Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan J K, Fernandez S T, John S, Weber J L, Denton M J, Gal A
Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
Genomics. 1998 Mar 15;48(3):341-5. doi: 10.1006/geno.1997.5194.
Autosomal recessive retinitis pigmentosa (arRP) is a genetically and clinically heterogeneous and progressive degenerative disorder of the retina, leading usually to severe visual handicap in adulthood. To date, disease loci/genes have been mapped/identified only in a minority of cases. DNA samples were collected from 20 large consanguineous Indian families, in which arRP segregated and that were suitable for homozygosity mapping of the disease locus. After excluding linkage to all known arRP loci, a genome-wide scan was initiated. In two families, homozygosity mapping, haplotype analysis, and linkage data mapped the disease locus (RP22) in an approximately 16-cM region between D16S287 and D16S420 on the proximal short arm of chromosome 16. No mutation has been found by direct sequencing in the gene (CRYM) encoding micron crystallin, which maps in the critical region.
常染色体隐性遗传性视网膜色素变性（arRP）是一种在遗传和临床方面具有异质性的进行性视网膜退行性疾病，通常会导致成年后严重视力障碍。迄今为止，仅在少数病例中定位/鉴定出了疾病位点/基因。从20个大型近亲印度家庭收集了DNA样本，这些家庭中arRP呈分离状态，适合对疾病位点进行纯合性定位。在排除与所有已知arRP位点的连锁关系后，启动了全基因组扫描。在两个家庭中，通过纯合性定位、单倍型分析和连锁数据，将疾病位点（RP22）定位在16号染色体短臂近端D16S287和D16S420之间约16厘摩的区域。在位于关键区域的编码微小晶状体蛋白的基因（CRYM）中，直接测序未发现突变。
