Analysis of childhood absence epilepsy using haplotype-based haplotype relative risk and transmission disequilibrium test.
The authors performed haplotype-based haplotype relative risk (HHRR) and transmission disequilibrium test (TDT) analysis of childhood absence epilepsy in 30 trios families, using gene typing technology based on microsatellite polymorphic marker. The five microsatellite DNA markers (D8S554, D8S1753, D8S534, D8S1100, D8S1783) used in the study are on chromosome 8q24. HHRR shows D8S554(4) (chi2 = 5.939, P < 0.05), D8S1100(3) (chi2 = 5.081, P < 0.05), D8S1783(6) (chi2 = 4.308, P < 0.05), TDT shows D8S554(4) (chi2 = 4.455, P < 0.05), D8S1783(6) (chi2 = 4, P < 0.05), some signs of association and disequilibrium between these loci and CAE. A suspected association of childhood absence epilepsy in the Chinese population to chromosome 8q24 has been proposed. In addition, it is hypothesized that the CAE gene might have a genetic heterogeneity in the population from a different race.
Department of Pediatrics, Shanghai Xinhua Hospital, 1665 Kongjiang Road, Shanghai, PR China. wangzhp@online.sh.cn
Wang
W
Zhiping
Ge
G
Xin
Liu
L
Xiaoqing
Zhang
Z
Yafen
D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D018562:Disease Transmission, Infectious; D004832:Epilepsy, Absence / Q000208:ethnology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D012307:Risk Factors