人类染色体上的遗传性脆性位点。IX. 10q25处依赖溴脱氧尿苷的脆性位点的群体细胞遗传学及分离分析
Heritable fragile sites on human chromosomes. IX. Population cytogenetics and segregation analysis of the BrdU-requiring fragile site at 10q25.
作者信息
Sutherland G R
出版信息
Am J Hum Genet. 1982 Sep;34(5):753-6.
Abstract
The frequencies of the bromodeoxyuridine (BrdU)-requiring fragile site at 10q25 in 1,026 unselected neonates, 901 patients referred for chromosome studies, and 87 institutionalized retardates were not significantly different from each other. The gene frequency was .013, and the population was in Hardy-Weinberg equilibrium. Segregation analysis confirmed that the fragile site followed codominant inheritance. This fragile site and its nonfragile allelomorph can be considered to constitute the first true chromosomal polymorphism to be described in man.
摘要
在1026名未经挑选的新生儿、901名因染色体研究而转诊的患者以及87名收容机构中的智力迟钝者中，位于10q25的需溴脱氧尿苷（BrdU）的脆性位点的频率彼此之间无显著差异。基因频率为0.013，群体处于哈迪-温伯格平衡。分离分析证实该脆性位点遵循共显性遗传。这个脆性位点及其非脆性等位基因可被视为人类中描述的首个真正的染色体多态性。
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