801. [Analysis on mutations of GJB2 gene in Chinese population].
- Author
-
Li JR, Chen Y, Guo WB, Li LX, and Li RQ
- Subjects
- Base Sequence, China, Connexin 26, DNA chemistry, DNA genetics, DNA Mutational Analysis, Family Health, Female, Humans, Male, Mutation, Missense, Pedigree, Sequence Deletion, Connexins genetics, Deafness genetics, Mutation
- Abstract
Objective: To determine the prevalence and types of GJB2 mutations and to investigate the genetic mechanism in Chinese autosomal recessive deafness., Methods: The subjects were four Chinese pedigrees (39 individuals) and 50 normal adults. GJB2 was amplified by PCR. The products were digested with restriction enzyme Apa I, then sequenced., Results: Homozygous deletion C at position 232-235 of GJB2 (235delC),which resulted in frameshift mutation, was found in four affected individuals of two pedigrees; the compound heterozygous deletions (235delC/232G to A) were found in two affected individuals in one pedigree. One carrier with 235delC was found in normal controls (1% allele). Two kinds of polymorphisms 79G to A(V27I) and 3 41A to G(E114G) were found in both affected and normal controls. The frequencies of allele for 79G to A and 341A to G in normal controls were 30%, 21%, respectively., Conclusion: 235delC mutation of GJB2 was related with Chinese autosomal recessive deafness, and the 232G to A(Ala78Thr) missense mutation was found to be a novel mutation.
- Published
- 2003