Transmission disequilibrium analysis of 1137-1140 Del GTGA frameshift mutation within the KCNN3 gene and schizophrenia based on family trios / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 441-443, 2005.
Article
em Zh
| WPRIM
| ID: wpr-280031
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WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the relationship between 1137-1140 Del GTGA in exon 1 at KCNN3 gene and schizophrenia.</p><p><b>METHODS</b>The 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.</p><p><b>RESULTS</b>Comparative 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).</p><p><b>CONCLUSION</b>In 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.</p>
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Índice:
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Assunto principal:
Esquizofrenia
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Haplótipos
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Núcleo Familiar
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Desequilíbrio de Ligação
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Saúde da Família
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Mutação da Fase de Leitura
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Predisposição Genética para Doença
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Canais de Potássio Ativados por Cálcio de Condutância Baixa
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Genética
Tipo de estudo:
Etiology_studies
Limite:
Adolescent
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Adult
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Aged
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Child
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2005
Tipo de documento:
Article