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A deletion mutation in the βA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
- Source :
- Human Genetics; Jan2004, Vol. 114 Issue 2, p192-197, 6p
- Publication Year :
- 2004
-
Abstract
- Congenital cataracts are an important cause of blindness worldwide. In a family of Chinese descent, a dominant congenital nuclear cataract locus was mapped to chromosome 17q11.1-12. The maximum LOD score, 2.49, at recombination fraction 0, was obtained for marker D17S1294. The results of both linkage and haplotype analyses defined a disease-gene to an 11.78-cM region harboring the gene coding for βA1/A3 crystallin (CRYBA1/A3). Mutation analysis of the CRYBA1/A3 gene identified a 3-bp deletion in exon 4, which cosegregated with the disease risk in this family and was not observed in 100 normal chromosomes. This mutation resulted in the deletion of a highly conserved glycine at codon 91 (ΔG91) and could be associated with an incorrect folding of βA1/A3 crystallin. It highlights the physiological importance of crystallin and supports the role of CRYBA1/A3 in human cataracts formation. [ABSTRACT FROM AUTHOR]
- Subjects :
- GENETIC mutation
GENES
DNA
HEREDITY
FAMILIES
Subjects
Details
- Language :
- English
- ISSN :
- 03406717
- Volume :
- 114
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 16860472
- Full Text :
- https://doi.org/10.1007/s00439-003-1049-7