血清素5-HT(7)受体基因（HTR7）在10号染色体上的物理定位以及假基因（HTR7P）在12号染色体上的物理定位，以及HTR7与自闭症谱系障碍之间的连锁不平衡测试。

Physical mapping of the serotonin 5-HT(7) receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage disequilibrium between HTR7 and autistic disorder.

作者信息

Lassig J P, Vachirasomtoon K, Hartzell K, Leventhal M, Courchesne E, Courchesne R, Lord C, Leventhal B L, Cook E H

机构信息

Child and Adolescent Psychiatry, Department of Psychiatry, University of Chicago, Chicago, Illinois, USA.

出版信息

Am J Med Genet. 1999 Oct 15;88(5):472-5. doi: 10.1002/(sici)1096-8628(19991015)88:5<472::aid-ajmg7>3.0.co;2-g.

DOI:10.1002/(sici)1096-8628(19991015)88:5<472::aid-ajmg7>3.0.co;2-g

PMID:10490701

Abstract

The gene encoding the serotonin 5-HT(7) receptor (HTR7) has been considered as a candidate locus in several neuropsychiatric disorders, based on pharmacological evidence and ligand-binding studies. After determining over 3 kb of previously unpublished sequence from introns 1 and 2 of HTR7, a single base (C/T) polymorphism in the second intron of HTR7 was found. Allele-specific PCR was used to genotype the HTR7 marker in 53 trios consisting of subjects with autistic disorder and both parents. Using the transmission disequilibrium test (TDT), no evidence of preferential transmission of either allele was found (TDT chi(2) = 0.252, p = 0.602). Sequence data obtained from both intron 1 and intron 2 of HTR7, and from the 5-HT(7) pseudogene (HTR7P), was used to confirm localization of HTR7 to 10q23 and HTR7P to 12p13 using radiation hybrid analyses.

摘要

基于药理学证据和配体结合研究，编码血清素5 - HT(7)受体（HTR7）的基因已被视为几种神经精神疾病的候选基因座。在确定了来自HTR7内含子1和2的超过3 kb的先前未发表序列后，发现HTR7第二个内含子中有一个单碱基（C/T）多态性。采用等位基因特异性PCR对53个由自闭症谱系障碍患者及其父母组成的三联体中的HTR7标记进行基因分型。使用传递不平衡检验（TDT），未发现任一等位基因存在优先传递的证据（TDT卡方值= 0.252，p = 0.602）。从HTR7的内含子1和内含子2以及5 - HT(7)假基因（HTR7P）获得的序列数据，用于通过辐射杂交分析确认HTR7定位于10q23，HTR7P定位于12p13。