通过DNA分析对奈特尔斯希普-福尔斯型X连锁眼部白化病进行携带者检测。

Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.

作者信息

Bergen A A, Schuurman E J, van den Born L I, Samanns C, van Dorp D B, Pinckers A J, Bakker E, van Ommen G J, Gal A, Bleeker-Wagemakers E M

机构信息

The Netherlands Ophthalmic Research Institute, Amsterdam.

出版信息

Clin Genet. 1992 Mar;41(3):135-8. doi: 10.1111/j.1399-0004.1992.tb03649.x.

DOI:10.1111/j.1399-0004.1992.tb03649.x

PMID:1348665

Abstract

X-linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship-Falls type (OA1) has been mapped to Xp22.3, and several closely linked RFLP loci have been identified. Linkage analysis and deletion mapping have established the marker gene order Xpter-STS-DX237-(OA1,DXS143,DXS85)-DXS1 6-DXS43-Xcen. Although the position of OA1 has yet not been fully resolved, we report on the first carrier detections in OXA of the Nettleship-Falls type by DNA analysis using markers which unquestionably flank OA1.

摘要

X连锁性眼白化病（XOA）的特征是眼睛异常，以及由于影响色素细胞的遗传性先天性代谢缺陷导致皮肤、头发和眼睛色素减退或无色素。奈特利希普-福尔斯型（OA1）XOA的基因已被定位到Xp22.3，并且已经鉴定出几个紧密连锁的限制性片段长度多态性（RFLP）位点。连锁分析和缺失图谱分析确定了标记基因顺序为Xpter-STS-DX237-（OA1，DXS143，DXS85）-DXS16-DXS43-Xcen。尽管OA1的位置尚未完全确定，但我们报告了首次通过使用无疑位于OA1两侧的标记进行DNA分析，在奈特利希普-福尔斯型眼白化病中检测携带者的情况。