Austin M J, Collins J M, Corey L A, Nance W E, Neale M C, Schieken R M, Brown J A
Department of Human Genetics, Virginia Commonwealth University, Medical College of Virginia, Richmond.
Am J Hum Genet. 1992 Jan;50(1):76-83.
Common chromosomal fragile sites appear to be ubiquitous in humans and other mammals, and, although the molecular basis and function of these sites remain an enigma, it has been speculated that they may be a cytogenetic expression of gene activity. A population survey of 28 twin pairs was conducted to assess the heritability of common fragile-site expression. Our data yielded a heritability estimate of .88 for total site expression, suggesting that these sites may result from some common process that is under relatively stringent genetic control. An analysis of the expression of individual autosomal sites revealed that expression on both homologues in the same cell occurred more frequently than expected.
常见染色体脆性位点似乎在人类和其他哺乳动物中普遍存在,尽管这些位点的分子基础和功能仍是个谜,但据推测它们可能是基因活性的一种细胞遗传学表现。对28对双胞胎进行了一项群体调查,以评估常见脆性位点表达的遗传性。我们的数据得出总位点表达的遗传率估计值为0.88,这表明这些位点可能源于某种在相对严格的遗传控制下的共同过程。对各个常染色体位点表达的分析表明,同一细胞中两条同源染色体上的表达比预期更频繁地出现。