将常染色体显性遗传的螺旋状视乳头周围脉络膜视网膜变性——斑秃定位到11号染色体短臂15区。

Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15.

作者信息

Fossdal R, Magnússon L, Weber J L, Jensson O

机构信息

Department of Medical Genetics, Blood Bank, Reykjavik, Iceland.

出版信息

Hum Mol Genet. 1995 Mar;4(3):479-83. doi: 10.1093/hmg/4.3.479.

DOI:10.1093/hmg/4.3.479

PMID:7795606

Abstract

Atrophia areata (AA) is an early onset autosomal dominant helicoid peripapillary chorioretinal degeneration, which was first demonstrated to be hereditary in an Icelandic family. It is characterized by bilateral wing-shaped atrophic areas of the retina, radiating from the optic disk. Primary complaints of affected individuals are due to refractive errors and scotomata associated with myopia which increases with age. A genome linkage search with 112 microsatellite DNA markers resulted in the highest probability of location for AA on chromosome 11. We genotyped 18 polymorphic markers on chromosome 11 and seven showed significant linkage to AA. The markers D11S1323 and D11S902 on 11p15 flank the region encompassing the gene for AA.

摘要

斑秃性萎缩（AA）是一种早发性常染色体显性螺旋状视乳头周围脉络膜视网膜变性，最早在一个冰岛家族中被证实具有遗传性。其特征是视网膜出现从视盘放射状分布的双侧翼状萎缩区域。受影响个体的主要症状是由于屈光不正和与近视相关的暗点，且近视程度随年龄增加。一项使用112个微卫星DNA标记进行的基因组连锁搜索，得出AA基因最有可能位于11号染色体上。我们对11号染色体上的18个多态性标记进行了基因分型，其中7个显示与AA有显著连锁。11p15上的标记D11S1323和D11S902位于包含AA基因的区域两侧。