INVESTIGATION OF THE RELATIONSHIP BETWEEN OSTEOPOROSIS AND THE COLLAGENASE GENE BY MEANS OF POLYMORPHISM OF THE 5'UPSTREAM REGION OF THIS GENE

被引:18
作者
THIRYBLAISE, LM
TAQUET, AN
REGINSTER, JY
NUSGENS, B
FRANCHIMONT, P
LAPIERE, CM
机构
[1] CHU SART TILMAN,EXPTL DERMATOL LAB,B-4000 LIEGE,BELGIUM
[2] CHU BRULL,BONE METAB UNIT,B-4000 LIEGE,BELGIUM
关键词
ALLELE FREQUENCIES; COLLAGENASE; DENATURING GRADIENT GEL ELECTROPHORESIS; OSTEOPOROSIS; POLYMORPHISM;
D O I
10.1007/BF00298750
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Osteoporosis is a slowly progressing disease resulting from an imbalance between bone accretion and degradation. As interstitial collagenase is a key enzyme in the degradation of bone matrix, we investigated a possible relationship between the collagenase gene and osteoporosis. Analysis of an amplified genomic DNA fragment from -524 to +52 by denaturing gradient gel electrophoresis and sequencing allowed us to detect three dimorphic sites upstream of base -300, one of them leading to a BanI restriction site. None of the sites could be directly associated with osteoporosis. The allele frequencies of the three dimorphic sites were estimated. The interallelic ratios were high, thus providing new useful genetic markers for linkage analysis. When comparing these ratios in osteoporotic and nonosteoporotic subjects, no significant differences could be observed.
引用
收藏
页码:88 / 91
页数:4
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