[Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].
Zhongguo Dang Dai Er Ke Za Zhi
; 16(3): 259-62, 2014 Mar.
Article
em Zh
| MEDLINE
| ID: mdl-24661517
ABSTRACT
OBJECTIVE:
To investigate the type and frequency of mutations in exon 7 of phenylalanine hydroxylase (PAH) gene among children with phenylketonuria (PKU) in Ningxia, China and to provide a basis for the genetic diagnosis and prenatal diagnosis of PKU in this region.METHODS:
Direct sequencing of PCR product was performed to analyze the sequences of exon 7 and its flanking introns of 146 PAH alleles in 73 children with typical PKU (39 cases of Hui nationality and 34 cases of Han nationality) in Ningxia.RESULTS:
Six mutations were detected, including R243Q (14.4%), R241C (6.8%), IVS7+2TâA (2.7%), L255S (0.7%), G247V (0.7%), and G247R (0.7%). The overall frequency of mutations (missense mutation and splice site mutation) in exon 7 was 26.0% (38/146). The detection rate of R241C mutation was significantly higher in children of Hui nationality than in children of Han nationality(10% vs 3%; P<0.05).CONCLUSIONS:
In Ningxia, R243Q mutation in exon 7 of PAH gene is most common in children with PKU, followed by R241C. The frequency of R241C mutation in exon 7 of PAH gene varies between children with PKU of Hui and Han nationality.
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Base de dados:
MEDLINE
Assunto principal:
Fenilalanina Hidroxilase
/
Fenilcetonúrias
/
Éxons
/
Mutação
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Zhongguo Dang Dai Er Ke Za Zhi
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
China