Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma.
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Adenoma↗
Biomedical subjects
J Wirth
Publications and source records attributed to J Wirth.
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
The nail patella syndrome (NPS1) is an autosomal dominant disorder characterised by dysplasia of the finger nails and skeletal abnormalities. NPS1 has been mapped to 9q34, to a 1 cM interval between D9S315 and the adenylate kinase gene (AK1). We have mapped the breakpoints within the candidate NPS1 region in two unrelated patients with balanced translocations. One patient [46,XY,t(1;9)(q32.1;q34)] was detected during a systematic survey of old cytogenetic files in Denmark and southern Sweden. The other patient [46,XY,t(9;17)(q34.1;q25)] was reported previously. D9S315 and AK1 were used to isolate YACs, from which endclones were used to isolate PACs. Two overlapping PAC clones span the 9q34 breakpoints in both patients, suggesting that NPS1 is caused by haploinsufficiency due to truncation or otherwise inactivation of a gene at or in the vicinity of the breakpoints.
Chromosome Fragility↗
The anemia in continuous ambulatory peritoneal dialysis patients is related to Kt/V index.
Anemia in chronic renal failure causes a number of serious problems to the patient. As a result, it is imperative to make use of all rational options to alleviate it. The present study addresses the question, the answer to which is not yet known, whether or not the degree of anemia depends on the efficacy of continuous ambulatory peritoneal dialysis (CAPD) and, if so, what the importance of peritoneal clearance and residual renal function is. A significant correlation between the hematocrit (Hct) and the total weekly Kt/V index (tKt/V) (r = 0.61, p<0.01), total weekly creatinine clearance (tCLCR) (r = 0.50, p<0.05), and residual glomerular filtration rate (r = 0.43, p<0.05) was demonstrated in a group of 22 CAPD patients. Stepwise regression analysis showed that of all the variables monitored, Hct depends exclusively on tKt/V (p<0.01, r2 = 0.37). The value of Hct in a group of patients with a tKt/V <2.3 (n = 15) was 28.9+/-1.2% (arithmetic mean +/- SEM) while in a group with a tKt/V > or =2.3 (n = 7), it was 35.1+/-1.9% (p<0.01). On dividing tKt/V and tCLCR into their peritoneal and renal components, a significant correlation between Hct and renal Kt/V (r = 0.47, p<0.05) was found; stepwise regression analysis identified renal Kt/V (p<0.01) and peritoneal Kt/V (p<0.05), with R2 = 0.38 as major variables with an effect on Hct. The authors conclude the efficacy of blood purification is another factor affecting renal anemia in CAPD patients. The relationship between anemia and blood purification is best expressed using the Kt/V index. The Kt/V provided by one's own kidneys seems to be of greater importance for anemia than the Kt/V provided by peritoneal dialysis. The results provide the basis for prospective interventional studies.
Adult↗
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.
Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs, on average one per 3 cM, spaced over the entire human genome. By fluorescence in situ hybridisation (FISH), we have performed a systematic search for YACs spanning translocation breakpoints. Patients with DBCRs and either syndromic or non-syndromic mental retardation (MR) were ascertained through the Mendelian Cytogenetics Network (MCN), a collaborative effort of, at present, 270 cytogenetic laboratories throughout the world. In this pilot study, we have characterised 10 different MR associated chromosome regions delineating candidate regions for MR. Five of these regions are narrowed to breakpoint spanning YACs, three of which are located on chromosomes 13q21, 13q22, and 13q32, respectively, one on chromosome 4p14, and one on 6q25. In two out of six DBCRs, we found cytogenetically cryptic deletions of 3-5 Mb on one or both translocation chromosomes. Thus, cryptic deletions may be an important cause of disease in seemingly balanced chromosome rearrangements that are associated with a disease phenotype. Our region specific FISH probes, which are available to MCN members, can be a powerful tool in clinical cytogenetics and positional cloning.
Adolescent↗
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier.
Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of the nails and patella, decreased mobility of the elbow, iliac horns and in some cases nephropathy. Linkage studies have localized the NPS locus to chromosome 9q34 within a 1-2 cM interval between D9S60 and the adenylate kinase gene (AK1), but the gene has remained elusive. We have identified a balanced t(9;17)(q34.1;q25) associated with NPS. By using FISH with probes from 9q the breakpoint region was narrowed to a 17.0 cM interval between D9S262 and ABL, which includes the NPS critical region. The patient showed the typical clinical features of NPS such as hypoplastic, deep-set nails, a dislocated elbow, iliac horns, and a polygonal patella. This suggests that the translocation has resulted from a break within or near the NPS gene, causing defective expression. The translocation in our patient may aid in the identification of the NPS gene.
Chromosome Painting↗
The effects of a polyacrylonitrile membrane and a membrane made of regenerated cellulose on the plasma concentrations of erythropoietin during hemodialysis.
In vitro studies have shown that some dialysis membranes significantly adsorb erythropoietin (EPO), a fact that might have an effect on anemia in long-term hemodialysis (HD) patients and on anemia treatment with recombinant human EPO. The purpose of the study was to determine whether the ability of adsorption demonstrated in vitro also has an effect on EPO concentrations in vivo. In a crossover study, the plasma concentrations of EPO were examined in 11 patients on chronic HD during HD using a polyacrylonitrile (AN69) membrane (high in vitro adsorption) plus EPO administered subcutaneously after the HD session, HD using a Cuprophan membrane (low in vitro adsorption) plus EPO administered subcutaneously after the HD session, HD using an AN69 membrane plus EPO administered subcutaneously after the HD session plus EPO administered intravenously immediately before HD, or HD using a Cuprophan membrane plus EPO administered subcutaneously after the HD session plus EPO intravenously immediately before HD. The intradialysis plasma concentrations of EPO (not detectable in the dialysate) determined at the dialyzer inlet and outlet at Minutes 5 and 240 of the procedure did not differ significantly after its subcutaneous administration from its predialysis concentrations with either the Cuprophan or AN69 membrane. A comparison of EPO concentrations between AN69 and Cuprophan did not reveal marked differences either. The course of concentrations after additional EPO intravenous administration was similar with no statistically demonstrable difference between the 2 membranes. In conclusion, under clinical conditions, AN69 and Cuprophan membranes do not differ in their effects on plasma EPO concentrations. The differences in EPO adsorption between AN69 and Cuprophan, demonstrated in vitro, do not seem to be of clinical importance.
Acrylic Resins↗
Not para-, not peri-, but centric inversion of chromosome 12.
A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodicentric chromosome. Further FISH analyses using telomeric and subtelomeric probes showed that the other breakpoint was in the subtelomeric region of the short arm. The karyotype is designated 47,XXY,inv(12)(p10p13.3). To our knowledge this is the first report of a case of "centric inversion".
Adult↗
Sequence determination and molecular characterization of gigantin, a cytotoxic protein produced by the mould Aspergillus giganteus IFO 5818.
Gigantin is a 17-kDa ribonuclease secreted by Aspergillus giganteus IFO 5818. The sequence of the genomic DNA coding for this protein is reported. The deduced amino acid sequence reveals nine amino acid variations with respect to alpha-sarcin, a well-characterized ribosome-inactivating protein from A. giganteus MDH 18894. The peptides obtained after tryptic digestion of reduced and carboxyamidomethylated gigantin have been chromatographically separated. The analysis of these peptides in comparison to those originating from alpha-sarcin corroborates the above sequence differences. These do not sensibly modify the conformation of the protein, based on the coincidence of the circular dichroism and fluorescence emission spectra of the two proteins. The obtained results are discussed in terms of the involvement of the distinctive residues in the immunological and catalytic properties that distinguish gigantin from alpha-sarcin.
Amino Acid Sequence↗
Research competencies in the dietetics curricula.
Investment in dietetics research has the potential to improve general health; increase work performance and learning capacity; extend disease-free life; reduce birth defects, infections, and chronic diseases; and decrease health care costs. Opportunities exist for research in the areas of solid waste management, global environment, health care reform, and foodservice systems management. Research efforts can focus on cost-effectiveness and medical efficacy of dietary services to improve third-party reimbursement. Educators have a stake in creating the future by conducting research, teaching research to dietetic students, and investigating the effectiveness of education.
Clinical Competence↗
A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3.
A somatic cell hybrid panel was constructed consisting of seven hybrids with translocation breakpoints spanning the region 17q23-->q25. Hybrid clones carrying the longarm derivative of chromosome 17 in the absence of the normal chromosome 17 and of the derivative 17 were initially identified by PCR typing for a proximal and distal 17q marker. The translocation breakpoints of the hybrids were then mapped in more detail by PCR analysis for a number of microsatellite markers from chromosome 17q as well as for five gene loci (CACNLG, GH1, SOX9, TIMP2, TK1) previously mapped to the region 17q23-->q25. In addition, the locus for GDIA1 was mapped by FISH to 17q25.3 and fine mapped with the help of the hybrid panel. These seven new hybrids complement the existing somatic cell hybrid panel for the long arm of chromosome 17q.
Animals↗
Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes.
We have generated a human subtelomere probe panel, utilizing well characterized CEPH YACs, for the investigation of human chromosome pathology and evolution through fluorescent in situ hybridization (FISH). Region-specific FISH probes will be extremely valuable for detecting cytogenetically cryptic telomere abnormalities. Here, we present the first comparative mapping study (with 29 subtelomere probes and 6 chromosome paints) to the Old World monkey Presbytis cristata, followed by hybridizations to the great apes, gorilla and orangutan, when rearrangements were detected. We observed that the position of telomere-associated genomic sequences has been only moderately conserved during primate evolution. YAC 364f9, specific for the subtelomeric long arm of human chromosome 3, contains an evolutionary inversion breakpoint that was involved in independent chromosome rearrangements in P. cristata and gorilla.
Animals↗
Identification of positional candidates for neurological disorders on chromsome 13q14-->q22.
