Du Rong, Ren Fa-xin, Yang Jun-guo, Yuan Guo-hui, Zhang Shou-yan, Kang Cai-lian, Li Wei, Gui Le, Li Jing
Institute of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2005 Jun;27(3):289-94.
To investigate the molecular pathology in families with long QT syndrome (LQTS) including Jervell-Longe-Nielsen syndrome (JLNS) and Romano-ward syndrome (RWS) and Brugada syndrome (BS) in Chinese population.
Polymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, and SCN5A mutation.
We identified a novel mutation N1774S in the SCN5A gene of the BS family, a novel mutation G314S in a RWS family which had also been found in Europe, North America, and Japan, and a single nucleotide polymorphisms (SNPs) G643S in the KCNQ1 of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in KCNQ1 of the patients.
New mutations were found in our experiment, which expand the spectrum of KCNQ1 and SCN5A mutations that cause LQTS and BS.
研究中国人群中包括杰韦尔-朗格-尼尔森综合征（JLNS）、罗曼诺-沃德综合征（RWS）和 Brugada 综合征（BS）在内的长 QT 综合征（LQTS）家系的分子病理学。
采用聚合酶链反应和 DNA 测序筛选 KCNQ1、KCNH2、KCNE1 和 SCN5A 突变。
我们在 BS 家系的 SCN5A 基因中鉴定出一个新突变 N1774S，在一个 RWS 家系中鉴定出一个新突变 G314S，该突变在欧洲、北美和日本也有发现，在 JLNS 家系的 KCNQ1 中鉴定出一个单核苷酸多态性（SNP）G643S。在这个 JLNS 家系中，患者的 KCNQ1 外显子 2a 中还发现了另一个杂合新突变。
我们的实验发现了新的突变，这些突变扩展了导致 LQTS 和 BS 的 KCNQ1 和 SCN5A 突变谱。
