Presymptomatic And Antenatal Diagnosis Of Autosomal Dominant Polycystic Kidney Disease By Microsatellite Dna

Objective: Autosomal dominant polycystic kidney disease (ADPKD) isone of the most common hereditary kidney disease with a characteristic oflate-onset inheritance. Currently there is no effective treatment for this disease,and the principles of prevention the disease is based on the interruption oftransmitting the disease gene e from generations by presymptomatic andantenatal diagnosis in ADPKD families. In this study linkage analysis withmicrosatellite DNA makers linked to PKD1were used in performingpresymptomatic and antenatal gene diagnosis in a large ADPKD family.Methods: Genomic DNA of all the ADPKD families members andchorionic villus DNA were extracted, four microsatellite DNA makers (SM6、KG8、CW4、CW2) closely linked to PKD1of Guangxi population, these fourmakers were amplified by fluorescent PCR, and then the PCR products of eachmaker were examined by capillary eletrophoresis and gene scanning. Inaddition, linkage analysis and haplotypes analysis were carried out foridentifying the specific disease gene in a large ADPKD family of27members(including a fetus).Results: Among the27family members,Ⅱ1、Ⅱ3、Ⅱ8、Ⅱ10、Ⅱ12、 Ⅲ3、Ⅲ9were diagnosed ADPKD definitely, carried the same haplotype of2—1—2which linked to the disease-causing gene of PKD1; The18years oldindividual Ⅲ5was detected a asymptomatic carier of mutated PKD1gene,carried the haplotype of2—1—2but without any clinical symptom of ADPKDor renal cysts at present; In addition, Ⅳ1did not carried haplotype of2—1—2from the haplotype analysis result, thus prenatal gene test showed that the fetusdid not obtain the disease-causing gene from the father and would not inheritfamily disease of ADPKD.Conclusion: Microsatellite DNA makers are high genetic polymorphismsand high level of genetic conservative in each family. Using linkage analysiswith microsatellite DNA makers can identify asymptomatic carriers of mutatedgene in ADPKD families, and selecting multiple microsatellite DNA makerslinked to disease gene could improve diagnostic accuracy of ADPKD. It is oneof the most widely used methods in clinic diagnosis for ADPKD. Theadvantages of short gene length, high efficient amplification and accurategenotyping make the technology of microsatellite DNA a rapid, simple andeconomic approach to diagnosis ADPKD.