Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome
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韩国 Brugada 综合征患者心脏钠通道基因 SCN5A 的遗传分析
DOI：
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发表时间：
2004
影响因子：
3.5
通讯作者：
S. K. Yoon
中科院分区：
文献类型：
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作者：
Dong;Y. Jang;Hyun;Jong Eun Lee;Keumjin Yang;Eunmin Kim;Yoonjung Bae;Jong;J. Kim;Sung Soon Kim;Moon‐Hyoung Lee;M. Chahine;S. K. Yoon
SCN 5A基因编码人心脏电压门控钠通道的α亚基。SCN 5A中的突变导致Brugada综合征，这是一种遗传性心脏病，可导致特发性心室颤动（IVF）和猝死。在这项研究中，我们筛选了来自一个家庭的9名个体和12名临床诊断为Brugada综合征的散发患者。利用PCR-SSCP，DHPLC和DNA测序分析，我们确定了一个新的单错义突变与Brugada综合征的家庭和检测C5607 T多态性在韩国人。在第3934位的G到A的单核苷酸取代改变了SCN 5A的外显子21的结构域III（DIII-S2）的区段2中的甘氨酸到丝氨酸（G1262 S）的编码义。该家族中有4人携带相同的SCN 5A基因突变，但12名散发患者中没有一人携带。在150个无关的正常个体中未发现这种突变。这一发现是首次报道与韩国人Brugada综合征相关的SCN 5A新突变。
AbstractThe SCN5A gene encodes the alpha subunit of the human cardiac voltage-gated sodium channel. Mutations in SCN5A are responsible for Brugada syndrome, an inherited cardiac disease that leads to idiopathic ventricular fibrillation (IVF) and sudden death. In this study, we screened nine individuals from a single family and 12 sporadic patients who were clinically diagnosed with Brugada syndrome. Using PCR-SSCP, DHPLC, and DNA sequencing analysis, we identified a novel single missense mutation associated with Brugada syndrome in the family and detected a C5607T polymorphism in Korean subjects. A single nucleotide substitution of G to A at nucleotide position 3934 changed the coding sense of exon 21 of the SCN5A from glycine to serine (G1262S) in segment 2 of domain III (DIII-S2). Four individuals in the family carried the identical mutation in the SCN5A gene, but none of the 12 sporadic patients did. This mutation was not found in 150 unrelated normal individuals. This finding is the first report of a novel mutation in SCN5A associated with Brugada syndrome in Koreans.
DOI：
10.1073/pnas.89.2.554
发表时间：
1992-01-15
影响因子：
11.1
作者：
GELLENS, ME;GEORGE, AL;KALLEN, RG
通讯作者：
KALLEN, RG
用变性高效液相色谱法检测大量 Y 染色体双倍型多态性
影响因子：
7
作者：
Underhill, PA;Jin, L;Oefner, PJ
通讯作者：
Oefner, PJ