神经肌肉病患者家系的基因诊断分析

Genetic diagnosis and analysis of neuromuscular disease pedigree

对1疑似神经肌肉病患儿家系进行基因检测,以明确其致病基因及基因分型,并对该家庭进行遗传咨询。通过联合应用高通量测序(panel)结合多重连接探针扩增(MLPA)及Sanger测序技术对患者家系进行相关致病基因突变分析。家系中先证者诊断为脊髓性肌萎缩症(SMA)患者,其弟弟为苯丙酮尿症患者,父母均为SMA与苯丙酮尿症(PKU)的携带者。随着生育政策的放开及社会和家庭对优生优育需求的不断增长,扩展性携带者筛查技术可为备孕或者孕早期的夫妇及遗传病生育史的家庭提供精准的妊娠前规划和妊娠管理。

To investigate the gene mutations of a family suspected with neuromuscular disease, and to conduct genetic counseling for the family. Target sequence capture combined with high-throughput next-generation sequencing,and Sanger sequencing/MLPA(multiplex ligation-dependent probe amplification) technologies were used to investigate the gene mutations for the families. The proband in the family was diagnosed as a patient with SMA, his younger brother was a patient with phenylketonuria, and both parents were carriers of SMA and phenylketonuria. With the liberalization of the fertility policy and the growing demand for prenatal and postnatal care in society and families, the extended carrier screening(ESC)technology can provide accurate pre-pregnancy planning and pregnancy management for couples who are trying to conceive or in the first trimester and families with a reproductive history of genetic diseases.