卵黄样黄斑变性（Best病）与11号染色体q13区域的遗传连锁

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.

作者信息

Stone E M, Nichols B E, Streb L M, Kimura A E, Sheffield V C

机构信息

Department of Ophthalmology, University of Iowa, College of Medicine, Iowa City 52242.

出版信息

Nat Genet. 1992 Jul;1(4):246-50. doi: 10.1038/ng0792-246.

DOI:10.1038/ng0792-246

PMID:1302019

Abstract

Macular degeneration is the most common cause of legal blindness in older patients in developed countries. Best's vitelliform dystrophy is an early-onset, autosomal dominant form of macular degeneration characterized by an egg-yolk-like collection of lipofuscin beneath the pigment epithelium of the retinal macula. Fifty-seven members of a five-generation family affected with this disease were studied. A combination of ophthalmoscopy and electro-oculography was used for diagnosis; 29 patients were found to be affected and 16 unaffected. Linkage analysis mapped the disease-causing gene to chromosome 11q13. Three markers in this region were found to be significantly linked (Zmax > 3.0) to the disease. Multipoint analysis yielded a maximum Lod score of 9.3 in the interval between markers INT2 and D11S871.

摘要

黄斑变性是发达国家老年患者法定失明的最常见原因。贝斯特卵黄样营养不良是一种早发性、常染色体显性黄斑变性，其特征是视网膜黄斑色素上皮下有脂褐素形成的蛋黄样聚积物。对一个患此病的五代家族的57名成员进行了研究。采用检眼镜检查和眼电图检查相结合的方法进行诊断；发现29名患者患病，16名未患病。连锁分析将致病基因定位到11号染色体q13区。发现该区域的三个标记与该病显著连锁（Zmax>3.0）。多点分析在标记INT2和D11S871之间的区间产生了最大Lod分数9.3。