Hughes A E, Lotery A J, Silvestri G
Division of Molecular Medicine, The Queen's University of Belfast, UK.
J Med Genet. 1998 Sep;35(9):770-2. doi: 10.1136/jmg.35.9.770.
Central areolar choroidal dystrophy (CACD) is a retinal disease which causes progressive profound loss of vision in patients during middle age. The disease is inherited as an autosomal dominant trait and shows genetic heterogeneity. Mutations in the peripherin-RDS gene on chromosome 6 have been reported in affected members of families transmitting the disease. A new locus at chromosome 17p13 was identified recently by a genome wide linkage search in members of a large Northern Irish family. We now report the refinement of the critical region for this gene to an interval of approximately 5 cM flanked by polymorphic markers D17S1810 and CHLC GATA7B03.
中心性晕轮状脉络膜营养不良（CACD）是一种视网膜疾病，可导致中年患者视力逐渐严重丧失。该疾病以常染色体显性特征遗传，并表现出遗传异质性。在传播该疾病的家族中，已报道6号染色体上的外周蛋白-RDS基因发生突变。最近，通过对一个北爱尔兰大家庭成员进行全基因组连锁搜索，在17号染色体p13区域发现了一个新位点。我们现在报告，该基因关键区域已被精确定位到一个约5厘摩的区间，两侧为多态性标记D17S1810和CHLC GATA7B03。
