Autosomal recessive polycystic kidney disease in an extended Newfoundland family

• Main Author: Wilkins, Laura Celeste
• Format: Dissertation
• Language: English
• Published: ProQuest Dissertations & Theses 01-01-2003
• Subjects: Genetics; Molecular biology; Pathology
• ISBN: 9780612820043; 0612820041

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary diseases in children affecting the kidneys and biliary tract. A previously identified large Newfoundland family (U1) with five ARPKD affected individuals (three of Sibship A and two of Sibship B) and another recently identified Newfoundland family (ARPKD1), which is suspected to be related to the U1 family, with one ARPKD affected individual were studied in order to identify the gene and the mutations responsible for ARPKD. When this project was started, the locus for ARPKD (PKHD1) had been mapped to chromosome 6p21.1-p12. The exon and exon boundaries of one remaining known gene; interleukin-17 (cytotoxic T-lymphocyte-associated serine esterase 8) and a pseudogene, carnitine/acylcarnitine translocase were sequenced in the U1 family and excluded as candidates for PKHD1. Using a combination of microsatellite and SNP (Single Nucleotide Polymorphism) markers, the critical region was reduced to approximately 211 Kbp. (Abstract shortened by UMI.)