通过基于聚合酶链反应（PCR）的检测方法对人CD18基因位点的多态性AvaII位点进行研究。
Investigation of the polymorphic AvaII site by a PCR-based assay at the human CD18 gene locus.
作者信息
Mastuura S, Kishi F
机构信息
Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
出版信息
Hum Genet. 1994 Jun;93(6):721. doi: 10.1007/BF00201583.
PMID:7911779
Abstract
The AvaII polymorphic site within the human CD18 gene was investigated in the Japanese population. A distinct distribution pattern is observed in this population. This polymorphism provides a new genetic marker for the long arm of chromosome 21 and should be a useful marker of leukocyte adhesion deficiency caused by mutations of the CD18 gene.
摘要
在日本人群中对人类CD18基因内的AvaII多态性位点进行了研究。在该人群中观察到一种独特的分布模式。这种多态性为21号染色体长臂提供了一种新的遗传标记，并且应该是由CD18基因突变引起的白细胞黏附缺陷的有用标记。
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