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一个大型黑人家族的细胞遗传学研究:倒位、异态性及分离分析。

Cytogenetic study of a large black kindred: inversions, heteromorphisms, and segregation analysis.

作者信息

Fogle T A, McKenzie W H

出版信息

Hum Genet. 1980;55(3):345-52. doi: 10.1007/BF00290216.

Abstract

Q-and C-band heteromorphisms were determined by sequentially staining cells from 81 members of an American Black kindred. The incidence of heteromorphs is reported for 14 people who married into the family. Small pericentric inversions of chromosome 3 were found in 23 kindred members, three of whom were homozygous. Six 'complete' chromosome 9 inversions and a single 'partial' inv9 were detected. there was no apparent phenotypic effect associated with the inversions, nor were duplication-deficiency chromosomes observed. Evidence for preferential segregation of Q-heteromorphs is reported, and comparison with data from other authors points to chromosome 13 as showing the most distortion.

摘要

通过对一个美国黑人家族81名成员的细胞进行连续染色,确定了Q带和C带异态性。报告了14名嫁入该家族者的异态发生率。在23名家族成员中发现了3号染色体小的臂间倒位,其中3人是纯合子。检测到6个“完全”的9号染色体倒位和1个“部分”的inv9。这些倒位没有明显的表型效应,也未观察到重复-缺失染色体。报告了Q异态优先分离的证据,与其他作者的数据比较表明,13号染色体的畸变最为明显。

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