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：
暂无
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.
引用
收藏
页码：113 / 117
页数：4
相关论文
共 38 条
  • [1] Wang D.Y.(2005)Recent Progress in Molecular Genetics and Gene Therapy for Retinitis Pigmentosa Zhonghua Yan Ke Za Zhi. 41 188-192
  • [2] Fan B.J.(2007)Long-Term Visual Prognoses in Patients with Retinitis Pigmentosa: The Ludwig von Sallmann Lecture Exp. Eye Res. 85 7-14
  • [3] Wu X.Q.(2010)Variable Phenotypic Expressivity in a Swiss Family with Autosomal Dominant Retinitis Pigmentosa Due to a Mol. Vis. 16 467-475
  • [4] Berson E.L.(2010) Mutation in the Biochem. Biophys. Res. Commun. 401 42-47
  • [5] Gaillard M.C.(2002) Gene Ophthalmic. Genet. 23 1-12
  • [6] Tiab L.(2002)Mutation Spectrum and Frequency of the Hum. Mol. Genet. 11 559-568
  • [7] Li S.(2009) Gene in 248 Chinese Families with Retinitis Pigmentosa Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 26 70-73
  • [8] Xiao X.(2005)Clinical Characterization, Linkage Analysis, and Hum. Genet. 118 501-503
  • [9] Wang P.(2010) Mutation Analysis of a Family with Autosomal Dominant Retinitis Pigmentosa Type 13 (RP13) Acta Ophthalmol. 88 323-328
  • [10] van Lith-Verhoeven J.J.(1996)Mutations in the Inosine Monophosphate Dehydrogenase 1 Gene ( Nature 380 152-154
1234