Mutation analysis of a Chinese family with inherited long QT syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 68-70, 2005.
Article
ي Zh
| WPRIM
| ID: wpr-321157
المكتبة المسؤولة:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).</p><p><b>METHODS</b>The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation.</p><p><b>RESULTS</b>A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.</p><p><b>CONCLUSION</b>The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.</p>
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Pedigree
/
Long QT Syndrome
/
DNA Mutational Analysis
/
China
/
Polymerase Chain Reaction
/
Family Health
/
Genetic Predisposition to Disease
/
Mutation, Missense
/
Diagnosis
/
KCNQ1 Potassium Channel
نوع الدراسة:
Diagnostic_studies
المحددات:
Female
/
Humans
/
Male
البلد/الأقليم حسب الموضوع:
Asia
اللغة:
Zh
مجلة:
Chinese Journal of Medical Genetics
السنة:
2005
نوع:
Article