Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region
| Autor: | Rüschendorf, F., Fuchshuber, A., Kroiss, S., Karle, S., Berthold, S., Huck, K., Burton, C., Rahman, N., Koptides, Michael, Constantinou-Deltas, Constantinos D., Otto, E., Feest, T., Hildebrandt, F. |
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| Přispěvatelé: | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] |
| Rok vydání: | 2001 |
| Předmět: |
Yeast artificial chromosome
Male marker gene Candidate gene haplotype gene locus Transcription Genetic Genetic Linkage kidney disease Locus (genetics) Biology Medullary cystic kidney disease pedigree analysis autosomal dominant disorder Contig Mapping medullary sponge kidney Gene mapping Genetics medicine Humans controlled study human chromosome Bacteria (microorganisms) Family Health Bacterial artificial chromosome clinical article Contig Gene map adult article Linkage (Genetics) DNA gene mapping medicine.disease Polycystic Kidney Autosomal Dominant Physical Chromosome Mapping kidney failure Pedigree priority journal Haplotypes Chromosomes Human Pair 1 Female Microsatellite Repeats |
| Zdroj: | Genomics |
| Popis: | Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. Here we report on a large MCKD1 family of British origin linked to the MCKD1 locus. Haplotype analysis performed with markers spanning the previously reported critical MCKD1 region allowed for the refinement of this interval to 4 cM by definition of D1S305 as a new proximal flanking marker. Furthermore, we constructed a yeast artificial chromosome, P1-related artificial chromosome, and bacterial artificial chromosome contig of this region, which is only sparsely covered by the Human Genome Sequencing Project. This enabled us to map numerous expressed sequence tags within the critical interval. This physical and partial transcriptional map of the MCKD1 region is a powerful tool for the identification of positional and functional candidate genes for MCKD1 and will help to identify the disease-causing gene. © 2001 Academic Press. 72 278 284 Cited By :23 |
| Databáze: | OpenAIRE |
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