Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome Mark Buzza, Diane Wilson, Judy Savige Kidney.

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Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome Mark Buzza, Diane Wilson, Judy Savige Kidney International Volume 59, Issue 5, Pages 1670-1676 (May 2001) DOI: 10.1046/j.1523-1755.2001.0590051670.x Copyright © 2001 International Society of Nephrology Terms and Conditions

Figure 1 (A) Families showing segregation of hematuria with haplotypes at COL4A3/COL4A4 (JW, RC, CC, TW, and NE) and COL4A5 (JR and SS) locus (allP < 0.05). In all of these families, hematuria segregated with only one of the two candidate gene loci. Families JR and SS show segregation of hematuria with haplotypes at COL4A5 (P < 0.05). (B) Families showing segregation of hematuria with haplotypes at COL4A3/COL4A4 (AC, JK, and MS) and COL4A5 (AV, SL) locus (all P = NS). In all of these families, hematuria segregated with only one of the two candidate gene loci. A new mutation was assumed in family SL in the index case who was the mother of the two girls. Hematuria did not segregate with haplotypes at either locus in the remaining 10 families. The asterisk indicates recombination. Kidney International 2001 59, 1670-1676DOI: (10.1046/j.1523-1755.2001.0590051670.x) Copyright © 2001 International Society of Nephrology Terms and Conditions

Figure 1 (A) Families showing segregation of hematuria with haplotypes at COL4A3/COL4A4 (JW, RC, CC, TW, and NE) and COL4A5 (JR and SS) locus (allP < 0.05). In all of these families, hematuria segregated with only one of the two candidate gene loci. Families JR and SS show segregation of hematuria with haplotypes at COL4A5 (P < 0.05). (B) Families showing segregation of hematuria with haplotypes at COL4A3/COL4A4 (AC, JK, and MS) and COL4A5 (AV, SL) locus (all P = NS). In all of these families, hematuria segregated with only one of the two candidate gene loci. A new mutation was assumed in family SL in the index case who was the mother of the two girls. Hematuria did not segregate with haplotypes at either locus in the remaining 10 families. The asterisk indicates recombination. Kidney International 2001 59, 1670-1676DOI: (10.1046/j.1523-1755.2001.0590051670.x) Copyright © 2001 International Society of Nephrology Terms and Conditions