In the course of a research project aimed at the molecular characterization of balanced chromosome rearrangements associated with mental retardation (MR), several YACs spanning MR-associated chromosomal rearrangements in the 13q14-->q22 region were identified. To facilitate the search for relevant candidate genes, we have analyzed a total of 102 EST clones from this region. Sequence comparisons revealed that these 102 clones represent up to 72 distinct transcripts. When no physical mapping data were available, a minimal YAC contig was screened for each unique transcript by the polymerase chain reaction (PCR) or hybridization. Fifty-eight independent ESTs could be localized to YAC clones between the markers D13S1248 and D13S1201. Several ESTs are located on YAC clones detecting chromosomal rearrangements in MR patients. One EST was mapped within the critical region for Rieger syndrome type 2, and three transcripts were identified in the region for the nocturnal enuresis type 1. Some ESTs showed homologies to known genes, including the cadherin-related tumor suppressor gene from Drosophila, the yeast mitotic control protein DIS3, and the human alpha-2-macroglobulin receptor associated protein.
Chromosome Aberrations↗
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
Campomelic dysplasia (CMPD1) and autosomal XY sex reversal (SRA1) are caused by mutations in the SRY-related gene SOX9 on 17q. Unexpectedly, the 17q breakpoints in four CMPD1 translocation cases previously analyzed by us and others map 50 kb or more from SOX9. Here, we present clinical, cytogenetic, and molecular data from a new CMPD1/SRA1 patient with t(6;17)(q14;q24). Fluorescence in situ hybridization has shown that the 17q breakpoint in this case maps to the same region as the breakpoints in the other translocation cases, at least 130 kb from SOX9. Likewise, the breakpoints in two of the previously described cases also map more than 130 kb and, as shown by pulsed field gel electrophoresis analysis, at most 400 kb or 690 kb from SOX9. By using a SOX9 coding sequence polymorphism, expression of both SOX9 alleles has been demonstrated by the reverse transcriptase polymerase chain reaction in lymphoblastoid cells from one of the translocation cases.
Alleles↗
SOX20, a new member of the SOX gene family, is located on chromosome 17p13.
SOX genes share a high sequence identity with the HMG box present in the testis determining gene SRY. We have identified a HMG box-like sequence motif on six contiguous cosmids, which cross-hybridize to a SOX9 cDNA probe. A data base search revealed a high similarity of the deduced amino acid sequence to the human SOX12 and the murine Sox16 HMG domains. The cosmids were assigned to chromosome 17p13 by FISH analysis.
Amino Acid Sequence↗
Interactive operation planning and control with VIRIM.
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Algorithms↗
LAR-PTPase cDNA transfection suppression of tumor growth of neu oncogene-transformed human breast carcinoma cells.
The incidence of amplification of neu oncogene-encoded protein tyrosine kinase in human breast cancer strongly supports the concept that protein tyrosine phosphorylation and dephosphorylation are key regulatory mechanisms in the proliferation, differentiation, and neoplastic transformation of breast epithelial cells. We examined the potential regulatory role of protein tyrosine phosphatases (PTPases) in the maintenance of cellular tyrosine phosphorylation by the introduction of leukocyte common-antigen-related PTPase (LAR-PTPase) cDNA into a tumorigenic human breast carcinoma cell line that overexpressed p185neu protein tyrosine kinase. The transfected human breast carcinoma cells expressed elevated levels of LAR-PTPase as assessed by reverse transcription-polymerase chain reaction and by analysis of LAR-PTPase protein. The LAR-PTPase-transfected human breast carcinoma cells had a significantly (P < 0.01) slower proliferation rate in vitro than control-transfected cells. When LAR-PTPase-transfected cells were inoculated into athymic nude mice, a consistent and significant (P < 0.05) suppression of tumor growth was observed. These results provide evidence that a specific PTPase, LAR-PTPase, can play a suppressive regulatory role in the tumor growth of human breast carcinoma cells that overexpress p185neu protein tyrosine kinase.
Animals↗
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.
A human autosomal XY sex reversal locus, SRA1, associated with the skeletal malformation syndrome campomelic dysplasia (CMPD1), has been placed at distal 17q. The SOX9 gene, a positional candidate from the chromosomal location and expression pattern reported for mouse Sox9, was isolated and characterized. SOX9 encodes a putative transcription factor structurally related to the testis-determining factor SRY and is expressed in many adult tissues, and in fetal testis and skeletal tissue. Inactivating mutations on one SOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency for SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal. The 17q breakpoints in three CMPD1 translocation cases map 50 kb or more from SOX9.
Amino Acid Sequence↗
Investigation of the PMN chemotaxis in periodontal disease.
The chemotactic responses of peripheral polymorphonuclear leukocytes in 36 patients with rapidly progressive periodontitis (RPP) were compared to responses in 15 patients with localized juvenile periodontitis (LJP) and 10 patients with adult periodontitis (AP). In the RPP group, 13 (36%) patients exhibited reduced chemotactic activity and 7 (19%) exhibited activity. Compared to this, 12 (80%) of the LJP patients displayed reduced chemotactic activity. Among the AP-patients 4 (40%) showed altered chemotactic activity including 1 (10%) with reduced chemotactic activity and 3 (30%) with increased activity. These results suggest that depressed chemotaxis is greatest in LJP, intermediate in RPP and least in AP.
Adolescent↗