Volume 64, Issue 3, Pages (September 2003)

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Volume 64, Issue 3, Pages 788-792 (September 2003) Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing Matthias T.F. Wolf, Stephanie M. Karle, Stella Schwarz, Mathias Anlauf, Manfred Anlauf, Lisa Glaeser, Sabine Kroiss, Chris Burton, Terry Feest, Edgar Otto, Arno Fuchshuber, Friedhelm Hildebrandt Kidney International Volume 64, Issue 3, Pages 788-792 (September 2003) DOI: 10.1046/j.1523-1755.2003.00161.x Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 1 Haplotyping results from the Arizona kindred (F284) used for initial description of MCKD, the Welsh kindred (F327) used to refine MCKD1 to <3.3Mb. Paternal haplotypes are drawn to the left, maternal haplotypes to the right. Marker order from top to bottom is: cen – D1S514 – D1S498 – D1S137P24e* – D1S305 – D1S98F1a* – D1S21N7c – D1S29H23g* – D1S29H23e* – D1S29H23c* – D1S1595/S2140 – D1S243J18b* – D1S303 – D1S243J18c* – D1S336K24g* – D1S336K24f* – D1S336K24c* – D1S336K24h* – D1S336K24a* – D1S2624 – D1S284F21e* – D1S356J7e* – D1S85G21d* – D1S394 – D1S2125 – D1S2635 – tel. Newly generated markers are denoted by asterisks; former flanking markers are underlined; and novel flanking markers are encased in boxes. Haplotypes of the genetic markers are shown as differently colored bars. There is consistent haplotype sharing for 9 markers (black bars) among all 18 affected individuals of all 3 kindred. For 6 to 7 additional surrounding markers, partial haplotype sharing (gray bars) among some kindred is shown (see also Fig. 2). Black symbols indicate individuals with affected status, white symbols indicate individuals with unaffected or unknown status, the latter due to age-dependant penetrance of MCKD1. Circles denote females; squares denote males; a slash through a symbol denotes a deceased individual; and arrows point out individuals in Figure 2 who have been tested in mutational analysis for RhBG. Inferred alleles are shown in parentheses. Kidney International 2003 64, 788-792DOI: (10.1046/j.1523-1755.2003.00161.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 2 Refinement of the MCKD1 locus by demonstration of haplotype sharing; cloning of the critical region in a BAC contig. (A) Haplotypes cosegregating with the affected status of patients (indicated by arrows in Figure 1) from the 3 MCKD1 kindred (indicated at top). The haplotype of 9 consecutive markers shared by all affected members of the 9 MCKD1 families is shown on a black background. The partially shared haplotype of 6 to 7 additional surrounding markers is shown on a gray background. The centromere is at the top, the telomere is at the bottom. (B) Twenty-five microsatellite markers at the MCKD1 locus. Newly generated markers are denoted by asterisks. Markers flanking the published 3.3Mb interval (8) are underlined. Newly defined flanking markers delimiting the haplotype shared in MCKD1 (A) are shown in boxes. (C) Allele frequencies of 9 markers from shared haplotypes as determined in at least 58 chromosomes of healthy control individuals are indicated as absolute numbers and as percentages in parentheses. (D) Minimal BAC contig of the critical MCKD1 region. BAC sizes are given inkb. Physical map positions (12) of newly defined flanking markers D1S21N7c and D1S336K24c are 153,176kb and 153,778kb, respectively, thus refining the critical MCKD1 interval to <650kb. Kidney International 2003 64, 788-792DOI: (10.1046/j.1523-1755.2003.00161.x) Copyright © 2003 International Society of Nephrology Terms and Conditions