The study polymorphism of mitochondrial DNA carried out in population of Kazakhs (N=304). The analysis shows that Western Europe (55%) and Eastern Europe (41%) mtDNA lineages exist in the Kazakhs population. A high genetic diversity was observed in the Kazakhs population (h=0.996). Nei's genetic distances using mtDNA haplogroups frequencies are calculated and the situation of the Kazakhs among other peoples is determined. The paper offers analysis of the genetic structure of the Kazakh population using data of the frequencies of mtDNA haplogroups. It is noted a high degree of intensity of gene exchange between the Kazakh population and frontier populations of Russia on the North-West, North, Northeast and East of Kazakhstan.

• MeSH
• genom lidský MeSH
• lidé MeSH
• mitochondriální DNA * genetika   MeSH
• polymorfismus genetický * genetika   MeSH
• populační genetika * MeSH
• výzkumný projekt MeSH
• Check Tag
• lidé MeSH
• Geografické názvy
• Kazachstán MeSH

The mutations of MTHFR gene in various populations are considered as risk factors for neural tube defects. The frequencies of MTHFR genotypes among the mothers of NTD cases were: ССаа - 15,4%, ССас - 15.4%, ССсс - 10%, СТаа - 16.9%, СТас - 30.8%, СТсс - 6.9%, ТТаа - 3.8%, ТТас - 0.8%. The frequencies of this genotypes among controls were: ССаа - 29%, ССас - 21%, ССсс - 6%, СТаа - 30%, СТас - 13%, СТсс - 1%, ТТаа - 1%. Thus, the frequencies of СТас, СТсс, ТТаа, ТТас genotypes of С677Т and А1298С polymorphisms of MTHFR in the basic group authentically exceed similar parameters in the group of healthy control (р<0.05). The research indicates on presence of clinical and diagnostic significance of the investigated polymorphisms of the MTHFR gene in the development of NTDs. Ascertainment of the etiologic aspects of fetal NTDs in the Kazakh population makes it possible to develop preventive measures and optimization of medical genetic counseling in order to reduce fetal NTDs in the population.

• MeSH
• defekty neurální trubice * genetika   MeSH
• dítě MeSH
• lékařská genetika MeSH
• methylentetrahydrofolátreduktasa (NADPH2) * genetika   MeSH
• neurální trubice MeSH
• polymorfismus genetický MeSH
• populační genetika * MeSH
• těhotenství MeSH
• výzkumný projekt MeSH
• Check Tag
• dítě MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Geografické názvy
• Kazachstán MeSH

The article explores mechanisms of non-developing the Ist trimester pregnancy on the basis of studying frequency of polymorphic alleles in folate metabolism genes MTHFR C677T, MTHFR A1298C, MTRR A66G, MTR A2756G, homocysteine level, platelet and plasma haemostasis sections. Polymorphism in MTHFR, MTRR, and MTR genes of folate metabolism causes hyperhomocysteinemia and thrombophilic changes. In conditions of genetically accustomed thrombophilic changes the desynchronization of fibrinolysis and fibrin formation processes during implantation occurs that leads to poor trophoblast invasion and its inadequacy, which in turn causes miscarriage due to non-developing pregnancy in the Ist trimester.

• MeSH
• genetický výzkum MeSH
• hyperhomocysteinemie * genetika   MeSH
• komplikace těhotenství MeSH
• kyselina listová * genetika   metabolismus   MeSH
• lidé MeSH
• methylentetrahydrofolátreduktasa (NADPH2) * genetika   MeSH
• polymorfismus genetický MeSH
• populační genetika MeSH
• první trimestr těhotenství MeSH
• samovolný potrat * genetika   MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH