Petrova Nika, Balinova Natalia, Marakhonov Andrey, Vasilyeva Tatyana, Kashirskaya Nataliya, Galkina Varvara, Ginter Evgeniy, Kutsev Sergey, Zinchenko Rena
Research Centre for Medical Genetics, Moscow, Russia.
N.A. Semashko National Research Institute of Public Health, Moscow, Russia.
Front Genet. 2021 Jun 16;12:678374. doi: 10.3389/fgene.2021.678374. eCollection 2021.
Cystic fibrosis (CF) is a common monogenic disease caused by pathogenic variants in the gene. The distribution and frequency of variants vary in different countries and ethnic groups. The spectrum of pathogenic variants of the gene was previously studied in more than 1,500 CF patients from different regions of the European and North Caucasian region of Russia and the spectrum of the most frequent pathogenic variants of the gene and ethnic features of their distribution were determined. To assess the population frequency of gene mutations some of the common variants were analyzed in the samples of healthy unrelated individuals from the populations of the European part of the Russian Federation: 1,324 Russians from four European regions (Pskov, Tver, Rostov, and Kirov regions), representatives of five indigenous ethnic groups of the Volga-Ural region [Mari ( = 505), Udmurts ( = 613), Chuvash ( = 780), Tatars ( = 704), Bashkirs ( = 517)], and six ethnic groups of the North Caucasus [Karachay ( = 324), Nogais ( = 118), Circassians ( = 102), Abazins ( = 128), Ossetians ( = 310), and Chechens ( = 100)]. The frequency of common mutations was established in studied ethnic groups. The frequency of F508del mutation in Russians was found to be 0.0056 on average, varying between four regions, from 0.0027 in the Pskov region to 0.0069 in the Rostov region. Three variants W1282X, 1677delTA, and F508del were identified in the samples from the North Caucasian populations: in Karachay, the frequency of W1282X mutation was 0.0092, 1677delTA mutation - 0.0032; W1282X mutation in the Nogais sample - 0.0127, the frequency of F508del mutations was 0.0098 and 1677delTA - 0.0098 in Circassians; in Abazins F508del (0.0039), W1282X (0.0039) and 1677delTA (0.0117) mutations were found. In the indigenous peoples of the Volga-Ural region, the maximum frequency of the F508del mutation was detected in the Tatar population (0.099), while this mutation was never detected in the Mari and Bashkir populations. The E92K variant was found in Chuvash and Tatar populations. Thus, interethnic differences in the spectra of gene variants were shown both in CF patients and in healthy population of the European and North Caucasian part of Russia.
囊性纤维化（CF）是一种由该基因的致病变异引起的常见单基因疾病。变异的分布和频率在不同国家和种族群体中有所不同。此前对来自俄罗斯欧洲和北高加索地区不同区域的1500多名CF患者的该基因致病变异谱进行了研究，并确定了该基因最常见致病变异的谱及其分布的种族特征。为了评估该基因突变的人群频率，对来自俄罗斯联邦欧洲部分人群的健康无关个体样本中的一些常见变异进行了分析：来自四个欧洲地区（普斯科夫、特维尔、罗斯托夫和基洛夫地区）的1324名俄罗斯人、伏尔加 - 乌拉尔地区五个土著民族的代表[马里人（n = 505）、乌德穆尔特人（n = 613）、楚瓦什人（n = 780）、鞑靼人（n = 704）、巴什基尔人（n = 517）]以及北高加索的六个民族[卡拉恰伊人（n = 324）、诺盖人（n = 118）、切尔克斯人（n = 102）、阿巴津人（n = 128）、奥塞梯人（n = 3,10）和车臣人（n = 100）]。在研究的种族群体中确定了常见该基因突变的频率。俄罗斯人中F508del突变的平均频率为0.0056，在四个地区之间有所不同，从普斯科夫地区的0.0027到罗斯托夫地区的0.0069。在北高加索人群的样本中鉴定出三个变异W1282X、1677delTA和F508del：在卡拉恰伊人中，W1282X突变的频率为0.0092，1677delTA突变 - 0.0032；诺盖人样本中W1282X突变 - 0.0127，切尔克斯人中F508del突变的频率为0.0098，1677delTA - 0.0098；在阿巴津人中发现了F508del（0.0039）、W1282X（0.0039）和1677delTA（0.0117）突变。在伏尔加 - 乌拉尔地区的土著民族中，F508del突变的最高频率在鞑靼人群体中检测到（0.099），而在马里和巴什基尔人群体中从未检测到该突变。在楚瓦什和鞑靼人群体中发现了E92K变异。因此，在俄罗斯欧洲和北高加索部分的CF患者以及健康人群中均显示出该基因变异谱的种族差异。
