Prenatal DNA diagnosis of phenylketonuria in Chinese population

Pian Chang Hou, Shigeo Kure, Kazutoshi Takahashi, Yoich Matsubara, Kuniaki Narisawa

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1 Citation (Scopus)


To establish the prenatal DNA diagnosis method in Chinese population, we examined 44 Chinese phenylketonuria (PKU) families by the mutation detection and the polymorphic marker analysis. First, we detected the presence of seven mutations with relatively-high prevalence, R243Q, Y204C, R111X, R261Q, Y356X, R413P, and IVS 4nt-l by multiplex allele specific amplification method. As a result 12 out of 44 families (40.9%) turned out to be susceptible of DNA prenatal diagnosis. Second, we examined two polymorphic markers, a short tandem repeat (STR) and a variable number of tandem repeat (VNTR), in phenylalanine hydroxylase gene locus. By using two polymorphic markers we could antenatally diagnose 23 out of 44 families (52.2%). Twelve out of 44 families could be diagnosed by both the mutation detection and the polymorphic marker analysis. By a combination method of both analyses we could diagnose 33 out of 44 families (75%) antenatally. These results suggests that the combination of mutation and polymorphic maker analyses is useful in performing the prenatal DNA diagnosis in Chinese population.

Original languageEnglish
Pages (from-to)47
Number of pages1
JournalJapanese Journal of Human Genetics
Issue number1
Publication statusPublished - 1996

ASJC Scopus subject areas

  • Genetics(clinical)


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