Telomeric refinement of the MCKD1 locuson chromosome 1q21*

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Telomeric refinement of the MCKD1 locuson chromosome 1q21* Matthias T.F. Wolf, 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 Kidney International Volume 66, Issue 2, Pages 580-585 (August 2004) DOI: 10.1111/j.1523-1755.2004.00799.x Copyright © 2004 International Society of Nephrology Terms and Conditions

Figure 1 Pedigree of the Belgian MCKD1 kindred. Circles denote females, squares denote males. Filled symbols denote 11 individuals affected by MCKD1, crosshatches denote deceased individuals, and question marks indicate that these indivduals are too young to exclude the diagnosis of MCKD. Roman numerals denote generations. Kidney International 2004 66, 580-585DOI: (10.1111/j.1523-1755.2004.00799.x) Copyright © 2004 International Society of Nephrology Terms and Conditions

Figure 2 Results of the haplotype analysis of 18 markers at the MCKD1 locus in 16 individuals from the Belgian MCKD1 kindred. Circles denote females, squares denote males. Filled symbols denote affected individuals. Arrows denote individuals in whom DNA was available for haplotype analysis. Inferred haplotypes are shown in parenthesis. Differently shaded bars symbolize haplotypes. Paternal haplotypes are drawn to the left, maternal haplotypes to the right. Marker positions are indicated with left individuals. Assignment of the disease associated haplotype to I:2 is arbitrary. The black haplotype showed complete cosegregation with the phenotype in all six living affected individuals of this kindred (data not shown). The question marks in individuals IV:6 – IV:8 indicate that these persons are too young to exclude the diagnosis of MCKD. Note the recombination event in individual III:7, which identifies marker D1S2624 as a new telomeric flanking marker. The thin line in the left haplotype of individual III:7 shows the uninformative region, which makes it impossible to distinguish between the black and the white haplotype. Kidney International 2004 66, 580-585DOI: (10.1111/j.1523-1755.2004.00799.x) Copyright © 2004 International Society of Nephrology Terms and Conditions