ASSIGNMENT OF CONGENITAL CATARACT VOLKMANN TYPE (CCV) TO CHROMOSOME 1P36

被引:81
作者
EIBERG, H
LUND, AM
WARBURG, M
ROSENBERG, T
机构
[1] UNIV COPENHAGEN HOSP,DEPT PEDIAT,DIV CLIN GENET,DK-2100 COPENHAGEN,DENMARK
[2] HERLEV HOSP,DIV PEDIAT OPTHALMOL & HANDICAPS,HERLEV,DENMARK
[3] NATL EYE CLIN VISUALLY IMPAIRED,HELLERUP,DENMARK
关键词
D O I
10.1007/BF00214183
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Congenital cataract, type Volkmann (McKusick no 115665, gene symbol CCV) is an autosomal dominant eye disease. The disease is characterized by a progressive, central and zonular cataract, with opacities both in the embryonic, fetal and juvenile nucleus and around the anterior and posterior Y-suture. We examined blood samples from 91 members of a Danish pedigree comprising 426 members, by using highly informative short tandem repeat polymorphisms and found the closest linkage of the disease gene (CCV) to a (CA)(n) dinucleotide repeat polymorphism at locus D1S243 (Zmax = 14.04 at theta(M) = 0.025 theta(F) = 0.000), at a penetrance of 0.90. Using two additional chromosome 1 markers, we were able to map the CCV gene in the sequence 1pter-(CCV, D1S243)-D1S468-D1S214. The (enolase 1) gene has been mapped to this area; however, a mutation described in this gene did not give eye disease.
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页码:33 / 38
页数:6
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