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The genetics of congenital amusia (tone deafness): A family-aggregation study

机译:先天性失语(音调性耳聋)的遗传学:一项家庭聚集研究

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摘要

Congenital amusia (commonly known as "tone deafness") is a lifelong impairment of music perception that affects 4% of the population. To estimate whether congenital amusia can be genetically transmitted, its prevalence was quantified by direct auditory testing of 71 members of 9 large families of amusic probands, as well as of 75 members of 10 control families. The results confirm that congenital amusia is expressed by a deficit in processing musical pitch but not musical time and also show that the pitch disorder has a hereditary component. In amusic families, 39% of first-degree relatives have the same cognitive disorder, whereas only 3% have it in the control families. The identification of multiplex families with a high relative risk of experiencing a musical pitch deficit (lambda(s) = 10.8; 95% confidence interval 8-13.5) enables the mapping of genetic loci for hereditary amusia.
机译:先天性失语症(通常称为“音调性耳聋”)是一生的音乐知觉损害,影响了4%的人口。为了估计先天性躁狂症是否可以遗传传播,通过对9个大型先证者家族的71个成员以及10个对照家族的75个成员的直接听觉测试来量化其先天性。结果证实,先天性躁狂症是由处理音调不足而不是音乐时间表示的,并且表明音调障碍具有遗传成分。在音乐家庭中,39%的一级亲属有相同的认知障碍,而在对照组中只有3%的认知障碍。鉴定具有发生音调缺陷的相对风险较高的多重家族(λ= 10.8; 95%置信区间8-13.5)可用于遗传性遗传性失忆的遗传基因座定位。

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