人类胰岛素基因座与β-珠蛋白基因座内部及之间的重组
Recombination within and between the human insulin and beta-globin gene loci.
作者信息
Lebo R V, Chakravarti A, Buetow K H, Cheung M C, Cann H, Cordell B, Goodman H
出版信息
Proc Natl Acad Sci U S A. 1983 Aug;80(15):4808-12. doi: 10.1073/pnas.80.15.4808.
Abstract
We detected a large number of polymorphic insulin restriction fragments in black Americans. These different size fragments were probably generated by unequal recombination on both sides of the human insulin gene. Population genetic analysis indicates that recombination occurred 33 times more frequently than expected to generate this large number of polymorphic fragments. Specific properties of the unique repeated 14- to 16-base-pair sequences 5' to the insulin gene suggest that this sequence would promote increased unequal recombination. Additional pedigree analysis showed that the recombination rate between the structural insulin and beta-globin gene loci was 14% with strong evidence for linkage. Since both insulin and beta-globin have been mapped to the short arm of human chromosome 11, this study establishes that the genetic map distance between these genes is 14.2 centimorgans.
摘要
我们在非裔美国人中检测到大量多态性胰岛素限制片段。这些不同大小的片段可能是由人类胰岛素基因两侧的不等交换产生的。群体遗传分析表明，为产生如此大量的多态性片段，交换发生的频率比预期高33倍。胰岛素基因5'端独特的重复14至16个碱基对序列的特殊性质表明，该序列会促进不等交换增加。额外的家系分析表明，结构胰岛素和β-珠蛋白基因座之间的交换率为14%，有很强的连锁证据。由于胰岛素和β-珠蛋白都已定位到人类11号染色体的短臂上，本研究确定这些基因之间的遗传图距为14.2厘摩。
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