MAPPING OF THE GENE FOR AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE(ARPKD) TO CHROMOSOME 6P21-CEN

Autosomal recessive polycystic kidney disease (ARPKD) is one of the ma jor hereditary nephropathies in children predominantly presently in ea rly childhood. The clinical picture is variable but there is a fatal o utcome in many cases. We have performed linkage analysis in 16 ARPKD f amilies and localized the ARPKD gene to chromosomal region 6p21-cen wi th no evidence for genetic heterogeneity among different clinical phen otypes. Linkage was confirmed using six adjacent microsatellite marker s and the highest rod score of 7.42 was obtained with D6S272 at theta= 0.00. Our findings should lead to more accurate forms of prenatal diag nosis than those currently available using ultrasound.