HAPLOTYPE ANALYSIS IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

Authors
POUND SE THOMAS S SNAREY A MACNICOL AM WATSON ML PIGNATELLI PM FRISCHAUF AM HARRIS PC WRIGHT AF
Citation
Se. Pound et al., HAPLOTYPE ANALYSIS IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Journal of Medical Genetics, 32(3), 1995, pp. 208-212
Citations number
31
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
3
Year of publication
1995
Pages
208 - 212
Database
ISI
SICI code
0022-2593(1995)32:3<208:HAIAPK>2.0.ZU;2-J
Abstract
Haplotype analysis was performed in 35 autosomal dominant polycystic k idney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on c hromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. In addition, three unlinked (PKD2) families and two famil ies with potential new mutation were identified.