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Distribution of Some Point Mutations in the Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from the Moscow Region

 

作者: E.V. Charikova,   S.E. Khalchitskii,   A.G. Antoshechkin,   E.I. Schwartz,  

 

期刊: Human Heredity  （Karger Available online 1993）
卷期: Volume 43, issue 4  

页码: 244-249

 

ISSN:0001-5652

 

年代: 1993

 

DOI:10.1159/000154138

 

出版商: S. Karger AG

 

关键词: Phenylketonuria;Phenylalanine hydroxylase;DNA amplification;Mutation frequency;Compound heterozygosity

 

数据来源: Karger

 

摘要:

Thirty-one unrelated phenylketonuria patients from the Moscow region were screened for mutations in the phenylalanine hydroxylase gene at the following codons: 408, 158, 261 and IVS-12. For detection of point mutations, polymerase chain reaction amplification was applied with allele-specific oligonucleotide hybridization. The following mutation frequencies were determined: codon 408 – 56.4%; codon 158 – 8.1%; codon 261 – 3.2%, and IVS-12

 

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