[CTG-repeat analysis of myotonin protein kinase gene in Bashkortostan patients with myotonic dystrophy].
A DNA analysis of 72 patients from Bashkortostan clinically diagnosed with myotonic dystrophy and 54 their family members was conducted. CTG-repeat expansion in the myotonin proteinkinase gene was found in 67 (92%) patients and 12 their relatives without clinical symptoms of the disease at the moment of examination. A correlation between the most distinct clinical symptoms and CTG-repeat number has been studied. A CTG-repeat expansion in generations was compared to that in sib pairs with myotonic dystrophy. In 17.6% of the cases, CTG-repeat number decreased in the following generations and in 11.7% it did not change, the percentages being higher than those described elsewhere. In general, anticipation phenomenon was confirmed for CTG-repeat in myotonin proteinkinase gene.
Khidiiatova
I M
IM
Fatkhlislamova
R I
RI
magzhanov
R V
RV
Popova
S N
SN
Slominskiĭ
P A
PA
Limborskaia
S A
SA
Khusnutdinova
E K
EK
D000293:Adolescent; D000328:Adult; D001486:Bashkiria; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000453:epidemiology* / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D012720:Severity of Illness Index; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C585517:DMPK protein, human; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases