颗粒状角膜营养不良I型（Groenouw I型，CDGG1）定位于5号染色体长臂。

Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q.

作者信息

Eiberg H, Møller H U, Berendt I, Mohr J

机构信息

University Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Copenhagen, Denmark.

出版信息

Eur J Hum Genet. 1994;2(2):132-8. doi: 10.1159/000472353.

DOI:10.1159/000472353

PMID:8044658

Abstract

Granular corneal dystrophy Groenouw type I (CDGG1) is an autosomal dominant disease with complete penetrance. 124 blood samples were collected from a single Danish pedigree of seven generations. Linkage was discovered with markers on chromosome 5q, with IL9 (Z = 15.96; theta M = 0.027, theta F = 0.00) and D5S436 (Z = 11.75; theta M = 0.00, theta F = 0.081) flanking the disease locus most closely. The marker IL9 is located in the region 5q22-q32. By multilocus linkage analysis the most likely position of CDGG1 among 9 markers was: D5S396-IL9-CDGG1-D5S436-D5S210/D5S207++ +-D5S434-D5S119-D5S211 and CDGG1-D5S402-D5S434. In each of two independent small pedigrees, in which a milder form of CDGG1 occurs, the disease gene was also linked to IL9 (Z = 3.02 at theta = 0.0 in males and females); i.e. the severe and the milder forms may be allelic.

摘要

颗粒状角膜营养不良格罗诺伊I型（CDGG1）是一种具有完全外显率的常染色体显性疾病。从一个丹麦七代单一家系中采集了124份血样。发现与5号染色体q臂上的标记连锁，其中IL9（Z = 15.96；男性重组率θM = 0.027，女性重组率θF = 0.00）和D5S436（Z = 11.75；男性重组率θM = 0.00，女性重组率θF = 0.081）最紧密地位于疾病位点两侧。标记IL9位于5q22 - q32区域。通过多位点连锁分析，CDGG1在9个标记中最可能的位置是：D5S396 - IL9 - CDGG1 - D5S436 - D5S210/D5S207++ + - D5S434 - D5S119 - D5S211以及CDGG1 - D5S402 - D5S434。在两个独立的小家系中，均出现了症状较轻的CDGG1，疾病基因也与IL9连锁（男性和女性在重组率θ = 0.0时Z = 3.02）；即严重型和较轻型可能是等位基因。