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由人类c-abl基因(ABL)内的缺失引起的限制性片段长度多态性。

Restriction fragment length polymorphism caused by a deletion within the human c-abl gene (ABL).

作者信息

Xu D Q, Galibert F

出版信息

Proc Natl Acad Sci U S A. 1986 May;83(10):3447-50. doi: 10.1073/pnas.83.10.3447.

Abstract

A restriction fragment length polymorphism at the human c-abl locus (ABL) has been detected in 67 unrelated individuals by agarose gel electrophoresis and Southern blot hybridization using 32P-labeled v-abl probes. This polymorphism is generated by the existence of two alleles, a and b, which are in Hardy-Weinberg equilibrium, with frequencies of 94.8% and 5.2%, respectively. The minor allele, b, is due to a deletion of about 500 base pairs in an intron located downstream of the codon for the phosphate-acceptor tyrosine residue of the c-abl gene product.

摘要

利用32P标记的v-abl探针,通过琼脂糖凝胶电泳和Southern印迹杂交技术,在67名无关个体中检测到人类c-abl基因座(ABL)的限制性片段长度多态性。这种多态性由两个等位基因a和b产生,它们处于哈迪-温伯格平衡状态,频率分别为94.8%和5.2%。次要等位基因b是由于c-abl基因产物磷酸受体酪氨酸残基密码子下游一个内含子中约500个碱基对的缺失所致。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1271/323532/dcb88f6fe4f6/pnas00314-0407-b.jpg

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