Abstract: Objective To elucidate the molecular genetic defect of autosomal dominant polycystic kidney disease in a Chinese family and to perform prenatal diagnosis for the fist pregnancy of the proband's wife. Methods Disease-causing gene was located by linkage analysis of polymorphic markers. Mutations in the proband was screened by direct sequencing the exons and the flanking introns amplified by polymerase chain reaction (PCR) . Other patients in the family were screened by allele-specific PCR (AS-PCR). Prenatal diagnosis was carried out with linkage analysis and mutation detection. Results A point mutation of c.1249C﹥T(p.R417X) in exon 5 of PKD2 gene was identified. The fetus was not to carry the mutant allele. Conclusion The mutation of c.1249C﹥T(p.R417X) was responsible for the ADPKD in this Chinese family and the prenatal diagnosis was carried out successfully.

Key words: Autosomal dominant polycystic kidney disease, PKD2 gene, AS-PCR, prenatal diagnosis