Lotery A J, Ennis K T, Silvestri G, Nicholl S, McGibbon D, Collins A D, Hughes A E
Department of Medical Genetics, Queen's University of Belfast, Northern Ireland, UK.
Hum Mol Genet. 1996 May;5(5):705-8. doi: 10.1093/hmg/5.5.705.
Central areolar choroidal dystrophy (CACD) is a rare inherited retinal disease which causes progressive profound loss of vision in patients during their 4th decade. We have identified a Northern Irish family with 19 affected individuals in three living generations. We have performed a total genome search and established linkage of CACD in this family to chromosome 17p (multipoint Zmax = 5.65 at D17S938). The genes for phosphatidylinositol transfer protein (PITPN), retinal guanylate cyclase (GUC2D), beta-arrestin 2 (ARRB2), pigment epithelium-derived factor (PEDF) and recoverin (RCV1) map to this region and are candidate genes for retinal disease. Analysis of the coding region of the PITPN gene failed to reveal any mutation in this family.
中心性晕轮状脉络膜营养不良（CACD）是一种罕见的遗传性视网膜疾病，会导致患者在40岁左右逐渐出现严重的视力丧失。我们发现了一个北爱尔兰家族，三代在世成员中有19人患病。我们进行了全基因组搜索，并确定该家族中CACD与17号染色体短臂连锁（在D17S938处多点Zmax = 5.65）。磷脂酰肌醇转移蛋白（PITPN）、视网膜鸟苷酸环化酶（GUC2D）、β-抑制蛋白2（ARRB2）、色素上皮衍生因子（PEDF）和恢复蛋白（RCV1）的基因定位于该区域，是视网膜疾病的候选基因。对PITPN基因编码区的分析未能在该家族中发现任何突变。
