Relationship between congenital long QT syndrome and Brugada syndrome gene mutation / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
; (6): 289-294, 2005.
Article
ي Zh
| WPRIM
| ID: wpr-343720
المكتبة المسؤولة:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, and SCN5A mutation.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>New mutations were found in our experiment, which expand the spectrum of KCNQ1 and SCN5A mutations that cause LQTS and BS.</p>
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Pedigree
/
Long QT Syndrome
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Molecular Sequence Data
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Base Sequence
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Sodium Channels
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Jervell-Lange Nielsen Syndrome
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Romano-Ward Syndrome
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Potassium Channels, Voltage-Gated
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KCNQ1 Potassium Channel
/
Ether-A-Go-Go Potassium Channels
المحددات:
Adolescent
/
Adult
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Female
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Humans
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Male
اللغة:
Zh
مجلة:
Acta Academiae Medicinae Sinicae
السنة:
2005
نوع:
Article