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首页> 外文期刊>Genetic testing and molecular biomarkers >Low Prevalence of p.G352fsdelG Mutation in Phenylketonuria Patients from Morocco
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Low Prevalence of p.G352fsdelG Mutation in Phenylketonuria Patients from Morocco

机译：p.G352fsdelG突变患病率较低苯丙酮尿症患者从摩洛哥

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摘要

Objective: Frameshift mutation p.G352fsdelG in the PAH gene was recently reported as the most common mutation in Moroccan patients with phenylketonuria (PKU). This result, if confirmed, would considerably facilitate genetic counseling and molecular diagnosis of the disease in Morocco. Given that the incidence of PKU in the Mediterranean region is estimated at between 1/4000 and 1/10,000, this mutation would be harbored by many Moroccans. We aimed to estimate the frequency of heterozygotes for the p.G352fsdelG mutation in Moroccan newborns. Materials and Methods: In this study, we used a reliable TaqMan? real-time polymerase chain reaction to detect the mutation p.G352fsdelG in the PAH gene in 250 unrelated Moroccan newborns. DNA was extracted from umbilical cord blood with maternal consent. Results: The supposed recurrent mutation p.G352fsdelG was found in none of the 250 tested newborns. Therefore, the frequency of heterozygotes for this mutation would be less than 1/250, and the incidence of patients with PKU homozygous for this mutation would not exceed 1/100,000. Conclusion: The p.G352fsdelG mutation in the PAH gene does not appear to be prevalent in the Moroccan population and would be responsible for only few cases of PKU. The previous report of this anomaly as being responsible for 62.5% of PKU patients in Morocco could be explained by selection bias.
机译：摘要目的:移码突变p.G352fsdelGPAH基因最近被报告为最常见摩洛哥的突变患者苯丙酮酸尿(北大)。将大大促进遗传咨询和分子诊断的疾病摩洛哥。地中海地区之间的估计1/4000 1/10,000,这种突变拥有许多摩洛哥人。频率的杂合体p.G352fsdelG突变在摩洛哥的新生儿。材料与方法:在这项研究中,我们使用一个可靠TaqMan吗?反应来检测突变p.G352fsdelG250年的PAH基因无关的摩洛哥新生儿。从脐带血液中提取DNA母亲的同意。突变p.G352fsdelG在没有被发现250年新生儿进行测试。对这种突变杂合子将更少1/250,患者的发病率北大纯合突变不会超过1/100,000。PAH基因似乎并不普遍在摩洛哥人口和负责北大只有少数病例。以前的报告的异常是负责北大62.5%病人在摩洛哥可以解释为选择性偏差。

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