[The analysis of the SpI (1546G>T) polymorphism of the Col1A1 gene and the FokI (3663T>C) polymorphism of the vitamin D receptor gene in patients with syringomyelia].
The SpI (1546G>T) polymorphism of the CollA1 gene and the FokI (3663T>C) polymorphism of the vitamin D receptor gene have been studied in patients with syringomyelia and controls of different ethnic origin (Tartars, Bashkirs, Russians). Ethnic differences in allele and genotype frequencies have been revealed in the control group. Frequency of the s allele of the CollA1 gene was higher in Russian patients and that of the FokI FF genotype in Tartar patients. The data obtained suggest a possible role of these genes in the pathogenesis of syringomyelia.
Abulgatina
A S
AS
Khusainova
R I
RI
Khidiiatova
I M
IM
Kutuev
I A
IA
Mirsaev
T R
TR
Borisova
N A
NA
Khusnutdinova
E K
EK
D000483:Alleles; D024042:Collagen Type I / Q000235:genetics* / Q000378:metabolism; D000090602:Collagen Type I, alpha 1 Chain; D004247:DNA / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics* / Q000378:metabolism; D012426:Russia / Q000453:epidemiology; D013595:Syringomyelia / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D018167:Receptors, Calcitriol; D004247:DNA