Consanguinity and Inbreeding in Health and Disease in North African Populations.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-04-30 DOI:10.1146/annurev-genom-083118-014954
Lilia Romdhane, Nessrine Mezzi, Yosr Hamdi, Ghada El-Kamah, Abdelhamid Barakat, Sonia Abdelhak
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引用次数: 42

Abstract

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.

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北非人群健康与疾病的血缘关系和近亲繁殖。
北非被定义为一个地理区域,它被撒哈拉沙漠与非洲大陆其他地区隔开,被地中海与欧洲隔开。北非人口的主要人口特征是其家庭结构和家庭和地域内婚率高,这已证明对健康有影响,特别是对遗传疾病的发生,对最罕见的常染色体隐性遗传疾病的频率和范围有更大的影响。据报道,该地区有500多种不同的遗传疾病,其中大多数是常染色体隐性遗传病。在过去的几十年里,人们对北非大近亲家族的分子研究产生了极大的兴趣。当地能力的发展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,尽管一些创始突变相对频繁。一些始祖突变是特定于一个国家或特定的种族或地理群体的,而其他突变是所有北非国家或全世界共有的。血缘关系对常见多因素疾病的影响不太明显。
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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