Bachmann H, Lössner J, Biesold D
Z Gesamte Inn Med. 1979 Dec 15;34(24):744-8.
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.
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。
