ALKAPTONURIA IN TRENCIN DISTRICT OF CZECHOSLOVAKIA
ALKAPTONURIA IN TRENCIN DISTRICT OF CZECHOSLOVAKIA
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DOI：
10.1002/ajmg.1320020207
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发表时间：
1978-01-01
期刊：
影响因子：
--
通讯作者：
HARMECKO, L
中科院分区：
文献类型：
--
作者：
SRSEN, S;CISARIK, F;HARMECKO, L
几年来，捷克斯洛伐克马丁的临床遗传学研究实验室一直在研究斯洛伐克Trenčín区北部的尿酸尿症(AU)。这些受影响的人是103个碱尿症患者中的一部分，这些患者大多来自斯洛伐克的山区。我们报告了家系分析的结果；人群和受影响家庭的生化尿液筛查；近亲繁殖系数、异婚率和平均婚姻距离的估计，以及AU等位基因频率的计算，以及纯合子和吉特合子的计算结果。发现了12个纯合子，但其中7个来自一个村庄，在这个村庄里，创始人效应--遗传漂移和近亲繁殖--被认为是AU高发的原因。
For several years the Clinical Genetics Research Laboratory at Martin, Czechoslovakia, has been studying alkaptonuria (AU) in the northern part of the District of Trenčín in Slovakia. These affected individuals are part of a group of 103 alkaptonurics originated mostly in the mountainous parts of Slovakia. We report results of pedigree analyses; population and affected‐family biochemical urine screening; estimation of inbreeding coefficient, of exogamy rate and of average marital distance and of calculation of the frequency of the AU allele, and of homozygotes and jeterozygotes in this portion of the Trenčín District. Twelve homozygotes were found, but seven originated from a single hamlet in which a founder effect – genetic drift and inbreeding – are thought to account for the high prevalance of AU.