Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa.
- Author:
Wei LIU
1
;
Fang LU
;
Li-feng QIA
;
Zhi-quan SHA
;
Xia-oqi LIU
;
Shi MA
;
Xin TANG
;
Jin-xia CHANG
;
Zheng-lin YANG
;
Bin YE
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; China; Female; Genes, Dominant; Genetic Linkage; Genetic Testing; Humans; Male; Microsatellite Repeats; genetics; Mutation; Pedigree; Phenotype; Retinitis Pigmentosa; diagnosis; genetics; pathology
- From: Chinese Journal of Medical Genetics 2009;26(1):70-73
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo map the disease-causing gene in a Chinese family with autosomal dominant retinitis pigmentosa.
METHODSTwenty-seven micro-satellite markers were randomly selected from the region around the known loci of causative genes, and haplotypes were determined by ABI3100 genetic analyzer. Two-point linkage analysis was performed using MLINK.
RESULTSThe Lod score of each marker vs adRP was below 1.
CONCLUSIONThe phenotype of this family may not be caused by mutation of the known disease-causing genes.
