Genetic heterogeneity of polycystic kidney disease in Bulgaria

• Published in: Human genetics Vol. 95; no. 6; p. 645
• Main Authors: Bogdanova, N, Dworniczak, B, Dragova, D, Todorov, V, Dimitrakov, D, Kalinov, K, Hallmayer, J, Horst, J, Kalaydjieva, L
• Format: Journal Article
• Language: English
• Published: Germany 01.06.1995
• Subjects: Adult; Bulgaria - epidemiology; Data Collection; Female; Genetic Heterogeneity; Genetic Markers; Humans; Lod Score; Male; Middle Aged; Phenotype; Polycystic Kidney, Autosomal Dominant - epidemiology; Polycystic Kidney, Autosomal Dominant - etiology; Polycystic Kidney, Autosomal Dominant - genetics; Polymorphism, Restriction Fragment Length; Proteins - genetics; Recombination, Genetic; TRPP Cation Channels; Bulgaria
• ISSN: 0340-6717
• DOI: 10.1007/BF00209481

Linkage analysis was performed on 22 Bulgarian families with polycystic kidney disease (PKD) ascertained through the hemodialysis centers of two medical schools. A total of 128 affected and 59 unaffected individuals, and 54 spouses have been investigated using eight polymorphic markers linked to PKD1 and nine markers to PKD2. The results demonstrate locus heterogeneity with 0.67 as the maximum likelihood value of alpha, i.e., the proportion of families linked to PKD1. In five families, the results suggest linkage to PKD2 and observed recombinants place the gene between loci D4S1544 and D4S1542. In one family, two double recombinants for closely linked markers on chromosome 16 and on chromosome 4 give evidence for the lack of linkage to either PKD1 or PKD2, thus suggesting the involvement of a third locus. Analysis of clinical data in the PKD1 group versus the unlinked group shows no significant differences in the severity of the disease.