Document Detail


Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.
MedLine Citation:
PMID:  19915519     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The absence of a comprehensive analysis for phenylketonuria (PKU) mutations in the Chinese Han population has resulted in continued studies during the past 18 y to elucidate the mutational spectrum in patients from virtually all Chinese regions. Our study systematically investigated 13 exons and their surrounding introns of the phenylalanine hydroxylase (PAH) gene in 212 unrelated patients using PCR and direct sequencing. A total of 79 different mutations were identified in 405 of 424 mutant PAH alleles including 15 novel ones. Eight mutations, R243Q, Ex6-96A>G, IVS4 - 1G>A, R413P, Y356X, R111X, R241C, and V399V, with a relative frequency of 3% or more, accounted for two thirds of the identified ones. The data presented in this study indicates that the total pool of mutant PAH alleles in China consisted of a small number of common mutations and a very high number of rare mutations. Moreover, by merging the findings of previous studies to generate a more composite data set for the Chinese mainland, it is shown that there are no significant differences of the common mutations between southern and northern except for R413P statistically, raising questions about the previous hypothesis that great variations on mutation frequencies exist between above regions.
Authors:
Tianwen Zhu; Shengying Qin; Jun Ye; Wenjuan Qiu; Lianshu Han; Yafen Zhang; Xuefan Gu
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric research     Volume:  67     ISSN:  1530-0447     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-02-15     Completed Date:  2010-04-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  280-5     Citation Subset:  IM    
Affiliation:
Department of Endocrinology and Genetic Metabolism, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
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MeSH Terms
Descriptor/Qualifier:
Asian Continental Ancestry Group / genetics*
Chi-Square Distribution
Child, Preschool
China / epidemiology
DNA Mutational Analysis
Exons
Gene Frequency
Genotype
Humans
Infant
Infant, Newborn
Introns
Mutation*
Phenotype
Phenylalanine Hydroxylase / genetics*
Phenylketonurias / enzymology,  ethnology*,  genetics*
Residence Characteristics
Chemical
Reg. No./Substance:
EC 1.14.16.1/Phenylalanine Hydroxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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