital malformations - persistent morphological and functional changes of organs resulting from early ontogenetic development disorders  
-, . ң қ ң қ әү ң ә ң. Criticalperiodsofontogenesisare the periods most sensitive to harmful effect of various factors.
, () ң (ң) құ қң ұ ң ққ Gametopathies - congenital malformations caused by damage of structure and function of reproductive sells (gametes)  
, ұқң ң ұ ә ң ққ Blastopathies - congenital malformations caused by damage of embryo development at the stage of blastula  
- , қ ұқң ң ұ ққ Embryopathies - congenital malformations caused by damage of embryo development at the embryonic stage  
- , () ә (қ) ң ұ ққ үң ұ ққ Fetopathies congenital malformations caused by damage of organ development which was initially well-formed  
, қғ ү ң ққ Isolated congenital malformations occurred in a single organ  
, ү ү ң ққ Systematic congenital malformations occurred in a single system
ө ә ө ү ң ққ Multiple congenital malformations of two or more organs
ққң ә ү Teratogenesis process of arising and development of congenital malformations
, қ ұ, ң ққ қ Teratogens environmental factors which interfere with normal ontogenetic development followed by emergence of congenital malformations
, ()   ққң ә () ғ Teratology science studying causes and mechanisms of congenital malformations development  
  iiң Atresia - congenital absence of natural body orifice  
-   қң Stenosis narrowing of orifice

 

 

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6.6.1. . . .. . 2. ., 2001, .17-20, . 30-45.

6.6.2. .. . ., 2008, . 44-54.

6.6.3. . . . .. , 2004, . 185-200.

6.6.4. . . .. ., 2006, . 315-326.

6.6.5. .. . ., 2003, . 301-321.

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, . қ, ү , ұқ қ ң ғ. Population group organisms part of species in habited in definite region for a long time.
́ . ғ ә ң (). Panmisy free breeding of organisms in population.
1500 4000 . 80-90 %, 1-2 %. 25 % . қ 1500 4000 ғ . қ ң ғ 80-90 %, қ ғ 1-2 % құ . Ұқ ұғң ғ ө 25 % құ. Demos - a population with a population of 1,500 to 4,000 people. The frequency of consanguineous marriages of 80-90%, the flow of genes from other populations is 1-2%. The natural population growth rate of 25% per generation.
, , , . . қ ү -ғ ұ ң ө, ө ң ғ өң ү. Genetic load part heritages, variability of a po pulation, which determines the appearance of the less fit individuals exposed to the election of death in the process of natures. the selection
- - ө ғ Outbreeding - marriages between unrelated individuals
-қ Inbreeding- marriages are marriages between related individuals
- , i- - , ғ ә iңii ғ Incest - marriages between parents and children, or brothers and sisters
- , қ ү ң қ құң ө ү Elementary evolutionary faktoray -are processes that result in changes in the genetic composition of the population
. ғ ң ң қ ү Migration -is the process of receipt of new genes in a population.
- , . ұқ ғ ң қ (қ) ә ө - ү. Gene drift - changes of gene frequency by chance, usually observes in small (isolated) populations.
́ . қ қ ү ң () үң қ қ. Isolation, exclusion or difficulty of interbreeding between individuals of the same species.
- , . ққ ң ң ң Mutation - the emergence of new alleles and combinations of transition populations in the heterozygous state.
, , . ғ ұ ұ ғң қ әү қ , ң ә ү ө ү ғ ү қ . Natural selection - it is the main defining factor of evolution, the genetic diversity of organisms and contribute to their adaptation to different conditions of existence.
. ұқ ұ iң iiң қ. Stabilizing selection preserves populations medium variant phenotype or characteristic.
() , . Қғ /ғғ/ ұ iң ii i ғ ii өi қ i, ұ iiң әiiң өi өii. The driving (directed) selection determines the sequential change in phenotype in a certain direction, which is manifested in a shift of the mean values of selected features in the direction of their increase or decrease.
() , . i /өi/ ұ i қ, қ . Disruptive (tearing) selection retains extreme options, eliminating the intermediate or medium options.
. қ , қ қ ғ ң The population - the total number of individuals in a given territory or in a given volume.
- , , . өii ұ i ii қ қ iii i ү ң ғ i әiң . The birth rate -the average number of births per one hundred or one thousand, for the year or any other time unit.
- , , . Өi өii ұ i ii қ қ iii i ү ң ғ i қ ғ ғң . The mortality rate -the number of deaths or fatalities per one hundred or one thousand, for the year or any other time unit.
. ң қ құ ғ ү ғ ң -қ The age structure of the population -the ratio in the population of individuals of different age groups.
()- , ; қ () ң ң қ ғ ә , ғ; Ecological genetics (ecogenetics) - science studying influence of harmful environmental factors on genetic health of people;
- , - ғң ә-әң ә қғ қ қ ғ ғ harmacogenetics-scientific field that studies geneticheky control the body's response to drug slekarsvennye  

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Genetic diseases of humans: definition, classification, causes and mechanisms of development

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6.6. :

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6.6.1. .. . .: -, 2006. . 48-64,211 -250, 323-335.

6.6.2. . . .. .,2004. . 11-32.

6.6.3. . . .. .: , 2006. . 411-429, 395-400.

6.6.4. .. . .: , 2003. . 22-27, 187- 199.

6.6.5. .. ( ). : , 2009. . 121-128.

6.6.6. . . . . . , 2004. . 133-146.

 

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6.6.8. : /... .. .-.: -, 2012..479-511.

6.6.9. ., ,. . . --. 2002. .195-200, 228-235.

6.6.10. .., .. .: , 2003. .141-153.

6.7. :

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