[Long QT syndrome gene diagnosis by haplotype analysis].
OBJECTIVE
Three long QT syndrome(LQTS) pedigrees were brought together for genetic diagnosis by using short tandem repeat(STR) markers.


METHODS
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.


RESULTS
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.


CONCLUSIONS
Linkage analysis using STR markers can serve as useful tool for presymptomatic diagnosis.
Lian
Jiang-fang
JF
Department of Cardiology, the First Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061 PR China.
Cui
Chang-cong
CC
Xue
Xiao-lin
XL
Huang
Chen
C
Cui
Han-bing
HB
Zhang
Hai-zhu
HZ
D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated; D015222:Sodium Channels / Q000235:genetics; D020080:Tandem Repeat Sequences
D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C568320:SCN5A protein, human; D015222:Sodium Channels