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模拟布列塔尼的囊性纤维化传播,使用500多年的家谱数据

Nadine Pellen¹, Jean-Yves Le Reste¹, Jean Argouarc'h²

¹ER 7479 SPURBO, University of Western Brittany, 22, av. Camille Desmoulins, Brest, FR 29238, France.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

|November 20, 2023

概括

布列塔尼的高囊性纤维化 (CF) 基因频率表明携带者是通过海路抵达的. 对于健康的CF携带者来说,每代约有4-6%的选择性优势可能解释了他们目前的患病率.

科学领域:

人口遗传学人口遗传学
人类遗传学人类遗传学
医学遗传学医学遗传学

背景情况:

法国布列塔尼地区在欧洲表现出异常高频率的致囊性纤维化 (CF) 的等位基因.
调查了两个主要假设:公元1世纪中叶CF载体的海上抵达以及健康CF载体的选择性优势.

研究的目的:

调查在布列塔尼的囊性纤维化引起的等位基因的起源和传播.
确定导致该地区高CF等位基因频率的人口因素.

主要方法:

对囊性纤维化患者人口普查数据的分析,以创建流行等位基因的频率图.
开发一个数学模型,模拟CF引起的变异携带者在五个世纪的传播,并结合迁移模式和代际间隔.
在各种移民场景下,与当前的频率图进行模拟的等位基因分布的比较.

主要成果:

携带CFTR变异的携带者定居在多个地点,向外扩散,特别是在布列塔尼中部 (F508del),莱昂 (G551D) 和科尔诺 (1078delT).
同基因的频率随着缓慢的迁移逐渐增加,直到18世纪末,随后是快速的迁移和局部频率的下降.
据估计,F508del变种起源于大约190代以前.

结论:

对于健康的囊性纤维化病携带者来说,需要一个选择性的优势,估计每代为4-6%,以解释观察到的等位基因频率.
这些发现支持了载体迁移和随后的进化压力塑造布列塔尼CF等位基因分布的假设.

关键词:

囊性纤维化症是什么人口统计学人口统计学扩散扩散是一种扩散.频率频率是一个频率.基因谱系基因谱系基因谱系遗传学遗传学是一个移民移民移民流动性流动性流动性建模模型建模模型突变突变突变突变人口人口的人口人口.有选择性的优势.这是Zipf的法则.

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