Gene mapping and mutation screeneng in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosa

被引：0
作者：
F. Xiang
M. Yah
G. Song
F. Zheng
机构：
[1] Zhongnan Hospital of Wuhan University,Center for Gene Diagnosis
[2] Zhongnan Hospital of Wuhan University,Department of Ophthalmology
来源：
Russian Journal of Genetics | 2012年 / 48卷
关键词：
Retinitis Pigmentosa; Night Blindness; Autosomal Dominant Pattern; Zhongnan Hospital; Autosomal Dominant Retinitis Pigmentosa;
D O I：
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中图分类号：
学科分类号：
摘要：
We wanted to find the gene defect in a Chinese pedigree with autosomal dominant form of retinitis pigmentosa (ADRP). A small Chinese family with retinitis pigmentosa was collected. The genetic analysis of the family suggested an autosomal dominant pattern. Microsatellite (STR) markers tightly linked to candidate genes for ADRP were selected for linkage analysis. We got a maximum LOD score of 0.87 between markers D19S210 and D19S418. Precursor mRNA-processing factor (PRPF) 31, 3, 8, rhodopsin (RHO), peripherin 2 (PRPH2 or RDS), rod outer segment protein 1 (ROM1), neural retina leucine zipper (NRL), cone-rod homeobox-containing (CRX), inosine-5-prime-monophosphate dehydrogenase, type I (IMPDH1) and retinitis pigmentosa 1 (RP1) were amplified by polymerase chain reaction (PCR) and screened by direct sequencing. One new sequence variation was found. It was the missence mutation c.148G > C (D50H) occurred in exon 1 of RDS gene which existed in all the effected individuals and one unaffected family member. The DNA sequence variation didn’t cosegregate with the RP disease. We considered this transition was one new polymorphism which we speculate involved in the pathogenesis of ADRP and increased the risk of ADRP. Further study should be conducted to confirm the causative gene of this family.
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页码：113 / 117
页数：4
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