[Normal polymorphism of the (CTG)n repeat in the myotonin protein kinase (DM) gene on chromosome 19q13.3 in Western European populations].
Polymorphism of a highly polymorphic CTG repeat in the 3'-untranslated region of the myotonin protein kinase gene was analyzed in healthy people from several Eastern European populations (Russians, Moldovans, Belarussians, Komis, Chuvashes, Udmurts, Bashkirs, Tatars, Maris, and Mordovians). In total, 26 alleles of the CTG repeat were found, the repeat number ranging from 5 to 33 (alleles with six and seven repeats were not detected). The heterozygosity of individual populations varied from 61 to 91%. In the total sample combining all populations, the observed and expected heterozygosities did not differ (fixation index -0.0022) suggesting selective neutrality of the normal polymorphism of the CTG repeat in the myotonin protein kinase gene.
Slominskiĭ
P A
PA
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia. slomin@img.ras.ru
Popova
S N
SN
Shadrina
M I
MI
Pomazanova
M A
MA
Lomova
T Iu
TIu
Fatkhlislamova
R I
RI
Khusnutdinova
E K
EK
Guseva
I A
IA
Erdes
Sh
Sh
Mikulich
A I
AI
Spitsyn
V A
VA
Limborskaia
S A
SA
D000483:Alleles; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D005061:Europe, Eastern; D006579:Heterozygote; D065636:Myotonin-Protein Kinase; D011110:Polymorphism, Genetic; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D018911:Trinucleotide Repeats
C585517:DMPK protein, human; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases