Gene mapping of autosomal dominant retinitis pigmentosa in a Chinese family

• Published in: Chinese medical journal Vol. 122; no. 9; pp. 1097 - 1101
• Main Authors: Dai, Li-li, Sun, Da-wei, Wang, Zheng, Fu, Song-bin, Huang, Shang-zhi, Zhang, Zhong-yu, Zeng, Guang, Peng, Shao-min
• Format: Journal Article
• Language: English
• Published: China Departments of Surgery and Ophthalmology and Visual Sciences, Yale University School of Medicine, New Haven, CT, USA 05.05.2009; Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150081, China%Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China%Genetic Laboratory, Harbin Medical University, Harbin, Heilongjiang 150081, China%Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150081, China
• Subjects: Asian Continental Ancestry Group - genetics; Chromosome Mapping; DNA Mutational Analysis; Exons - genetics; Eye Proteins - genetics; Female; Genotype; Humans; Male; Microsatellite Repeats - genetics; Pedigree; Polymerase Chain Reaction; Retinitis Pigmentosa - genetics; 基因定位; 基因突变位点; 常染色体显性遗传; 聚合酶链反应; 脂肪分化相关蛋白; 视网膜色素变性; 连锁分析; genetic linkage; Chinese; retinitis pigmentosa,autosomal dominant
• ISSN: 0366-6999; 2542-5641
• DOI: 10.3760/cma.j.issn.0366-6999.2009.09.016

Background The autosomal dominant form of retinitis pigmentosa （ADRP） can be caused by mutations in 14 genes and further loci remains to be identified. This study was intended to identify mutations in a Chinese pedigree with ADRP. Methods A large Chinese family with retinitis pigmentosa was collected. The genetic analysis of the family suggested an autosomal dominant pattern. Microsatellite （STR） markers tightly linked to genes known to be responsible for ADRP were selected for linkage analysis. Exons along with adjacent splice junctions of PRPF31 were amplified by polymerase chain reaction （PCR） and screened by direct sequencing. Results The caused gene of ADRP was mapped to 19q13.4 between markers D19S572 and D19S877, with a maximum LOD score of 3.01 at marker D19S418 （recombination fraction=0）. Conclusion The affected gene linked to the 19q13.4 in a Chinese family with ADRP, which is different from other mutations at the same loci in other Chinese families.