Benign familial hematuria (BFH: MIM141200) is an autosomal-dominant disease accounting for one-fifth of at I hematuria of unknown cause in children. Previous observations suggest that BFH may be allelic to recessive Alport syndrome (AS: MIM 203780) with a mutation in the COL4A3/COL4A4 locus. However, it is not clear whether all cases of BFH are due to heterozygous mutation of COL4A3/COL4A4 genes. We report here the exclusion of linkage between BFH and CO L4A3/COL4A4 loci at 2q35-37 in a restricted population from Sicily (Italy), Total lod score is -9.6 at theta 0. Furthermore, in some cases exclusion of linkage is evident even considering single families. We conclude that BFH is genetically heterogeneous.
Evidence for genetic heterogeneity in benign familial hematuria
CASARI , GIORGIO NEVIO;
1999-01-01
Abstract
Benign familial hematuria (BFH: MIM141200) is an autosomal-dominant disease accounting for one-fifth of at I hematuria of unknown cause in children. Previous observations suggest that BFH may be allelic to recessive Alport syndrome (AS: MIM 203780) with a mutation in the COL4A3/COL4A4 locus. However, it is not clear whether all cases of BFH are due to heterozygous mutation of COL4A3/COL4A4 genes. We report here the exclusion of linkage between BFH and CO L4A3/COL4A4 loci at 2q35-37 in a restricted population from Sicily (Italy), Total lod score is -9.6 at theta 0. Furthermore, in some cases exclusion of linkage is evident even considering single families. We conclude that BFH is genetically heterogeneous.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
