Gene mapping of a congenital nuclear cataract in a Chinese family
- VernacularTitle:一个致密核性先天性白内障家系致病基因的初步研究
- Author:
Xiaolin HAO
;
Xu MA
;
Feng GU
- Publication Type:Journal Article
- Keywords:
cataract,congenital;
microsatellite repeats;
alleles;
linkage analysis
- From:
Medical Journal of Chinese People's Liberation Army
1981;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective Mapping the responsible gene for congenital nuclear cataract in a family for five generations in Yantai City,Shandong Province,China.Methods Family history and clinical data were recorded.9 unaffected members and 13 affected members in this family were involved in the study.The genes of all the involved members were amplified by polymerase chain reaction(PCR).28 microsatellite polymorphism in the 15 reported disease loci were used as genetic markers.The PCR products from each DNA sample were separated on a 6% polyacrylamide gel and analyzed.Allele-sharing analysis was carried out for exclusion,and linkage analysis was calculated with the LINKAGE(Version 5.1)package.Direct sequencing was used for GJA3 gene.Results The clinical phenotype in this family was isolated congenital nuclear cataract,the pathogenic nutation of the phenotype of which has not been reported yet.For all the 28 markers around the 15 candidate loci,there was no allele-sharing between the affected family members.At the 0.00 recombination frequency,the LOD score was-∝ in 27 of the 28 microsatellite markers with exception of D11S898.No GJA3 gene mutation was found.It indicated that there was no linkage between these markers and the pathogenic gene in this family.Conclusion The responsible gene for the congenital nuclear cataract in this family is not located on the 15 reported loci,which further indicates the clinically and genetically heterogeneity of inherited cataract,and an important clue is provided for finding more cataract responsible genes.The pathogenic gene in this family should be identified through extensive scanning of genes.
