Genetic heterogeneity of polycystic kidney disease in Bulgaria |
| |
| Authors: | N Bogdanova B Dworniczak D Dragova V Todorov D Dimitrakov K Kalinov J Hallmayer J Horst L Kalaydjieva |
| |
| Institution: | (1) Institut für Humangenetik der Universität, Vesaliusweg 12-14, D-48149 Münster, Germany;(2) Laboratory of Molecular Pathology, University Obstetrics and Gynecology Hospital, 2 Zdrave St., 1431 Sofia, Bulgaria;(3) Clinic of Nephrology and Haemodialysis, Medical University, Pleven, Bulgaria;(4) Clinic of Nephrology and Haemodialysis, Medical University, Plovdiv, Bulgaria;(5) Department of Medical Statistics, Medical University, Sofia, Bulgaria;(6) Department of Genetics, Stanford University, Palo Alto, USA;(7) Department of Human Biology, Edith Cowan University, Joondalup Campus, 6027 WA, Australia |
| |
| Abstract: | 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 link-age 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. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
