Pa. Slominsky et al., Normal polymorphism of the (CTG)(n) repeat in the myotonin protein kinase (DM) gene on chromosome 19q13.3 in Eastern European populations, RUSS J GEN, 36(7), 2000, pp. 809-813
Polymorphism of a highly polymorphic CTG repeat in the 3'-untranslated regi
on of the myotonin protein kinase gene was analyzed in healthy people from
several Eastern European populations (Russians, Moldovans, Belarussians, Ko
mis, 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 heterozy
gosity 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.