Transmission disequilibrium analysis of 1137-1140 Del GTGA frameshift mutation within the KCNN3 gene and schizophrenia based on family trios.
- Author:
Xiao-hong HONG
1
;
Chong-tao XU
;
Quan YANG
;
Cai-ru WU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Child; Family Health; Female; Frameshift Mutation; Genetic Predisposition to Disease; genetics; Haplotypes; genetics; Humans; Linkage Disequilibrium; genetics; Male; Middle Aged; Nuclear Family; Schizophrenia; genetics; Small-Conductance Calcium-Activated Potassium Channels; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2005;22(4):441-443
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the relationship between 1137-1140 Del GTGA in exon 1 at KCNN3 gene and schizophrenia.
METHODSThe study included 289 subjects (affected 107; unaffected 182) from 95 schizophrenic trios. All subjects were collected from Han Chinese in south China and genotyped for 1137-1140 Del GTGA in KCNN3 using PCR and restriction endonuclease Dde I. All the affected patients met the CCMD-II-R criteria for schizophrenia. The haplotype-based haplotype relative risk(HHRR) and transmission/disequilibrium test(TDT) analyses were done in 95 schizophrenic trios.
RESULTSComparative analysis on the distribution of alleles between the affected and unaffected parents(87 family trios) showed no significant difference(X(2)=0.253, P> 0.05). HHRR showed that KCNN3 gene alleles transmitted to the patients were not different from that of the non-transmitted parental alleles(X(2)=0.042, P> 0.05). TDT revealed that A(2) alleles were not preferentially transmitted to schizophrenic patients(X(2)=3.000, P=0.0833).
CONCLUSIONIn this study a lower frequency for 1137-1140 Del homozygote of KCNN3 gene was observed, and the HHRR and TDT analyses suggested that the 1137-1140 Del alleles of KCNN3 gene be unlikely to confer susceptibility to schizophrenia.
