SPONDYLOEPIPHYSEAL DYSPLASIA IN A CAPE-TOWN FAMILY - LINKAGE WITH THE GENE FOR TYPE-II COLLAGEN (COL2A1)

被引：12
|
作者：
RAMESAR, R [1 ]
BEIGHTON, P [1 ]
机构：
[1] UNIV CAPE TOWN,SCH MED,DEPT HUMAN GENET,INHERITED SKELETAL DISORDERS RES UNIT,MRC,RONDEBOSCH 7700,SOUTH AFRICA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 05期
关键词：
AUTOSOMAL DOMINANT; CARTILAGE; GENETIC LINKAGE; MOLECULAR LINKAGE; SKELETAL DYSPLASIA;
D O I：
10.1002/ajmg.1320430516
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A moderately severe form of autosomal dominant (AD) spondyloepiphyseal dysplasia (SED) has been documented in 14 individuals in 3 generations of a family in Cape Town, South Africa. Affected persons had a short trunk; radiographic investigations indicated that skeletal involvement was worst in the hips and spine. Linkage studies with restriction fragment length polymorphisms (RFLPs) associated with the COL2A1 gene and the phenotype yielded a maximal LOD score of 4.51 at theta = 0.00. This result suggests that the structural locus for type II collagen is primarily involved in the pathogenesis of this form of SED.
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收藏
页码：833 / 838
页数：6
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