Analysis of childhood absence epilepsy using haplotype-based haplotype relative risk and transmission disequilibrium test.

摘要

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) ( [Formula: see text], [Formula: see text] ), D8S1100(3) ( [Formula: see text], [Formula: see text] ), D8S1783(6) ( [Formula: see text] ), TDT shows D8S554(4) ( [Formula: see text], [Formula: see text] ), D8S1783(6) ( [Formula: see text], [Formula: see text] ), 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.