Shawky R M, el-Aleem K A, Rifaat M M, el-Naggar R L, Marzouk G M
Department of Paediatrics, Genetics Centre, Ain-Shams University, Cairo, Egypt.
East Mediterr Health J. 2002 Jan;8(1):49-54.
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.
苯丙酮尿症（PKU）是一种由苯丙氨酸羟化酶（PAH）系统缺陷引起的常染色体隐性遗传疾病。我们的工作旨在筛查PAH基因座，寻找可能有用的短串联重复序列（STR）作为埃及PKU家庭中携带者检测的标记，并确定埃及人群中PAH杂合性水平。该系统在埃及人群中包含至少八个独立等位基因，以孟德尔方式遗传。在所研究的16个家庭中，STR数量的变化产生了多态性，这些多态性被证明是PKU携带者检测和产前诊断的合适标记。PKU患者中最常见的等位基因片段大小为246 bp（35.7%），该片段与254 bp的片段一起占突变染色体的60.7%。
