Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus

被引：3

作者：

Ajioka, RS ^{[1
]}

Yu, P ^{[1
]}

Gruen, JR ^{[1
]}

Edwards, CQ ^{[1
]}

Griffen, LM ^{[1
]}

Kushner, JP ^{[1
]}

机构：

[1] YALE UNIV,SCH MED,DEPT PEDIAT,NEW HAVEN,CT 06510

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 01期

关键词：

haemochromatosis; recombination; borders;

D O I：

10.1136/jmg.34.1.28

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary haemochromatosis (HFE) is a common inherited disorder, affecting approximately five per thousand white people of northern European descent. Genetic linkage and linkage disequilibrium studies indicate that the disease locus is tightly linked to HLA-A and D6S105. Recombination between HFE and HLA class I loci is known to be rare. We report here two pedigrees in which recombinations telomeric of HLA-A occurred. These recombinant events define new centromeric and telomeric borders for the HFE locus.

引用

页码：28 / 33

页数：6

共 24 条

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