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. 2001 Jan;68(1):264-8.
doi: 10.1086/316923. Epub 2000 Nov 22.

Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3

U Lichter-Konecki  1 , K W Broman, E B Blau, D S Konecki
Affiliations

Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3

U Lichter-Konecki et al. Am J Hum Genet. 2001 Jan.

Abstract

Autosomal dominant renal Fanconi syndrome is a genetic model for the study of proximal renal tubular transport pathology. We were able to map the locus for this disease to human chromosome 15q15.3 by genotyping a central Wisconsin pedigree with 10 affected individuals. After a whole-genome scan with highly polymorphic simple sequence repeat markers, a maximum LOD score of 3.01 was calculated for marker D15S659 on chromosome 15q15.3. Linkage and haplotype analysis for an additional 24 markers flanking D15S659 narrowed the interval to approximately 3 cM, with the two highest single-point LOD scores observed being 4.44 and 4.68 (for D15S182 and D15S537, respectively). Subsequently, a complete bacterial artificial chromosome contig was constructed, from the High Throughput Genomic Sequence Database, for the region bounded by D15S182 and D15S143. The identification of the gene and gene product altered in autosomal dominant renal Fanconi syndrome will allow the study of the physiology of proximal renal tubular transport.

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Figures

Figure 1
Figure 1
Pedigree of family with autosomal dominant RFS, showing haplotypes constructed for 21 markers from the 15q15-15q21 region in the second and third generations; the haplotypes of the first generation were inferred. Blackened symbols represent affected individuals, unblackened symbols unaffected individuals, and symbols with a question mark indicate individuals whose phenotype cannot be determined because they may be presymptomatic. The RFS haplotype is depicted by a green bar. ? = Unknown alleles.
Figure 2
Figure 2
Diagram of the BAC clone contig of the critical region for RFS. The markers in the region are shown in boldface above the distance line for the contig. The marker positions are shown with regard to distances within the contig (0 = telomeric end of the contig) and indicate the BAC recombinant on which each marker resides. The GenBank accession numbers for the BAC clone sequences are represented below the BAC-clone insert symbol (blackened diamonds connected by a line), in a tiling fashion, from left to right.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Center for Medical Genetics, http://research.marshfieldclinic.org/genetics/
    1. GeneMap’99, http://www.ncbi.nlm.nih.gov/genemap99/
    1. Genetic Location Database, http://cedar.genetics.soton.ac.uk/public_html/ldb.html
    1. Genome Database, The, http://www.gdb.org/
    1. High Throughput Genomic Sequence Database, http://www.ncbi.nlm.nih.gov/HTGS/ (for markers [accession numbers AC025043, AC025430, AC009996, AC02570, AC018901, AC051519, AC025580, AC015717, AC068722, AC073897, AC068714, AC01134, AC023299, AC012405, AC068716, AC073941, AC024456, AC048385, AC066615, AC019253, AC023905, AC009558, and AC012050])

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