[搜索患有精神疾病和神经疾病的人类大脑中表达的DNA序列中CAG重复序列的扩增情况]

[Search for expansion of CAG-repeats in DNA sequences expressed in the brain of humans with psychiatric and neurological diseases].

作者信息

Ovchinnikov I V, Braga E A, Aksenova M G, Druzina E B, Ovchinnikova O I, Illarioshkin S N, Kaleda V G, Markova E D, Ivanova-Smolenskaia I A

出版信息

Vopr Med Khim. 1996 Oct-Dec;42(4):333-7.

PMID:9254522

Abstract

Dynamic mutations due to trinucleotide repeat expansion are a new class of human genome mutations. CAG repeat expansion in the coding region of associated genes is the molecular genetic basis of the several diseases of nervous system. Eight DNA sequences with CAG repeats expressed in human brain were chosen from the GenBank database. The search of CAG expansion was carried out for patients with schizophrenia (brain and blood) and essential tremor. CAG repeat expansion has not been found for the loci. The distribution of allelic sizes is similar in the patients and control samples. Locus HS0073 has shown the polymorphism of the length for CAG repeat alleles. Statistically reliable excess of the homozygotes has been found for schizophrenic patients.

摘要

由于三核苷酸重复序列扩增导致的动态突变是一类新的人类基因组突变。相关基因编码区的CAG重复序列扩增是几种神经系统疾病的分子遗传基础。从GenBank数据库中选取了8个在人类大脑中表达的含有CAG重复序列的DNA序列。对精神分裂症患者（大脑和血液）和特发性震颤患者进行了CAG扩增检测。未发现这些位点存在CAG重复序列扩增。患者样本和对照样本中等位基因大小的分布相似。位点HS0073显示出CAG重复等位基因长度的多态性。在精神分裂症患者中发现了统计学上可靠的纯合子过量现象。