Prader-Willi综合征的遗传学研究进展

Progress in genetics of Prader-Willi syndrome

普拉德-威利综合征(PWS)是一种因为缺乏父源染色体15q11.2-q13区域相关基因的表达而引起的多系统受累的复杂遗传性疾病。其主要遗传机制有3种类型,即父源缺失型、母源单亲二倍体型和印记缺陷型。基于PWS的不同遗传机制可进行遗传咨询,对已生育该病患者的夫妇进行再次生育评估及产前诊断。PWS的致病原因及机制较为复杂,分子遗传学的快速发展及相关研究使得对该病得到了更深入的认识。现就PWS的遗传学研究进展作一综述。

Prader-Willi syndrome(PWS)is a multisystemic complex genetic disorder caused by the lack of expression of genes associated with the 15q11.2-q13 region of the paternal chromosome.There are three main types of genetic mechanisms,deletion of the paternal critical region,maternal uniparental disomy and imprinting center defect.Genetic counseling can be carried out based on different genetic mechanisms of PWS,both re-fertility assessments and prenatal diagnoses were performed on couples whose children have already had the disease.The pathogeny and mechanism of PWS are complex.The rapid development of molecular genetics and related research have provided a basis for further understanding of this disease.In this paper,the advances in the genetics of PWS were reviewed.