[Polymorphism of CTG-repeats in the DMPK gene in populations of Yakutia and central Asia].
Allele frequency distribution of CTG-repeat in the 3'-flanking region of DMPK gene was analyzed in populations of Yakutia (three ethnogeographical groups of Yakuts, Evenks, Evens, Yukaghirs, Dolgans) and Central Asia (Kazakhs, Uzbeks, Uighurs). Frequencies of CTG alleles were found to be significantly different in two regions. Allele frequency distribution in populations of Yakutia was similar to Asian populations, whereas Central Asian populations showed similarity to European populations. The features of allele spectrum in Yakut populations were discussed in terms of high prevalence of myotonic dystrophy in Yakuts. Our result supports the hypothesis of founder effect in spread of myotonic dystrophy in Yakuts. The phylogenetic relationships between the investigated populations based on polymorphism of CTG-locus of the DMPK gene have been analyzed as well.
Fedorova
S A
SA
Khusainova
R I
RI
Kutuev
I A
IA
Sukhomiatova
A L
AL
Nikolaeva
I A
IA
Kulichkin
S S
SS
Akhmetova
V L
VL
Salimova
A Z
AZ
Sviatova
G S
GS
Berezina
G M
GM
Platonov
F A
FA
Khusnutdinova
E K
EK
D000483:Alleles; D001209:Asia, Central; D044466:Asian People; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000453:epidemiology / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D010802:Phylogeny; D011110:Polymorphism, Genetic; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012800:Siberia; D018911:Trinucleotide Repeats / Q000235:genetics*
C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases