The clinical application of NGS-based SNP haplotyping for PGD of Usher syndrome

【作者】 严提珍； 李伍高； 唐永梅； 李哲涛； 覃祖兴； 黄际卫； 谭建强； 李忻琳； 韦立红； 蔡稔；

【机构】 Key Laboratory of birth defects prevention and control； Department of Medical Genetics； Liuzhou Maternity and Child Healthcare Hospital；

【摘要】 <正>Objective Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss,retinitis pigmentosa and,in some cases,vestibular dysfunction.It is clinically and genetically heterogeneous.Preimplantation genetic diagnosis (PGD) is a method allowing transfer mutation free embryos and successful pregnancies.It’s an established procedure allowing genetic research of the oocyte before fertilization or embryo before implantation to the uterus.更多还原