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美国黑人的人类染色体异态性:II. 次缢痕区(h)臂间倒位的高发生率

Human chromosome heteromorphisms in Americans Blacks: II. Higher incidence of pericentric inversions of secondary constriction regions (h).

作者信息

Verma R S, Rodriguez J, Dosik H

出版信息

Am J Med Genet. 1981;8(1):17-25. doi: 10.1002/ajmg.1320080104.

DOI:10.1002/ajmg.1320080104
PMID:7246602
Abstract

Eighty normal American blacks were studied by the CBG technique (C-bands by barium hydroxide using Giemsa) for estimation of size and inversion heteromorphism of chromosomes 1, 9, and 16, and the data were compared to those of whites using subjectively defined criteria. Size and inversion heteromorphisms were classified into 5 levels. The frequencies of size hetromorphisms of chromosomes 1 and 16 were 10.63% and 6.88%, respectively, which are not significantly different from those of a normal population of whites. A higher incidence of size heteromorphisms for chromosome 9 was noted in whites (47.5% vs 30%). The frequencies of inversion heteromorphism of chromosomes 1, 9, and 16 were 17.5%, 21.9%, and 0.0%, respectively. Overall, 61 chromosomes were found to have an inversion. Of these, 28 were in chromosome 1, and 33 were in chromosome 9. A higher incidence of inversion heteromorphisms of chromosomes 1 and 9 was noted in American blacks, while no inversions were found in chromosome 16 in either population. A significant association of increased size of the h region with inversion (r = 0.99 P less than 0.01) is demonstrated, ie, enlarged h regions have a higher frequency of inversions.

摘要

采用CBG技术(用氢氧化钡处理C带并使用吉姆萨染色)对80名正常美国黑人进行研究,以评估1号、9号和16号染色体的大小及倒位多态性,并使用主观定义的标准将数据与白人的数据进行比较。大小和倒位多态性分为5个等级。1号和16号染色体大小多态性的频率分别为10.63%和6.88%,与正常白人人群的频率无显著差异。白人中9号染色体大小多态性的发生率较高(47.5%对30%)。1号、9号和16号染色体倒位多态性的频率分别为17.5%、21.9%和0.0%。总体而言,发现61条染色体存在倒位。其中,28条在1号染色体,33条在9号染色体。美国黑人中1号和9号染色体倒位多态性的发生率较高,而在两个群体的16号染色体中均未发现倒位。结果表明,h区域大小增加与倒位之间存在显著关联(r = 0.99,P小于0.01),即h区域增大时倒位频率更高。

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引用本文的文献

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The quantitative analysis of constitutive heterochromatic regions of human chromosomes 1, 9, and 16 in relation to size and inversion heteromorphisms in East Indians.东印度人1号、9号和16号人类染色体组成型异染色质区域与大小及倒位异态性的定量分析
Experientia. 1982 Mar 15;38(3):324-6. doi: 10.1007/BF01949370.
2
Aspects of evaluation, significance, and evolution of human C-band heteromorphism.人类C带异态性的评估、意义及进化方面
Hum Genet. 1982;61(4):281-94. doi: 10.1007/BF00276592.
3
Smaller autosomal C band sizes in Blacks than in Caucasoids.
Hum Genet. 1984;66(2-3):286. doi: 10.1007/BF00286619.
4
Human chromosomal polymorphism. II. Chromsomal C polymorphism in Mongoloid populations of Central Asia.人类染色体多态性。II. 中亚蒙古人种群体中的染色体C多态性。
Hum Genet. 1982;60(1):8-9. doi: 10.1007/BF00281254.
5
C-band polymorphisms of chromosome 9: quantification by Ce-bands.9号染色体的C带多态性:通过着丝粒带进行定量分析
Hum Genet. 1987 Sep;77(1):1-5. doi: 10.1007/BF00284704.
6
Pericentric inversions in man: personal experience and review of the literature.人类的臂间倒位:个人经验与文献综述
Hum Genet. 1987 Apr;75(4):333-8. doi: 10.1007/BF00284103.