New contribution on the LRRK2 G2019S mutation associated to Parkinson’s disease: age estimation of a common founder event of old age in Moroccan Berbers

G. Lucotte, D. David, N. Change
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引用次数: 3

Abstract

Background: The LRRK2 G2019S mutation is an important genetic determinant of Parkinson’s disease (PD) across the world that occurs at an elevated frequency in North Africa. Aim: To estimate the date of the G2019S mutation in Berbers. Material and Methods: We determined the LRRK2 haplotypes in twenty-two G2019S carriers, mostly North Africans, and in one hundred twenty-four Arab, Moroccan Berber and Sephardi Jew controls, using seven microsatellite and two SNP genetic markers. Results: A single haplotype was detected, with some variations, in all mutation carriers. Using a maximum–likelihood method, we estimate that Moroccan Berbers with G2019S share a common ancestor who lived ~128 (95% CI 107-180) generations ago. Conclusion: Our conclusion is that the G2019S mutation of the LRRK2 gene originates 3,840 (95% CI 3,210-5,400) years ago in parkinsonian Moroccan Berbers patients. Key words: Parkinson’s disease (PD), Leucine-rich repeat kinase 2 ( LRRK2 ) gene, G2019S mutation, Haplotype, Founding mutation.
对与帕金森病相关的LRRK2 G2019S突变的新贡献:摩洛哥柏柏尔人老年共同创始事件的年龄估计
背景:LRRK2 G2019S突变是世界范围内帕金森病(PD)的重要遗传决定因素,在北非发生频率升高。目的:估计柏柏尔人G2019S突变的日期。材料和方法:我们使用7个微卫星和2个SNP遗传标记确定了22名G2019S携带者(主要是北非人)和124名阿拉伯人、摩洛哥柏柏尔人和西班牙法迪犹太人的LRRK2单倍型。结果:在所有突变携带者中均检测到单个单倍型,并存在一定的变异。使用最大似然方法,我们估计摩洛哥柏柏尔人与G2019S有共同的祖先,生活在约128代(95% CI 107-180)以前。结论:我们的结论是,LRRK2基因的G2019S突变起源于3840年前(95% CI 3210 - 5400)的帕金森摩洛哥柏柏尔患者。关键词:帕金森病,富亮氨酸重复激酶2 (LRRK2)基因,G2019S突变,单倍型,创始突变
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