Petrova N V, Kashirskaya N Yu, Vasilyeva T A, Timkovskaya E E, Voronkova A Yu, Shabalova L A, Kondratyeva E I, Sherman V D, Novoselova O G, Kapranov N I, Zinchenko R A, Ginter E K, Makaov A Kh-M, Kerem B
Federal State Budgetary Institution, Research Centre for Medical Genetics, Moskvorechje St., 1, Moscow 115478, Russian Federation.
Federal State Budgetary Institution, Research Centre for Medical Genetics, Moskvorechje St., 1, Moscow 115478, Russian Federation.
J Cyst Fibros. 2016 May;15(3):e28-32. doi: 10.1016/j.jcf.2016.02.003.
Cystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease. The spectrum and frequency of CFTR mutations vary significantly in different populations and ethnic groups. A genetic epidemiological study was conducted in the indigenous ethnic group of people known as the Karachais. They live in the Republic of Karachay-Cherkessia, which lies in the northwest of Russia's North Caucasus region. Karachai's are Turkic-speaking and consist of 194 thousand people (approximately 40% of the population of the Republic). Molecular genetic analysis was performed in 10 unrelated Karachai families with CF patients from three districts in the Republic. A high frequency of W1282X mutation was found (18 of 20 mutant alleles): eight patients were homozygous for the W1282X mutation, and two were compound heterozygous (the second alleles were R1066C and R709X). Analysis for 13 common CF mutations in the sample of 142 healthy Karachais identified two 1677delTA and two W1282X mutation carriers. Thus, the most common CFTR mutation, F508del, was not detected among the CF patients or in healthy Karachais. The most frequent mutation among Karachai patients is W1282X (90%). Its frequency in healthy Karachais is approximately 0.007. Haplotype analysis using the CFTR intragene DNA markers IVS1CA, IVS6aGATT, IVS8CA and IVS17bCA showed that the origins of the W1282X mutation in Karachay-Cherkessia and the Eastern European part of Russia are different.
囊性纤维化（CF；OMIM #219700）是一种常见的常染色体隐性疾病。CFTR突变的谱型和频率在不同人群和种族中差异显著。对被称为卡拉恰伊人（Karachais）的本土民族进行了一项遗传流行病学研究。他们生活在位于俄罗斯北高加索地区西北部的卡拉恰伊-切尔克斯共和国（Republic of Karachay-Cherkessia）。卡拉恰伊人说突厥语，人口约19.4万（约占该共和国人口的40%）。对来自该共和国三个地区的10个患有CF的不相关卡拉恰伊家庭进行了分子遗传学分析。发现W1282X突变的频率很高（20个突变等位基因中有18个）：8名患者为W1282X突变纯合子，2名患者为复合杂合子（第二个等位基因为R1066C和R709X）。在142名健康卡拉恰伊人的样本中对13种常见的CF突变进行分析，发现了两名1677delTA突变携带者和两名W
