Abstract：
OBJECTIVE:To determine mutations of two common potassium channel subunit genes KCNQ1, KCNH2 causing long QT syndrome (LQTS) in the Chinese. METHODS:Thirty-one Chinese LQTS pedigrees were characterized for mutations in the two LQTS genes, KCNQ1 and KCNH2, by sequencing. RESULTS:Two novel KCNQ1 mutations, S277L in the S5 domain and G306V in the channel pore, and two novel KCNH2 mutations, L413P in the transmembrane domain S1 and L559H in the transmembrane domain S5 were identified. The triggering factors for cardiac events developed in these mutation carriers included physical exercise and excitation. Mutation L413P in KCNH2 was associated with the notched T wave on ECGs. Mutation L559H in KCNH2 was associated with the typical bifid T wave on ECGs. Mutation S277L in KCNQ1 was associated with a high-amplitude T wave and G306V was associated with a low-amplitude T wave. Two likely polymorphisms, IVS11 + 18C > T in KCNQ1 and L520V in KCNH2 were also identified in two LQTS patients. CONCLUSIONS:The mutation rates for both KCNQ1 (6.4%) and KCNH2 (6.4%) are lower in the Chinese population than those from North America or Europe.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Liu W,Hu D,Li C,Li P,Li Y,Li Z,Li L,Qin X,Dong W,Qi Y,Chen S,Wang Qkeywords:
subject
Has Abstractpub_date
2003-09-01 00:00:00pages
1333-5issue
9eissn
0366-6999issn
2542-5641journal_volume
116pub_type
杂志文章abstract：BACKGROUND:Preeclampsia (PE) is a multifactorial pregnancy complication. Maternal underlying condition and adverse factors both influence the pathogenesis of PE. Abnormal lipid metabolism as a maternal underlying disease may participate in the occurrence and development of PE. This study aimed to observe the effects of...
journal_title：Chinese medical journal
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pub_type： 杂志文章,随机对照试验
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pub_type： 杂志文章,已发布勘误
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journal_title：Chinese medical journal
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doi：
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更新日期：2011-10-01 00:00:00
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更新日期：2013-08-01 00:00:00
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pub_type： 杂志文章,meta分析
doi：
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doi：
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pub_type： 杂志文章,随机对照试验
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更新日期：2017-05-20 00:00:00
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journal_title：Chinese medical journal
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更新日期：2014-01-01 00:00:00
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pub_type： 杂志文章,多中心研究,随机对照试验
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更新日期：2012-11-01 00:00:00
