[Association analysis of autosomal dominant polycystic kidney disease in familial type in East-Azerbaijan]

ABSTRACT

Familial form of polycystic kidney disease which is inherited as an autosomal dominant pattern is one of the most common form of kidney disease. The main manifestation of this disease is the presence of growing cysts in kidney which results in malfunction of kidney. The frequency of disease is one in 1000 living birth. Mutation in one of the three different genes could result in developing polycystic kidney disease. Genetically analysis has been able to identify two of the genes, PKD1 and PKD2, located on chromosome 16 and chromosome 4 respectively. The location of the third gene remains unrevealed and the frequency of families affected due to the mutation on this gene is very low. By applying microsatellites tightly linked to the identified polycystic kidney disease genes, affected families referred from East Azerbaijan were genetically analyzed. Families with at least three affected members by polycystic kidney disease were studied. Polymorphic microsatellites from the regions of PKD1 and PKD2 were selected by studying the members of these families. All members of the families were investigated by the polymorphic markers to study linkage analysis. Out of 13 families with 99 members referred by specialists, 7 families with 75 members were selected on the base of availability. Disease in three of these families showed linkage with PKD2 gene and in one family linkage was found between the disease and PKD1 gene. In another family linkage was observed with neither PKD1 nor PKD2 genes. None of the markers were informative in two of the families; therefore these families were excluded from the studies. Most of the families with polycystic kidney disease from North West of Iran, showed linkage with PKD2 gene. One of the families did not show linkage with any of the known genes. In this family, disease could be due to mutation in the third gene which remains to be identified