An Investigation on Linkage Analysis in Autosomal Dominant Polycystic Kidney Patients in Qom Province in 2014

Polycystic kidney disease (PKD) is a common inherited disease which makes renal cortex and medulla full of cysts and eventually lead to ESRD during middle age and then. This disorder is inherited as an autosomal dominant or recessive. ADPKD is common among adults. In this type of inheritance, mutation occurs in one of three known genes. In almost 85% of patients, mutation occurred in PKD1 gene and 10-15% patients in PKD2 gene. Also the third gene has been identified as PKD3 which causes autosomal dominant family polycystic kidney, but the frequency of families carrying this mutation in this gene is reported very low. Obtaining DNA performed in seven families with polycystic disease of adults and five members of these families. The obtained DNA was amplified using PCR and the continuous microsatellite to pathogenic type 1 and 2 gene were investigated. Microsatellite polymorphism which existed in these patients were selected and the assessment of gene linkage for all members of the household were used. Among the seven studied families, only the one with autosomal recessive inheritance in their pedigree, for D6S1344 marker was reported informative. In four other families with autosomal dominant inheritance, one of the D16S283, KG8 and D4S423 markers were positive. The remaining two families were not positive for any of the markers. According to the findings of this study, five of seven studied families with genetic linkage analysis in terms of used markers were positive. It is suggested that for all kidney donors who have family history of ADPKD, genetic evaluation is done to assess their health. Besides in patients with a positive family history ADPKD, using analyzed continuous microsatellite in terms of mutations in PKD1 and PKD2 genes can achieve early diagnosis.