[克拉斯诺达尔边疆区人群中遗传性疾病的遗传负荷]

[Genetic load of hereditary diseases in populations of the Krasnodar Krai].

作者信息

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

出版信息

Genetika. 1991 Feb;27(2):345-52.

PMID:1831430

Abstract

Medico-genetical study of populations living in Krasnodar district was carried out. The mean value of genetic load contributed by autosomal dominant diseases composed 0.92 +/- 0.06, this value being 0.56 +/- 0.04 for autosomal recessive and 0.36 +/- 0.05 for X-linked recessive disorders per one thousand. Comparative analysis of genetical load in urban and rural populations demonstrated that they had no differences in relation to genetical load contributed by autosomal recessive and X-linked recessive disorders. At the same time, significant differences were noted between the populations concerning genetic load contributed by autosomal-dominant disorders.

摘要

对生活在克拉斯诺达尔地区的人群进行了医学遗传学研究。常染色体显性疾病所致遗传负荷的平均值为0.92±0.06，常染色体隐性疾病所致遗传负荷的平均值为每千人0.56±0.04，X连锁隐性疾病所致遗传负荷的平均值为每千人0.36±0.05。对城市和农村人群遗传负荷的比较分析表明，常染色体隐性疾病和X连锁隐性疾病所致的遗传负荷没有差异。同时，发现人群之间在常染色体显性疾病所致遗传负荷方面存在显著差异。