目的利用基因诊断对单基因病家系进行检测,分析发病机制,为单基因病家庭提供遗传咨询。方法对7个单基因病家系利用目标捕获高通量测序检测致病基因,并经一代测序验证。结果 7名先证者均检测出杂合突变或复合杂合突变,患者家庭成员经验证检出杂合突变10例,1例复合杂合突变。4例胎儿经产前诊断验证为携带者或正常胎儿。结论利用新一代测序技术较传统检测技术更为高效、快速,成本更低,有助于单基因遗传病的遗传咨询和产前指导。 Objective To detect the single gene family by gene diagnosis, analyze the pathogenesis and provide genetic counseling for single gene family. Methods Seven monogenic pedigrees were used to detect the causative genes by high-throughput sequencing and verified by a single-generation sequencing. Results All 7 probands detected heterozygous mutation or compound heterozygous mutation. 10 cases of heterozygous mutation and 1 case of complex heterozygosis were detected in the family members. 4 cases of fetus confirmed by prenatal diagnosis as carriers or normal fetuses. Conclusion The use of next-generation sequencing technology is more efficient, faster and less costly than the traditional detection techniques. It is helpful for genetic counseling and prenatal guidance of single-gene inherited diseases.