白内障             2013                                      PO0036

　　Screening the γ-crystallin genes in congenital nuclear cataract family

　　Zeng kun, Huang lina

　　Shenzhen Eye Hospital, 518001

　　Aim: Through pedigree analysis of a congenital cataract family and screening of the γ-crystallin genes in the family, explore the association between the genes and the disease in this family.

　　Methods: Confirm the inheritance character of the family by pedigree analysis. Extract the genomic DNA and amplify the CRYGA, CRYGB, CRYGC, CRYGD genes. The genes were sequenced directly. The nucleotide alternations which were found to lead to amino acid variance were screened by conformation sensitive gel electrophoresis (CSGE) and sequencing in 95 controls.

　　Result: It’s autosomal dominant inheritance in this family. The affected individuals are characterized by nuclear cataract and nystagmus present at birth and progress with time. Nine sequence variances were found in this family: 36-21G>A and 443T>C in CRYGA, 9-36-37insC, 192C>T and 331C>A in CRYGB, 252+21T>G in CRYGC, 51T>C, 252+30T>C and 252+82C>Tin CRYGD. No nucleotide alternations were identified as cosegregating with the disease. Two nucleotide variances lead to amino acid substitutions: L148P in polypeptides of γA-crystallin and L111I in polypeptides of γB-crystallin, respectively. These amino acid alternations were also found in the control group. The frequencies show no significant difference between the family and the control.

　　Conclusion: It’s an autosomal dominant congenital nuclear cataract family. Nine sequence alternations of CRYG genes were found in this family. The γ-crystallin genes are unlikely to be responsible for the disease in this congenital cataract family. The disease may be caused by other gene mutation.
　
　　声明:本站独家报道，转载须标明来源“中华眼科在线”