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- W2353036764 abstract "Objective Long QT syndrome(LQTS) is a monogenic disorder that produces cardiac arrhythmias and can lead to sudden death.6 LQTS pedigree with 43 family members were used together for genetic diagnosis.Methods Genetic studies were performed by using short-sequence tandem-repeat(STR) markers or sequencing.Genomic DNA was extracted from blood samples by standard procedure.STR markers(D7S1824,D7S2439,D7S483,D3S1298,D3S1767,D3S3521) in or spanning the KCNH2 and SCN5A were amplified,the haplotype analysis for LQTS was performed.If the family were the negative in haplotype analysis,the sequencing was performed.Results LQTS patients were always linkaged with the SCN5A gene in family 1,KCNH2 was linkage with the disease in family 2 to 5.21 gene carriers were identified from these 5 families.A mutation(A561V) in No.7 exon of KCNH2 gene was only found in the proband of family 6 and a SNP(G1691A) was found in all members of the family.Conclusions Genetic diagnosis not only improve presymptomatic diagnosis,but also provide the base for different drug for different gene carriers.[Chinese Journal of Cardiac Pacing and Electrophysiology,2006,20(1):18~ 20]" @default.
- W2353036764 created "2016-06-24" @default.
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- W2353036764 date "2006-01-01" @default.
- W2353036764 modified "2023-09-22" @default.
- W2353036764 title "Long QT syndrome diagnosed by genetic analysis in six pedigress" @default.
- W2353036764 hasPublicationYear "2006" @default.
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