Papaioannou Myrto, Chakarova Christina F, Prescott De Quincy C, Waseem Naushin, Theis Thorsten, Lopez Irma, Gill Bhavdip, Koenekoop Robert K, Bhattacharya Shomi S
Department of Molecular Genetics, Institute of Ophthalmology, UCL, 11-43 Bath Street, London, EC1V 9EL, UK.
Hum Genet. 2005 Dec;118(3-4):501-3. doi: 10.1007/s00439-005-0063-3. Epub 2005 Sep 28.
Retinitis pigmentosa (RP) is a debilitating disease of the retina affecting approximately 1.5 million people worldwide. RP shows remarkable heterogeneity both clinically and genetically, with more than 40 genetic loci implicated, 12 of which account for the autosomal dominant form (adRP) of inheritance. We have recently identified a French Canadian family that presents with early onset adRP. After exclusion of all known loci for adRP, a genome-wide search established firm linkage with a marker from the short arm of chromosome 9 (LOD score of 6.3 at recombination fraction theta=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13.
视网膜色素变性（RP）是一种使人衰弱的视网膜疾病，全球约有150万人受其影响。RP在临床和遗传方面都表现出显著的异质性，涉及40多个基因位点，其中12个基因位点与常染色体显性遗传形式（adRP）有关。我们最近发现了一个法裔加拿大家庭，该家庭患有早发性adRP。在排除所有已知的adRP基因位点后，全基因组搜索确定与9号染色体短臂上的一个标记紧密连锁（重组率theta = 0时，LOD得分为6.3）。连锁区域两侧是标记D9S285和D9S1874，对应于9p22 - p13区域内31厘摩的遗传距离。
