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Title: Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene
Authors: Shawky, R.M.
El Aleem, K.A.
Rifaat, M.M.
El Naggar, R.L.
Marzouk, G.M.
Issue Date: 2002
Language: English
Abstract: Phenylketonuria [PKU] is an autosomal recessive genetic disorder caused by defects in the phenylalanine hydroxylase [PAH] system. Our work aimed to screen the PAH locus for the presence of potentially useful short tandem repeats [STR] as markers for carrier detection in PKU families in Egypt, and to determine the level of PAH heterozygosity within the Egyptian population. The system contains at least eight independent alleles in the Egyptian population, transmitted in a Mendelian fashion. Variations in the number of STR in the 16 families studied gave rise to polymorphisms that proved to be suitable markers for PKU carrier detection and prenatal diagnosis. The most frequent allelic fragment size in PKU patients was 246 bp [35.7%], which together with a fragment of 254 bp accounted for 60.7% of the mutant chromosomes
Description: 49-54
Keywords: Asian Continental Ancestry Group
Case-Control Studies
European Continental Ancestry Group
Gene Frequency
Genetic Screening
Heterozygote Detection
Microsatellite Repeats
Polymorphism, Genetic
Subject: Phenylalanine Hydroxylase
ISSN: 1020-3397
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Appears in Collections:EMRO Journal Articles (EMHJ)

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