中文摘要：

背景视网膜炎 pigmentosa (ADRP ) 的正染色体的主导的形式能被变化在 14 基因和进一步的 loci 遗体引起被鉴别。这研究被打算与 ADRP 在一个中国家谱识别变化。有视网膜炎 pigmentosa 的一个大中国家庭被收集的方法。家庭的基因分析建议了一个正染色体的主导的模式。紧连接到知道为 ADRP 负责的基因的 Microsatellite (STR ) 标记为连接分析被选择。 Exons 与一起邻近拼接 PRPF31 的连接被聚合酶链反应( PCR )放大并且由直接 sequencing.Results 屏蔽了 ADRP 的引起的基因被印射到在标记 D19S572 和 D19S877 之间的 19q13.4 ，与在标记 D19S418 (再结合 fraction=0 )的 3.01 的一个最大的 LOD 分数影响基因与 ADRP 在一个中国家庭连接了到 19q13.4 的 .Conclusion ，它与在在另外的中国家庭的一样的 loci 的另外的变化不同。

英文摘要：

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.