5-羟色胺7受体基因（HTR7）定位于染色体10q以及与抽动秽语综合征的遗传连锁排除。

Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with Tourette syndrome.

作者信息

Gelernter J, Rao P A, Pauls D L, Hamblin M W, Sibley D R, Kidd K K

机构信息

Department of Psychiatry, Yale University School of Medicine, West Haven, Connecticut, USA.

出版信息

Genomics. 1995 Mar 20;26(2):207-9. doi: 10.1016/0888-7543(95)80202-w.

DOI:10.1016/0888-7543(95)80202-w

PMID:7601444

Abstract

A novel serotonin receptor designated 5HT7 (genetic locus HTR7) was cloned in 1993. This receptor has interesting properties related to ligand affinity and CNS distribution that render HTR7 a very interesting candidate gene for neuropsychiatric disorders. We mapped this gene, first by physical methods and then by genetic linkage. First, we made a tentative assignment to chromosome 10, based on hybridization of an HTR7 probe to a Southern blot of DNA from somatic cell hybrids. We then identified a genetic polymorphism at the HTR7 locus. We identified one extended pedigree where the polymorphism segregated. Using the LIPED computer program for pairwise linkage analysis, we confirmed the assignment of the gene to chromosome 10, specifically 10q21-q24, based on a lod score of 5.37 at 0% recombination between HTR7 and D10S20 (a chromosome 10 reference marker). Finally, we excluded genetic linkage between this locus and Tourette syndrome under a reasonable set of assumptions.

摘要

一种名为5HT7（基因座HTR7）的新型血清素受体于1993年被克隆出来。该受体具有与配体亲和力和中枢神经系统分布相关的有趣特性，这使得HTR7成为神经精神疾病一个非常有吸引力的候选基因。我们首先通过物理方法，然后通过遗传连锁分析对该基因进行定位。首先，基于HTR7探针与体细胞杂种DNA的Southern印迹杂交，我们初步将其定位到10号染色体。然后，我们在HTR7基因座鉴定出一种遗传多态性。我们确定了一个该多态性发生分离的扩展家系。使用LIPED计算机程序进行成对连锁分析，基于HTR7与D10S20（一个10号染色体参考标记）之间0%重组时5.37的对数优势分数，我们确认该基因位于10号染色体，具体为10q21 - q24。最后，在一组合理的假设下，我们排除了该基因座与图雷特综合征之间的遗传连锁关系。