Long QT syndrome gene diagnosis by haplotype analysis.
- Author:
Jiang-fang LIAN
1
;
Chang-cong CUI
;
Xiao-lin XUE
;
Chen HUANG
;
Han-bing CUI
;
Hai-zhu ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: ERG1 Potassium Channel; Ether-A-Go-Go Potassium Channels; Female; Genetic Linkage; Haplotypes; Humans; Long QT Syndrome; genetics; Male; NAV1.5 Voltage-Gated Sodium Channel; Pedigree; Potassium Channels; genetics; Potassium Channels, Voltage-Gated; Sodium Channels; genetics; Tandem Repeat Sequences
- From: Chinese Journal of Medical Genetics 2004;21(3):272-273
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEThree long QT syndrome(LQTS) pedigrees were brought together for genetic diagnosis by using short tandem repeat(STR) markers.
METHODSGenomic DNA was extracted from blood samples. STR markers (D7S1824, D7S2439, D7S483, D3S1298, D3S1767, D3S3521) in or spanning the HERG and SCN5A gene were amplified; the haplotype analysis for LQTS was performed.
RESULTSClinical diagnosis showed that 15 are LQTS patients (3 died) and 11 are probable patients. Linkage analysis showed that LQTS patients are linked with the SCN5A gene in family 1, HERG is linked with the disease in family 2 and 3. Fourteen gene carriers were identified, 2 patients and 7 probable patients were excluded.
CONCLUSIONLinkage analysis using STR markers can serve as useful tool for presymptomatic diagnosis.
