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Association studies between type 1 (insulin-dependent) diabetes and 27 genetic markers: Lack of association between type 1 diabetes and kidd blood group (1983)

Hodge, S. E. ; Anderson, C. E. ; Neiswanger, K. ; [et al.]

Springer

Diabetologia 25 (1983), S. 343-347

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ISSN: 1432-0428

Keywords: Type 1 diabetes ; Kidd blood group ; HLA ; glyoxalase ; pancreatic amylase ; galactose-1-phosphate uridyl transferase ; group-specific component ; Lewis blood group ; disease-marker associations ; two-locus inheritance

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Summary One hundred and three unrelated patients with Type 1 (insulin-dependent) diabetes were typed for HLA, properdin factor B (BF), glyoxalase1 (GLO), Kidd blood group, and 24 other genetic markers. Observed distributions of marker phenotypes among these patients were compared with those expected according to population frequencies, in an attempt to detect associations between Type 1 diabetes and the markers. Strong associations between Type 1 diabetes and both HLA and properdin factor B were confirmed, as was a lack of association between Type 1 diabetes and glyoxalase (GLO). There was an apparent deviation from Hardy-Weinberg equilibrium at the GLO locus, and statistically significant distortions in the distributions of pancreatic amylase (AMY2), galactose-1-phosphate uridyl transferase (GALT), and groupspecific component (GC) among Type 1 diabetes patients, but these results are not significant when corrected for performance of multiple tests. An increase in the Lewis-negative phenotype reported elsewhere was observed here but was not statistically significant. A distortion in the distribution of Kidd types reported elsewhere was not confirmed.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00253199

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Novel gene exon homologous to pancreatic phospholipase A2: Sequence and chromosomal mapping of both human genes (1989)

Seilhamer, J. J. ; Randall, T. L. ; Johnson, L. K. ; [et al.]

New York, N.Y. : Wiley-Blackwell

Journal of Cellular Biochemistry 39 (1989), S. 327-337

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ISSN: 0730-2312

Keywords: phospholipase A2 ; human genes ; pancreatic ; human chromosome mapping ; Life and Medical Sciences ; Cell & Developmental Biology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Biology , Chemistry and Pharmacology , Medicine

Notes: We described previously the cloning and DNA sequence of the human gene encoding pancreatic phospholipase A2 [DNA 5, 519]. When pancreatic phospholipase A2 (PLA2) cDNA was used to screen a human genomic library, two classes of clones were obtained. One class encoded the pancreatic enzyme, and a second class encoded one exon of an apparently related PLA2. No additional PLA2 gene exons displayed sufficient homology to be detected by the probe. A homologous sequence in both rat and porcine genomic DNA was detected by DNA blot hybridization, and the corresponding gene fragments were cloned and sequenced. Within the deduced amino acid sequences, the presence of known functional residues along with the high degree of interspecies conservation suggests the genes encode a functional PLA2 enzyme form. The encoded sequence lacks Cys11, as do the “type II” viperid venom and other nonpancreatic mammalian PLA2 enzymes. The sequence is distinct from porcine intestinal PLA2 and appears not to be a direct homolog of the recently published rabbit ascites and rat platelet enzymes. Hybridization of DNA probes containing sequences from these genes to genomic DNA blots of mouse/human somatic cell hybrids permitted chromosomal assignment for both. The pancreatic gene mapped to human chromosome 12, and the homologous gene mapped to chromosome 1.

Additional Material: 5 Ill.