LINKAGE OF EPIDERMOLYSIS-BULLOSA SIMPLEX TO KERATIN GENE LOCI

被引：9
作者：
MCKENNA, KE [1 ]
HUGHES, AE [1 ]
BINGHAM, EA [1 ]
NEVIN, NC [1 ]
机构：
[1] QUEENS UNIV BELFAST,BELFAST CITY HOSP,DEPT MED GENET,BELFAST BT7 1NN,ANTRIM,NORTH IRELAND
来源：
JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 08期
关键词：
D O I：
10.1136/jmg.29.8.568
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Epidermolysis bullosa simplex (EBS) is an autosomal dominant disorder characterised by intraepidermal blistering of the skin. Two families with Weber-Cockayne EBS have been analysed for linkage to keratin gene loci. In the first family, linkage was found to chromosome 17 markers flanking the keratin 14 gene (D17S74 Zmax = + 2.45, theta = 0.10; COL1A1: Zmax = + 0.97, theta = 0-00) and markers near the keratin 5 gene on chromosome 12 were excluded (D12S17:Z < - 2.0, theta = 0.08; COL2A1: Z < - 2-0, theta = 0.13). In contrast, the second family showed linkage to the region containing the keratin 5 gene (D12S1 7: Zmax = + 1.37, theta = 0-08; COL2A1: Zmax = + 0.33, theta = 0.15) and was not linked to the keratin 14 gene (D17S74: Z < -2.0, theta = 0.14). The Weber-Cockayne form of EBS is genetically hetergeneous with linkage to different keratin gene loci.
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页码：568 / 570
页数：3
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