首页   按字顺浏览 期刊浏览 卷期浏览 Characterization of a dinucleotide repeat in the 92 kDa type IV collagenase gene (CLG4B...
Characterization of a dinucleotide repeat in the 92 kDa type IV collagenase gene (CLG4B), localization of CLG4B to chromosome 20 and the role of CLG4B in aortic aneurysmal disease

 

作者: P. L. ST JEAN,   X. C. ZHANG,   B. K. HART,   H. LAMLUM,   M. W. WEBSTER,   D. L. STEED,   A. M. HENNEY,   R. E. FERRELL,  

 

期刊: Annals of Human Genetics  (WILEY Available online 1995)
卷期: Volume 59, issue 1  

页码: 17-24

 

ISSN:0003-4800

 

年代: 1995

 

DOI:10.1111/j.1469-1809.1995.tb01602.x

 

出版商: Blackwell Publishing Ltd

 

数据来源: WILEY

 

摘要:

SummaryProteolytic imbalance may play a role in the pathogenesis of abdominal aortic aneurysms (AAA). CLG4B, which encodes the 92‐kDa form of type IV collagenase, is a candidate gene for AAA. We genotyped a polymorphic dinucleotide repeat in the 5′ flanking region of CLG4B in 94 unrelated Caucasian controls and in 127 unrelated Caucasian AAA cases. Eight alleles were detected in 188 control chromosomes with an observed heterozygosity of 0·68. There was no significant difference in allele distribution between cases and controls. We genotyped the dinucleotide repeat in 10 CEPH reference pedigrees and performed pairwise linkage analysis with markers on each of the 22 human autosomes. Lod scores between 10·45 and 20·29 were observed with markers spanning chromosome region 20q11.2‐q13.1. Further support for assignment of CLG4B to chromosome 20 was provided by analysis of human‐rodent somatic cell hybrids. This work describes a highly polymorphic marker in the CLG4B gene and assigns this gene to chr

 

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