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通过对荷兰家族的连锁研究,将发育异常痣综合征(DNS)基因座排除在1号染色体短臂之外。

Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families.

作者信息

van Haeringen A, Bergman W, Nelen M R, van der Kooij-Meijs E, Hendrikse I, Wijnen J T, Khan P M, Klasen E C, Frants R R

机构信息

Department of Human Genetics, State University, Leiden, The Netherlands.

出版信息

Genomics. 1989 Jul;5(1):61-4. doi: 10.1016/0888-7543(89)90086-4.

Abstract

Familial dysplastic nevus syndrome (DNS) is an autosomal dominant premalignant condition characterized by multiple large moles of variable size and color and a strongly increased risk for cutaneous malignant melanoma. In order to determine the chromosomal localization of the DNS gene, linkage studies were initiated in six large Dutch families. No support was obtained for linkage between the loci for DNS and the rhesus blood group on chromosome 1. Data from additional markers (DNF15S1, D1Z2, FUCA1, D1S17, D1S57, and PGM1) make it possible to exclude the DNS gene from the short arm of chromosome 1 in these Dutch families.

摘要

家族性发育异常痣综合征(DNS)是一种常染色体显性癌前病变,其特征为有多个大小和颜色各异的大痣,以及皮肤恶性黑色素瘤风险显著增加。为了确定DNS基因的染色体定位,对六个荷兰大家庭开展了连锁研究。未获得DNS基因座与1号染色体上恒河猴血型之间存在连锁关系的证据。来自其他标记(DNF15S1、D1Z2、FUCA1、D1S17、D1S57和PGM1)的数据使得在这些荷兰家庭中排除1号染色体短臂上的DNS基因成为可能。

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