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科斯特罗马地区人群的医学遗传学研究。IV. 5个区遗传病理学的遗传负荷与多样性

[Medico-genetical study of the population of the Kostroma Region. IV. Genetic load and diversity of hereditary pathology in 5 districts].

作者信息

Petrin A N, Ginter E K, Rudenskaia G E, Burkova L M, Khlebnikova O V

出版信息

Genetika. 1987 Jul;23(7):1319-27.

PMID:2958387
Abstract

Data on the prevalence of hereditary diseases in five regions of the Kostroma province were obtained and analysed. 28 autosomal recessive, 25 autosomal dominant and 4 X-linked recessive disorders were found. Segregation analysis proved the rightness of the material subdivision, according to the type of inheritance. The load of hereditary diseases in five regions was: 0.86 +/- 0.09 X 10(3) for autosomal recessive, 0.97 +/- 0.1 X 10(3) for autosomal dominant and 0.36 +/- 0.09 X 10(3) for X-linked recessive disorders. The problems of prevalence of hereditary diseases connected with population structure is discussed.

摘要

获取并分析了科斯特罗马省五个地区的遗传病患病率数据。发现了28种常染色体隐性、25种常染色体显性和4种X连锁隐性疾病。分离分析证明了根据遗传类型对材料进行细分的正确性。五个地区的遗传病负担分别为:常染色体隐性疾病为0.86±0.09×10³,常染色体显性疾病为0.97±0.1×10³,X连锁隐性疾病为0.36±0.09×10³。讨论了与人口结构相关的遗传病患病率问题。

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