人类β-珠蛋白基因簇内近期重组事件的鉴定。
Identification of a recent recombination event within the human beta-globin gene cluster.
作者信息
Gerhard D S, Kidd K K, Kidd J R, Egeland J A, Housman D E
出版信息
Proc Natl Acad Sci U S A. 1984 Dec;81(24):7875-9. doi: 10.1073/pnas.81.24.7875.
Abstract
In a detailed study of inheritance of DNA sequence polymorphism in a large reference pedigree, an individual was identified with an apparent genetic recombination event within the human beta-globin gene cluster. Analysis of the haplotypes of relevant individuals within this pedigree suggested that the meiotic crossing-over event is likely to have occurred within a 19.8-kilobase-pair region of the beta-globin gene cluster. Analysis of other DNA markers closely linked to the beta-globin gene cluster--segment 12 of chromosome 11 (D11S12) and loci for insulin, the cellular oncogene c-Ha-ras, and preproparathyroid hormone--confirmed that a crossover event must have occurred within the region of chromosome 11 between D11S12 and the beta-globin gene cluster. It is suggested that the event observed has occurred within a DNA region compatible with recombinational "hot spots" suggested by population studies.
摘要
在一项对一个大型参考家系中DNA序列多态性遗传的详细研究中，鉴定出一个个体在人类β-珠蛋白基因簇内发生了明显的基因重组事件。对该家系中相关个体单倍型的分析表明，减数分裂交叉事件很可能发生在β-珠蛋白基因簇的一个19.8千碱基对区域内。对与β-珠蛋白基因簇紧密连锁的其他DNA标记——11号染色体的第12区段（D11S12）以及胰岛素、细胞癌基因c-Ha-ras和前甲状旁腺激素的基因座——的分析证实，在11号染色体上D11S12和β-珠蛋白基因簇之间的区域必定发生了一次交叉事件。有人提出，观察到的这一事件发生在与群体研究提出的重组“热点”相符的一个DNA区域内。
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c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p.原癌基因c-Ha-ras-1位于人类11号染色体短臂上的β-珠蛋白基因座和胰岛素基因座之间。
Am J Hum Genet. 1984 Mar;36(2):329-37.
10
Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man.β-珠蛋白基因座与甲状旁腺激素（PTH）基因座相连，且在人类中位于胰岛素基因座和PTH基因座之间。
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