Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.
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.
Department of Paediatrics, Genetics Centre, Ain-Shams University, Cairo, Egypt.
R M
RM
Shawky
K A
KA
el-Aleem
M M
MM
Rifaat
R L
RL
el-Naggar
G M
GM
Marzouk
D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D004534:Egypt / Q000453:epidemiology; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D011296:Prenatal Diagnosis / Q000379:methods; D013997:Time Factors; D044465:White People / Q000235:genetics
D005819:Genetic Markers; D010651:Phenylalanine Hydroxylase