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首页> 外文期刊>American Journal of Obstetrics and Gynecology >Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: Navigating the genetic maze
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Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: Navigating the genetic maze

机译：产前环境中Ashkenazi犹太人疾病的携带者测试：遗传迷宫

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摘要

Exciting developments in the fields of genetics and genomics have facilitated the identification of the etiological basis of many Mendelian disorders. Several of the methods used in gene discovery have focused initially on homogeneous populations, including the Ashkenazi Jewish population. The founder effect is well recognized in this community, in which historical events and cultural behaviors have resulted in a limited number of mutations underlying genetic disorders with substantial health impact. New technologies have made it possible to rapidly expand the test panels, changing testing paradigms, and thereby creating challenges for the physician in deciphering the appropriate approach to genetic screening in this population. The goal of this review is to help primary obstetric health care providers navigate through this quickly moving field so as to better counsel and support their patients of Ashkenazi Jewish heritage.
机译：遗传学和基因组学领域的激动人心的发展促进了许多孟德尔疾病的病因学基础的确定。基因发现中使用的几种方法最初集中于同质种群，包括Ashkenazi犹太种群。在这个社区中，创始人的作用得到了广泛认可，在该社区中，历史事件和文化行为已导致数量有限的遗传疾病潜在的突变，对健康产生重大影响。新技术使迅速扩展测试面板，改变测试范式成为可能，从而给医生带来了挑战，要求其在该人群中寻找合适的基因筛选方法。这次审查的目的是帮助初级产科医疗保健提供者在这个快速发展的领域中导航，以便更好地为他们的Ashkenazi犹太遗产患者提供咨询和支持。

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