North Africa is defined as the geographical region separated from the rest of the continent by the Sahara and from Europe by the Mediterranean Sea. The main demographic features of North African populations are their familial structure and high rates of familial and geographic endogamy, which have a proven impact on health, particularly the occurrence of genetic diseases, with a greater effect on the frequency and spectrum of the rarest forms of autosomal recessive genetic diseases. More than 500 different genetic diseases have been reported in this region, most of which are autosomal recessive. During the last few decades, there has been great interest in the molecular investigation of large consanguineous North African families. The development of local capacities has brought a substantial improvement in the molecular characterization of these diseases, but the genetic bases of half of them remain unknown. Diseases of known molecular etiology are characterized by their genetic and mutational heterogeneity, although some founder mutations are encountered relatively frequently. Some founder mutations are specific to a single country or a specific ethnic or geographic group, and others are shared by all North African countries or worldwide. The impact of consanguinity on common multifactorial diseases is less evident.

中文翻译：

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北部非洲人群的健康和疾病中的血缘关系和近亲繁殖。

北非被定义为地理区域，撒哈拉沙漠与该大陆的其余部分隔开，而地中海则与欧洲隔开。北非人口的主要人口统计学特征是其家族结构以及高比例的家族和地理内婚制，这已证明对健康特别是遗传疾病的发生具有影响，对最稀有形式的遗传病的频率和频谱具有更大的影响。常染色体隐性遗传疾病。该地区已报告了500多种不同的遗传疾病，其中大多数是常染色体隐性遗传的。在过去的几十年中，对大型近亲北非家庭的分子研究引起了极大的兴趣。地方能力的发展已大大改善了这些疾病的分子特征，但其中一半的遗传基础仍然未知。已知分子病因的疾病以其遗传和突变异质性为特征，尽管一些创始者突变相对频繁地遇到。一些创始人突变是特定于单个国家或特定种族或地理群体的，而其他突变则是由所有北非国家或全世界共享的。血缘关系对常见的多因素疾病的影响不太明显。一些创始人突变是特定于单个国家或特定种族或地理群体的，而其他突变则是由所有北非国家或全世界共享的。血缘关系对常见的多因素疾病的影响不太明显。一些创始人突变是特定于单个国家或特定种族或地理群体的，而其他突变则是由所有北非国家或全世界共享的。血缘关系对常见的多因素疾病的影响不太明显。