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[克拉斯诺达尔边疆区人群中遗传性疾病的谱系和地域分布]

[Spectrum and territorial distribution of hereditary diseases in the population of the Krasnodar Krai].

作者信息

Petrin A N, Ginter E K, Galkina V A, Golubtsov V I, Khisamova M V, Mikhaĭlova L K, Khlevnikova O V, Polishchuk V V, Sukolin G I

出版信息

Genetika. 1991 Apr;27(4):719-27.

PMID:1831779
Abstract

The analysis of the spectrum of hereditary diseases in the population of the Krasnodar province is performed and the influence of the population dynamics factors on the spectrum is discussed. More than 130 nosological forms were discovered in the population of approx. 200,000. Among these, there are 63 autosomal dominant, 49 autosomal recessive and 17 X-linked recessive forms. Of the most frequent autosomal dominant diseases (more than 1 per 50,000) autosomal recessive and X-linked recessive disorders 13, 7 and 7 forms, respectively, were picked up. The coefficient of diversity of hereditary diseases (the number of nosological forms per 10 inhabitants) with different types of inheritance is higher in the Krasnodar population, as compared with the Kostroma population. The problem of similarity of the "nucleus" of autosomal-recessive disorders in Russian populations is discussed.

摘要

对克拉斯诺达尔省人口中的遗传性疾病谱进行了分析,并讨论了人口动态因素对该谱的影响。在约20万人口中发现了130多种病种。其中,有63种常染色体显性、49种常染色体隐性和17种X连锁隐性病种。在最常见的常染色体显性疾病(每50000人中有超过1例)、常染色体隐性疾病和X连锁隐性疾病中,分别选取了13种、7种和7种病种。与科斯特罗马人口相比,克拉斯诺达尔人口中不同遗传类型的遗传性疾病多样性系数(每10名居民中的病种数)更高。讨论了俄罗斯人口中常染色体隐性疾病“核心”的相似性问题。

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