Referenced in: none

Automatically associated channels: Kv11.1 , Kv7.1 , Nav1.5

Title: [Long QT syndrome gene diagnosis by haplotype analysis]

Authors: Jiang-fang Lian, Chang-cong Cui, Xiao-lin Xue, Chen Huang, Han-bing Cui, Hai-zhu Zhang

Journal, date & volume: Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2004 Jun , 21, 272-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/15192835

Abstract
Three long QT syndrome(LQTS) pedigrees were brought together for genetic diagnosis by using short tandem repeat(STR) markers.Genomic 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.Clinical 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.Linkage analysis using STR markers can serve as useful tool for presymptomatic diagnosis.