对90例埃及苯丙酮尿症患者进行六种地中海突变筛查。
Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.
作者信息
Effat L K, Essawi M L, Abd El Hamid M S, Hawari N, Gad Y Z
机构信息
Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Center, Cairo, Egypt.
出版信息
Bratisl Lek Listy. 2008;109(1):17-9.
OBJECTIVES
The aim of this study is to assess the prevalence of six common mutations in the Mediterranean basin and Turkey among a large group of Egyptian PKU cases
BACKGROUND
Phenylketonuria (PKU) is one of the most common inborn errors of amino acid metabolism that is caused by deficiency of hepatic phenylalanine hydroxylase (PAH). This deficiency is attributed to more than 528 mutations in the PAH gene.
METHODS
Ninety unrelated patients with PKU (180 alleles) were screened for six mutations (IVS10-11G>A, R261Q, R252W, Y277D, E221G and G272S) using polymerase chain reaction-restriction fragment length polymorphism.
RESULTS
The IVS10-11G>A mutation was found in thirty alleles (17%), the R261Q in twelve (7%) and R252W in three (1.6%), while Y277D, E221G and G272S were not found in this patient group.
CONCLUSION
Screening for six Mediterranean mutations identified a heterogeneous pattern among Egyptian PKU patients with a high frequency of IVS10-11 G>A (17%) (Tab. 2, Ref. 31). Full Text (Free, PDF) www.bmj.sk.
目的
本研究旨在评估地中海盆地和土耳其的一大群埃及苯丙酮尿症（PKU）患者中六种常见突变的患病率。
背景
苯丙酮尿症（PKU）是最常见的先天性氨基酸代谢紊乱疾病之一，由肝脏苯丙氨酸羟化酶（PAH）缺乏引起。这种缺乏归因于PAH基因中的528多种突变。
方法
使用聚合酶链反应-限制性片段长度多态性对90名无关的PKU患者（180个等位基因）进行六种突变（IVS10-11G>A、R261Q、R252W、Y277D、E221G和G272S）的筛查。
结果
在30个等位基因（17%）中发现了IVS10-11G>A突变，12个（7%）中发现了R261Q突变，3个（1.6%）中发现了R252W突变，而在该患者组中未发现Y277D、E221G和G272S突变。
结论
对六种地中海突变的筛查发现，埃及PKU患者中存在异质性模式，IVS10-11 G>A突变频率较高（17%）（表2，参考文献31）。全文（免费，PDF）www.bmj.sk。
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