Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene.
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Chromosome Mapping↗
Biomedical subjects
S E Pound
Publications and source records attributed to S E Pound.
Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16.
Analysis of genetic linkage data in 33 adult onset polycystic kidney (ADPKD) families was carried out using probes for the D16S85, D16S84, and D16S94 loci. The data set of 33 families shows no evidence of genetic heterogeneity since one unlinked family was previously excluded. Two point linkage analysis showed maximum likelihood values of the recombination fraction of 0.07 for ADPKD and D16S85 (lod score 18.78), 0.02 for ADPKD and D16S84 (lod score 7.55), and 0.00 for ADPKD and D16S94 (lod score 6.73). Multipoint analysis showed a maximum likelihood order of tel-D16S85-0.06-D16S84-0.02-(PKD1, D16S94)-cen with a multipoint lod score of 32.16. Analysis of rare recombinants lying close to PKD1 gave results consistent with this order.
Chromosome Mapping↗
Diffuse proliferative glomerulonephritis--how many types?
Fifty-four biopsies of diffuse proliferative glomerulonephritis were subdivided into two groups, diffuse endocapillary proliferative glomerulonephritis (DEPGN) and mesangial proliferative glomerulonephritis (MPGN) according to current morphological criteria. The two groups were then compared by light microscopy, cell counting techniques, electron microscopy, immunofluorescence or immunoperoxidase techniques, and a clinical survey. The results show that DEPGN differs from MPGN in only three points: (1) the former has a greater degree of mesangial proliferation, (2) the former has a less favourable short-term prognosis and (3) large subepithelial deposits (humps) are much more common in DEPGN than in MGPN (in this series no MPGN cases showed such deposits), while small dark deposits are present in or on the glomerular capillary basement membrane in more cases of MPGN than of DEPGN. It is proposed that biopsies showing diffuse proliferation of mesangial cells should be classified as diffuse proliferative glomerulonephritis of a mild, moderate or severe degree, as the current classification has been interpreted as implying separate aetiologies and suggests that these are two distinct disease entities.
Biopsy↗