Article
Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit - 1 Jan 2002
Shawky R M, el-Aleem K A, Rifaat M M, el-Naggar R L, Marzouk G M
Abstract excerpt
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...
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