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    • Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene 

      Shawky, R.M.; El Aleem, K.A.; Rifaat, M.M.; El Naggar, R.L.; Marzouk, G.M. (‎2002)‎
      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 ...