Document Detail

A simple, rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria.
MedLine Citation:
PMID:  7899279     Owner:  NLM     Status:  MEDLINE    
The polymorphic information content (PIC) and the degree of heterozygosity of several polymorphic systems within the phenylalanine hydroxylase (PAH) gene were determined in 85 European Caucasian and 19 Chinese phenylketonuria (PKU) kindreds. The first system examined, a short tandem repeat (STR), had a PIC of 80 and 73 per cent in these Caucasian and Chinese samples, respectively. The degree of heterozygosity actually observed for this system was 81 and 64 per cent in the Caucasian and Chinese PKU families, respectively. Through the addition of a second polymorphism based on a variable number of tandem repeats (VNTR), the PIC was increased to 90 per cent in Caucasians, but only to 75 per cent in Chinese. The degree of heterozygosity observed for this combination was 94 per cent in European PKU families and 67 per cent in Chinese PKU families. The further addition of an Xmnl RFLP increased both the PIC and the level of heterozygosity in Caucasians to 95 per cent, but did not change either of these measures in Chinese. The combined use of these three polymorphisms significantly increases the informativity of prenatal diagnostic and carrier screening procedures in both Caucasian and Chinese PKU kindreds. Furthermore, since each of these polymorphisms can be studied by PCR-based methods, these new tests can be performed more quickly and easily than previous Southern-based procedures.
R C Eisensmith; A A Goltsov; S L Woo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  14     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1994 Dec 
Date Detail:
Created Date:  1995-04-27     Completed Date:  1995-04-27     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1113-8     Citation Subset:  IM    
Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030.
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MeSH Terms
Asian Continental Ancestry Group
Base Sequence
European Continental Ancestry Group
Gene Frequency
Heterozygote Detection / methods*
Molecular Sequence Data
Phenylalanine Hydroxylase / genetics
Phenylketonurias / diagnosis*,  genetics*
Polymerase Chain Reaction*
Polymorphism, Restriction Fragment Length
Prenatal Diagnosis / methods*
Repetitive Sequences, Nucleic Acid
Grant Support
Reg. No./Substance:
EC Hydroxylase

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

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