Keen T Jeffrey, Mohamed Moin D, McKibbin Martin, Rashid Yasmin, Jafri Hussain, Maumenee Irene H, Inglehearn Chris F
Molecular Medicine Unit, University of Leeds, Leeds, UK.
Eur J Hum Genet. 2003 May;11(5):420-3. doi: 10.1038/sj.ejhg.5200981.
Leber's congenital amaurosis (LCA) is the most common cause of inherited childhood blindness and is characterised by severe retinal degeneration at or shortly after birth. We have identified a new locus, LCA9, on chromosome 1p36, at which the disease segregates in a single consanguineous Pakistani family. Following a whole genome linkage search, an autozygous region of 10 cM was identified between the markers D1S1612 and D1S228. Multipoint linkage analysis generated a lod score of 4.4, strongly supporting linkage to this region. The critical disease interval contains at least 5.7 Mb of DNA and around 50 distinct genes. One of these, retinoid binding protein 7 (RBP7), was screened for mutations in the family, but none was found.
莱伯先天性黑蒙（LCA）是儿童遗传性失明最常见的病因，其特征是在出生时或出生后不久出现严重的视网膜变性。我们在1号染色体1p36上鉴定出一个新的基因座LCA9，在一个巴基斯坦近亲家庭中，该疾病在这个基因座上呈分离状态。经过全基因组连锁搜索，在标记D1S1612和D1S228之间鉴定出一个10厘摩的纯合区域。多点连锁分析产生了4.4的对数优势分数，有力地支持了与该区域的连锁关系。关键疾病区间包含至少5.7兆碱基的DNA和约50个不同的基因。其中一个基因，视黄醇结合蛋白7（RBP7），在该家族中进行了突变筛查，但未发现任何突变。
