Document Detail


Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36.
MedLine Citation:
PMID:  7607651     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
H Eiberg; A M Lund; M Warburg; T Rosenberg
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  96     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1995 Jul 
Date Detail:
Created Date:  1995-08-17     Completed Date:  1995-08-17     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  33-8     Citation Subset:  IM    
Affiliation:
University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics B24.4, Danish Centre for Genome Research, Copenhagen.
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MeSH Terms
Descriptor/Qualifier:
Cataract / congenital*,  genetics*
Chromosome Mapping
Chromosomes, Human, Pair 1*
Female
Genotype
Humans
Linkage (Genetics)*
Lod Score
Male
Pedigree
Telomere

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