16号染色体上的遗传性脆性位点：人触珠蛋白基因座的可能定位。

Heritable fragile site on chromosome 16: probable localization of haptoglobin locus in man.

作者信息

Magenis R E, Hecht F, Lovrien E W

出版信息

Science. 1970 Oct 2;170(3953):85-7. doi: 10.1126/science.170.3953.85.

DOI:10.1126/science.170.3953.85

Abstract

We have found recurrent chromosome breaks at a site (the "fragile site") on the long arm of chromosome 16. This site segregates in simple Mendelian dominant fashion in a large family. The distal portion of the chromosome sometimes shows selective endoreduplication. Preliminary linkage results reveal only 3 recombinants in 33 opportunities for recombination between the fragile site and the alpha locus of haptoglobin, an indication that the alpha-Hp gene is located near this region on chromosome 16.

摘要

我们在16号染色体长臂的一个位点（“脆性位点”）发现了反复出现的染色体断裂。在一个大家庭中，该位点以简单的孟德尔显性方式分离。染色体的远端部分有时会出现选择性核内复制。初步连锁分析结果显示，在脆性位点与触珠蛋白α位点之间的33次重组机会中，仅出现了3次重组，这表明α-Hp基因位于16号染色体的该区域附近。