南方医科大学学报2006，Vol.26Issue(7)：901-903,909,4.
QT间期延长综合征病人ankyrin-B基因突变的解析
Analysis of ankyrin-B gene mutations in patients with long QT syndrome
周翔 1舜田英一 2加藤大雅 2舟田晃 2马渊宏 2清水贤巳 2今野哲雄 2井野秀一 2藤野阳 2内山胜晴 2马渊智仁 2金田朋也 2藤田崇志2
作者信息
- 1. 南方医科大学病理生理学教研室,广东,广州,510515
- 2. 金泽大学医学部附属医院心内科,金泽,石川,920-8640,日本
- 折叠
摘要
Abstract
Objectives To identify the ankyrin-B gene mutations that cause long QT syndrome (LQTS) and determine the prevalence of such mutations in Japanese patients with LQTS. Methods We conducted a search for ankyrin-B gene mutation in 78 unrelated patients with LQTS (28 males and 50 females, aged 2 to 89 years). With informed consent from all the subjects and/or their parents, genomic DNA was purified from the white blood cells of the patients and amplified using polymerase chain reaction (PCR). Single-strand conformational polymorphism (SSCP) analysis of the amplified DNA was performed to screen for mutations and aberrant SSCP products were isolated and sequenced by dye terminator cycle sequencing method using an automated fluorescent sequencer. PCR and restriction fragment length polymorphism (PCR-RFLP) analysis was carried out to further confirm the missense mutations by comparison with samples from 150 normal healthy individuals.Results We identified a T to A transition mutation at position 4 603 in exon 40, resulting in the substitution of arginine for a tryptophan at amino acid residue 1 535 (W1535R) in the regulatory domain of 220-kD ankyrin-B, which is a highly conserved domain shared by different species. Conclusions This novel missense mutation in the ankyrin-B gene may bea cause of type 4LQTS. Ankyrin-B gene mutation might not play the major role in LQTS in Japanese.关键词
误义突变/QT间期延长综合征/ankyrin-B基因Key words
missense mutation/long QT syndrome/ankyrin-B gene分类
医药卫生引用本文复制引用
周翔,舜田英一,加藤大雅,舟田晃,马渊宏,清水贤巳,今野哲雄,井野秀一,藤野阳,内山胜晴,马渊智仁,金田朋也,藤田崇志..QT间期延长综合征病人ankyrin-B基因突变的解析[J].南方医科大学学报,2006,26(7):901-903,909,4.
