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人类多巴胺转运体基因中的可变数目串联重复序列多态性:改进的检测方法及可变数目串联重复序列等位基因与注意力缺陷多动障碍无关联

The VNTR polymorphism in the human dopamine transporter gene: improved detection and absence of association of VNTR alleles with attention-deficit hyperactivity disorder.

作者信息

Simsek Mehmet, Al-Sharbati Marwan, Al-Adawi Samir, Lawatia Kholuud

机构信息

Department of Biochemistry, College of Medicine, Sultanate of Oman.

出版信息

Genet Test. 2006 Spring;10(1):31-4. doi: 10.1089/gte.2006.10.31.

DOI:10.1089/gte.2006.10.31
PMID:16545000
Abstract

The human dopamine transporter (DAT1) gene contains a variable number tandem repeat (VNTR) in its 3'-untranslated region because of repetition of a 40-bp core sequence. Methods available for the diagnosis of this polymorphism are limited in number. We have developed a new polymerase chain reaction (PCR) test, which is similar to that described originally by Vandenbergh's group, but provides a better detection of the VNTR alleles in the human DAT1 gene. Using two independent PCR methods, we have determined the distribution of VNTR alleles in 110 healthy Omani subjects, and in 92 children with attention-deficit hyperactivity disorder (ADHD). The frequency of the risk allele (DAT1*10) was similar in the healthy subjects and ADHD cases, indicating absence of association of this allele with ADHD in Oman.

摘要

人类多巴胺转运体(DAT1)基因在其3'非翻译区含有一个可变数目串联重复序列(VNTR),这是由于一个40碱基对的核心序列重复所致。可用于诊断这种多态性的方法数量有限。我们开发了一种新的聚合酶链反应(PCR)检测方法,它与范登伯格小组最初描述的方法类似,但能更好地检测人类DAT1基因中的VNTR等位基因。我们使用两种独立的PCR方法,确定了110名健康阿曼受试者和92名患有注意力缺陷多动障碍(ADHD)儿童中VNTR等位基因的分布。风险等位基因(DAT1*10)在健康受试者和ADHD病例中的频率相似,这表明在阿曼该等位基因与ADHD不存在关联。

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