Consanguinity and Genomics —— Special Topic Issue: Human Heredity 2014, Vol. 77, No. 1-4

----- 血缘关系与基因组学

ISBN: 9783318027020 出版年:2014 页码:241 S.Karger

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When researching the genetics of consanguineous marriages, the medical and scientific community continues to pay attention mainly to rare autosomal recessive diseases. But from an overall population and health perspective, consanguinity is a much more extensive and complex topic that is influenced by major social, economic, and demographic factors. Genome analysis is, however, the principal unifying theme in this special topic issue since next-generation sequencing has become increasingly indispensable for profiling populations and diagnosing diseases, and thus is central to investigations into the biological and health outcomes arising as a consequence of consanguinity. With some 1.1 billion people living in countries, mainly in North and Sub-Saharan Africa, the Middle East, and West, Central and South Asia, where 20–50% of marriages are between close kin, consanguinity is a topic of major contemporary significance. Written by experts in the field, this thematically diverse collection of papers provides new and exciting insights into the rationale for and outcomes of consanguineous marriage.

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