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目的对一个常染色体显性遗传多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)家系进行基因诊断和产前诊断。方法收集该家系成员的外周血标本及先证者妻子的羊水标本,提取基因组DNA,运用Sanger测序方法对家系成员进行PKD1基因全外显子测序,确定该家系突变位点后,对羊水标本进行产前诊断。结果我们检测出该家系4个病人的PKD1基因均有一个缺失突变C.393-394delTG,该缺失突变为致病突变。进而对先证者妻子的羊水标本进行检测,未发现该缺失突变,结果显示胎儿正常。结论应用Sanger测序技术明确了该家系PKD1基因的致病突变,并对该家系进行了产前诊断。
Objective To carry out genetic diagnosis and prenatal diagnosis of an autosomal dominant polycystic kidney disease (ADPKD) pedigree. Methods The peripheral blood samples of the pedigree and the wife of the proband were collected for amniotic fluid. The genomic DNA was extracted and the members of the pedigree were sequenced by Sanger sequencing. All the exons of PKD1 gene were sequenced. Prenatal diagnosis. Results We detected a deletion mutation C.393-394delTG in PKD1 gene of 4 patients in this pedigree. This deletion mutation is a pathogenic mutation. Further probing the proband’s wife’s amniotic fluid specimens for testing, did not find the deletion mutation, the results show that the fetus is normal. Conclusion Sanger sequencing technique was used to identify the causative mutation of PKD1 gene in this pedigree. The prenatal diagnosis of this pedigree was performed.