Mutation and expression of WNT8b gene and SHH gene in Hirschsprung disease / 中华胃肠外科杂志
Chinese Journal of Gastrointestinal Surgery
;
(12): 758-761, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-266275
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the relationship of WNT8b and SHH genes mutation and Hirschsprung disease(HSCR) in Chinese children.</p><p><b>METHODS</b>Preoperative whole blood preparations in 72 children with sporadic HSCR from northeast China were collected(study group). Seventy-two healthy children were used as controls(matched for sex and age). Genomic DNA was obtained from peripheral blood. Exon 1 of WNT8b gene and the exon 1 of SHH gene were analyzed for gene mutation. The mutation products were automatically sequenced. The levels of WNT8b and SHH mRNA were detected by quantitative real-time PCR(qRT-PCR) in blood samples.</p><p><b>RESULTS</b>On sequencing, 13 out of 72 children with HSCR had WNT8b gene mutation in the coding area, including heterozygosity deletion in 8 cases (11.1%) and base replacement in 5(6.9%). Eleven children with HSCR had SHH gene mutation in the coding area including heterozygosity deletion in 7 cases(9.7%) and base replacement in 4(5.6%). No mutations in WNT8b and SHH genes were found in the control group. The WNT8b and SHH mRNA levels were different between the study group and the control group(30.01±1.13 vs. 17.33±0.62, and 28.25±1.27 vs. 18.94±0.31, P<0.05).</p><p><b>CONCLUSIONS</b>WNT8b and SHH mutations and abnormal expressions are present in the peripheral blood of children with sporadic HSCR. These two genes may be related to the development of sporadic HSCR in children in the northeastern China.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sequência de Bases
/
Estudos de Casos e Controles
/
Éxons
/
Proteínas Wnt
/
Proteínas Hedgehog
/
Genética
/
Heterozigoto
/
Doença de Hirschsprung
/
Mutação
Tipo de estudo:
Estudo observacional
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Gastrointestinal Surgery
Ano de publicação:
2010
Tipo de documento:
Artigo
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