[Monogenic hereditary diseases in Gorno-Mariĭskiĭ district of Mariĭ El republic].
The population of Gornomariiskii raion, Marii El Republic, primarily made up of mountain Marii, was subjected to medical genetic examination. The size of the entire population is 54853. Estimates of hereditary pathology in urban and rural populations of the raion were obtained. They were 0.68 and 1.11, respectively, for autosomal dominant pathology (AD); 0.55 and 0.81 for autosomal recessive pathology (AR); and 0.45 and 0.20 for X-linked pathology. Twenty-two, 25, and six nosologic forms of autosomal dominant, autosomal recessive, and X-linked diseases were revealed, respectively. We attempted to compare the sample under consideration with previously studied Russian and Finnish populations for rare pathologic recessive genes.
Ginter
E K
EK
Mamedova
R A
RA
Kozlova
S I
SI
Galkina
V A
VA
Rudenskaia
G E
GE
Khlebnikova
O V
OV
Mikhaĭlova
L K
LK
Starkov
I V
IV
Krasnopol'skaia
K D
KD
Moshkina
I S
IS
El'chinova
G I
GI
Rassanov
V P
VP
D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005387:Finland / Q000208:ethnology; D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D008040:Genetic Linkage; D005826:Genetics, Medical; D005828:Genetics, Population; D006801:Humans; D008297:Male; D012423:Rural Health; D012426:Russia; D014504:Urban Health; D014960:X Chromosome
Monogennaia nasledstvennaia patologiia v Gorno-Mariĭskogo raĭone respubliki Mariĭ El.