摘要目的:对1例常染色体隐性多囊肾病胎儿的 PKHD1基因进行变异分析，明确其致病原因。 方法:收集引产胎儿的新鲜组织及父母外周静脉血进行相关基因测序分析，并通过Sanger测序进行家系分析及位点验证。结果:胎儿组织样本检测到 PKHD1基因存在c.5336A>T(p.Asn1779Ile)和c.9455delA(p.Asn3152Thrfs*10)复合杂合变异，Sanger测序结果显示父亲携带c.5336A>T(p.Asn1779Ile)杂合变异，母亲携带c.9455delA(p.Asn3152Thrfs*10)杂合变异，因此胎儿的变异分别来源于其父母。经检索相关数据库及文献均为未报道的新变异。 结论:PKHD1基因的c.5336A>T和c.9455delA变异可能为该家系患儿的致病原因，本研究结果为家系的遗传咨询和临床产前诊断提供了依据。

abstractsObjective:To explore the genetic basis for a fetus with autosomal recessive polycystic kidney disease (ARPKD).Methods:Fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple. Following extraction of genomic DNA, genetic testing was carried out.Results:The fetus was found to carry compound heterozygous variants of the PKHD1 gene, namely c. 5336A>T (p.N1779I) and c. 9455delA (p.N3152Tfs*10), which were respectively inherited from the husband and wife. Conclusion:The c. 5336A>T and c. 9455delA variants of the PKHD1 gene probably account for the ARPKD in the fetus. Above results have enabled genetic counseling and prenatal diagnosis for the couple.