DISTRIBUTION OF SOME POINT MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE OF PHENYLKETONURIA PATIENTS FROM THE MOSCOW REGION

被引：13

作者：

CHARIKOVA, EV

KHALCHITSKII, SE

ANTOSHECHKIN, AG

SCHWARTZ, EI

机构：

[1] RUSSIAN ACAD SCI, INST MOLEC GENET, INHERITED METAB DEFECTS LAB, 46 KURCHATOV SQ, MOSCOW 123182, RUSSIA

[2] RUSSIAN ACAD SCI, INST NUCL PHYS, GATCHINA, RUSSIA

来源：

HUMAN HEREDITY | 1993年 / 43卷 / 04期

关键词：

PHENYLKETONURIA; PHENYLALANINE HYDROXYLASE; DNA AMPLIFICATION; MUTATION FREQUENCY; COMPOUND HETEROZYGOSITY;

D O I：

10.1159/000154138

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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 - 16%.

引用

页码：244 / 249

页数：6

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