Association of congenital deafness with goitre (Pendred's syndrome): A study of 207 families
Association of congenital deafness with goitre (Pendred's syndrome): A study of 207 families
复制标题
先天性耳聋与甲状腺肿（潘德雷德氏综合症）的关联：一项针对 207 个家庭的研究
DOI：
10.1111/j.1469-1809.1964.tb00479.x
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发表时间：
1964
影响因子：
1.9
通讯作者：
B. G. R. Fraser
中科院分区：
文献类型：
--
作者：
B. G. R. Fraser
对大不列颠和爱尔兰的207个家庭（包括334个受影响的个体）进行的研究得出了人口频率（0.000075）、基因频率（0.008）和突变率（每代每百万个位点56个）的估计值。隐性遗传得到证实。耳聋者的高度排斥性交配模式产生了与其他类型先天性耳聋混合的家系。虽然听觉和甲状腺病变都是同一异常基因的多效性效应（在纯合子条件下），但这两种病变的严重程度差异很大，Pendred综合征在先天性耳聋中占很大比例。生化性质的代谢错误，和历史的综合征进行了讨论。数据186 sibships和5页书目包括在内。（PsycInfo数据库记录（c）2023阿帕，保留所有权利）
Study of 207 families in Great Britain and Ireland which included 334 affected individuals led to estimates of population frequency (0.000075), of gene frequency (0.008) and mutation rate (56 per million loci per generation). Recessive inheritance is confirmed. Highly assortative mating patterns in the deaf produce pedigrees with admixtures of other types of congenital deafness. Although the auditory and the thyroid lesion are both pleiotropic effects of the same abnormal gene (in homozygous condition), very wide variation in the severity of both lesions were found. Pendred's syndrome contributes a numerically important share of the congenitally deaf. The biochemical nature of the metabolic error, and the history of the syndrome are discussed. Data on 186 sibships and a 5 page bibliography are included.(PsycInfo Database Record (c) 2023 APA, all rights reserved)