颗粒状角膜营养不良I型（Groenouw型）基因座与35个多态系统的连锁关系。

Linkage relations of the locus for granular corneal dystrophy Groenouw type I with 35 polymorphic systems.

作者信息

Møller H U, Eiberg H, Kruse T A

机构信息

Department of Ophthalmology, Aarhus University Hospital, Copenhagen.

出版信息

Acta Ophthalmol (Copenh). 1989 Dec;67(6):721-3. doi: 10.1111/j.1755-3768.1989.tb04410.x.

DOI:10.1111/j.1755-3768.1989.tb04410.x

PMID:2618643

Abstract

The paper presents preliminary results of linkage relations of the locus for granular corneal dystrophy Groenouw type I employing 35 classic genetic markers. Blood and saliva from 124 members of one family with this disorder were examined with the aim of localizing the disease to a certain chromosome. The highest lodscore was 1.04 in females at theta 0.00 to the system C1R, thus supplying a clue for continued gene-mapping investigations on the short arm of chromosome No. 12.

摘要

本文展示了使用35个经典遗传标记对I型格罗诺角膜营养不良位点连锁关系的初步研究结果。为了将该疾病定位于某条染色体，对一个患有这种疾病的家族的124名成员的血液和唾液进行了检测。在θ为0.00时，女性中与C1R系统相关的最高连锁对数分数为1.04，从而为在12号染色体短臂上继续进行基因定位研究提供了线索。