A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family
Copyright policy )A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family
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 betaA1/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 (DeltaG91) and could be associated with an incorrect folding of betaA1/A3 crystallin. It highlights the physiological importance of crystallin and supports the role of CRYBA1/A3 in human cataracts formation.
- PEKING UNION MEDICAL COLLEGE China (People's Republic of)
- Chinese Academy of Medical Sciences & Peking Union Medical College China (People's Republic of)
- Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. China (People's Republic of)
Genetic Markers, Male, China, Genotype, Genetic Linkage, Molecular Sequence Data, Chromosome Mapping, Crystallins, Polymerase Chain Reaction, Cataract, Pedigree, Mutation, Humans, Female, Amino Acid Sequence, Lod Score, Chromosomes, Human, Pair 17, DNA Primers, Genes, Dominant, Microsatellite Repeats
Genetic Markers, Male, China, Genotype, Genetic Linkage, Molecular Sequence Data, Chromosome Mapping, Crystallins, Polymerase Chain Reaction, Cataract, Pedigree, Mutation, Humans, Female, Amino Acid Sequence, Lod Score, Chromosomes, Human, Pair 17, DNA Primers, Genes, Dominant, Microsatellite Repeats
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