单基因病携带者筛查的进展

Advances in carrier screening for the monogenetic disease

单基因病是遗传性出生缺陷的重要组成部分,大多可导致儿童畸形、残疾,甚至死亡。其中,隐性遗传病通常发生于无家族史及无症状的致病变异基因携带者家庭,实施携带者筛查是预防该类遗传病的重要手段。针对特定地区、种族的高发遗传病的携带者筛查已经广泛应用于临床,对隐性遗传病的预防发挥了重要作用。近年来,随着基因测序技术的发展和更多疾病—致病基因关系的明确,扩展性携带者筛查受到越来越多的关注。该文就携带者筛查的背景与现状、面临的问题及发展趋势进行综述。

The monogenetic diseases are an important part of hereditary birth defects,most of which can lead to deformity,disability and even death in children.Among them,recessive genetic diseases usually occur in families with no family history and asymptomatic carriers of disease-causing mutations.Carrier screening is an important means to prevent such genetic diseases.Screening for carriers of high-incidence genetic diseases of races in specific regions has been widely used in clinics and has played an important role in the prevention of recessive genetic diseases.In recent years,with the development of gene sequencing technology and the clarification of the relationship between more diseases and pathogenic genes,expanded carrier screening has received more and more attention.This article reviews the background and current situation,the problems and development trends of carrier screening.