2. Academic Validation
  3. Telomeric refinement of the MCKD1 locus on chromosome 1q21

Telomeric refinement of the MCKD1 locus on chromosome 1q21

  • Kidney Int. 2004 Aug;66(2):580-5. doi: 10.1111/j.1523-1755.2004.00799.x.
Matthias T F Wolf 1,  Bruno van Vlem,  Hans C Hennies,  Isabella Zalewski,  Stephanie M Karle,  Markus Puetz,  Franziska Panther,  Edgar Otto,  Arno Fuchshuber,  Norbert Lameire,  Bart Loeys,  Friedhelm Hildebrandt
Affiliations

Affiliation

  • 1 Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan 48109-0646, USA.
PMID: 15253709 DOI: 10.1111/j.1523-1755.2004.00799.x
Abstract

Background: Autosomal-dominant medullary cystic kidney disease type 1 (MCKD1) is a tubulointerstitial nephropathy that causes renal salt wasting and end-stage renal failure in the sixth decade of life. The chromosomal locus for MCKD1 was localized to chromosome 1q21 in a Cyprotic kindred. In this report we describe further refinement of the critical genetic region by a recombination in a Belgian kindred.

Methods: Clinical data and blood samples of 33 individuals from a large Belgian kindred were collected and high-resolution haplotype analysis was performed.

Results: In the Belgian kindred linkage to the MCKD1 locus on chromosome 1q21 was found with a logarithm of odds (LOD) score significant for linkage. A recombination in individual III:7 for marker D1S2624 refines the critical genetic region to 2.1 Mb. In this kindred a wide variety of clinical symptoms and age of onset of renal failure was detected.

Conclusion: We confirm the MCKD1 locus on chromosome 1q21 and show further refinement of the MCKD1 locus to 2.1 Mb. This allowed us to exclude another 17 genes as positional candidate genes.

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