基于基因诊断的单基因遗传病的遗传咨询

Genetic counseling for families with single gene disorders based on genetic diagnosis

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 analyze the molecular genetic mechanisms of single gene disorders in the families with patients and analyze the strategies of genetic counseling for these families. Methods：seven suspected families of single gene disorders were enrolled.Mutations detected from the related genes were confirmed by direct Sanger sequencing reactions. Results：Heterozygous mutations or compound heterozygous mutations were found in seven cases,ten heterozygous mutations and one compound heterozygous mutation were found in other members of their families.Four fetuses were confirmed getting the normal allele or heterozygous mutations from the mothers. Conclusion：Next-generation sequencing has shown to be an effective,rapid,high performance technique. The methodology provides a reliable strategy for routine gene diagnosis and genetic counseling on single gene disorders.