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[德意志民主共和国的威尔逊氏病。I. 遗传学与流行病学]

[Wilson's disease in the German Democratic Republic. I. Genetics and epidemiology].

作者信息

Bachmann H, Lössner J, Biesold D

出版信息

Z Gesamte Inn Med. 1979 Dec 15;34(24):744-8.

PMID:549306
Abstract

The experiences of the central institution for Wilson's disease are reported. On the basis of 126 patients who come from 90 clans with 92 families the authors adopt a definite attitude to the problem of genetics, epidemiology and genetic family consultation. The unexceptional validity of the autosomal-recessive hereditary transmission may be confirmed. An incidence of 2.9/100,000 is assumed, from which a gene frequency of 0.53% and a frequency of heterozygotes of 1.05% can be estimated. The questions of the genetic background of polyphenia are discussed.

摘要

报告了治疗肝豆状核变性中央机构的经验。基于来自90个家族92个家庭的126例患者,作者对遗传学、流行病学和遗传家庭咨询问题采取了明确的态度。常染色体隐性遗传传递的绝对有效性可以得到证实。假定发病率为2.9/10万,由此可估计基因频率为0.53%,杂合子频率为1.05%。讨论了多形性遗传背景的问题。

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