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Results for “Genomic testing”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

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At least 1,351 records · Page 75Linked to original sources
PubMed2001

Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred.

The incomplete penetrance of thrombosis in familial protein C deficiency suggests disease occurs when this deficit is combined with additional abnormalities in the hemostatic system. The pattern of inherited thrombophilia in the Vermont II kindred, which is affected by a clinically dominant type I protein C deficiency, provides strong evidence for a second unidentified gene that segregates independently of protein C deficiency and increases susceptibility to thrombosis. To test the second gene hypothesis, thirty-four candidate genes for proteins involved in hemostasis or inflammation were tested as the unknown defect, using highly polymorphic short tandem repeat (STR) markers in an informative subset (n = 31) of the kindred. The genes considered are; alpha-fibrinogen, beta-fibrinogen, gamma-fibrinogen, prothrombin, tissue factor, factor V, protein S, complement component 4 binding protein, factor XI, factor XII, factor XIIIa, factor XIIIb, histidine rich glycoprotein, high molecular weight kininogen, kallikrein, von Willebrands factor, platelet factor 4, thrombospondin, antithrombin III, alpha-1-antitrypsin, thrombomodulin, plasminogen, tissue plasminogen activator, urokinase plasminogen activator, plasminogen activator inhibitor-1, plasminogen activator inhibitor-2, protein C inhibitor, alpha-2-plasmin inhibitor, kallistatin, lipoprotein a, interleukin 6, interleukin 1, cystathionine-beta-synthase, and methylenetetrahydrofolate reductase. Mutations in many of these genes have been previously established as independent risk factors for thrombosis. However, linkage analysis provided no evidence to implicate any of the candidate genes as the second inherited factor that promotes thrombophilia in this kindred.

Blood Coagulation Factors↗
PubMed2001

Genes, work and health.

Explore the source record for details and available documents.

Genetic Predisposition to Disease↗
PubMed2002

Analysis of associations of PIT1 genotypes with growth, meat quality and carcass composition traits in pigs.

PIT1 was chosen as a candidate gene to investigate its associations with growth, meat quality and carcass composition traits in the pig. PIT1 is known as the pituitary-specific activator of the growth hormone in several mammals. Furthermore, PIT1 is a positive regulatory factor of prolactin and thyroid-stimulating hormone beta. PIT1 is a member of the POU-domain family of genes and is located on porcine chromosome 13. Two informative three-generation families of the University of Hohenheim were used for the presented investigations. The families were based on crosses of the European Wild boar (W) x Pietrain (P) and Meishan (M) x Pietrain (P). Each family included 310 F(2) animals. A RsaI (PCR) RFLP described by Yu et al. (1994) was used for genotyping the animals. Altogether over 50 parameters of growth, meat quality, carcass composition and stress susceptibility were evaluated concerning their associations with RsaI PCR-RFLP. The statistical model of association analyses was used including fixed effects of sex, family, PIT1 genotypes and covariate age at slaughter. Taking the significance level of p < 0.05 as the basis, fourteen traits of growth and carcass composition were associated with PIT1 genotypes in family W x P. Results from this study suggest that there are contributions of PIT1 gene to variations in the analysed performance traits in pigs. The influence of PIT1 genotypes could not be confirmed under the supposition of a genome-wide test limit.

Animals↗
PubMed1992

Biochemical and genetic dissection of the Saccharomyces cerevisiae RNA polymerase C53 subunit through the analysis of a mitochondrially mis-sorted mutant construct.

RPC53 has previously been shown to encode an essential subunit required for tRNA gene transcription by RNA polymerase C in vivo (Mann, C., Micouin, J.-Y., Chiannilkulchai, N., Treich, I., Buhler, J.-M., and Sentenac, A. (1992) Mol. Cell. Biol. 12, in press). In this paper, we have determined that an unusual rho+ lethality associated with the rpc53::HIS3-1 disruption mutation is due to the inadvertent formation of a Pet56-C53 fusion protein. This fusion protein is missorted to mitochondria, thereby reducing the quantity of the C53 subunit available for RNA polymerase C assembly. We show that the carboxyl-terminal region of C53 contains the essential functional domain of the subunit and that a mutant RNA polymerase containing only this domain is thermolabile for its function in vivo and in vitro. The thermolability of the carboxyl-terminal C53 domain is suppressed by five different genes on multicopy plasmids, including RPC160, encoding the largest subunit of RNA polymerase C and SSD1/SRK1, which has been implicated in the activity of protein phosphatases.

Alleles↗
PubMed2005

[Mapping of apple Co gene using SSR markers].

Columnar apple is an important genetic resource for tree form breeding of apple. In this study, 106 individuals of the F1 population derived from 'Spur Fuji' (coco)x 'Telamon'(Coco) were used as plant materials for screening SSR markers linked to gene. By bulked segregating analysis (BSA), eight SSR markers from the tenth linkage group of apple genome were tested. Finally, three of them, COL, CH02a10 and CH03d11, were identified to be SSR markers of Co gene. Linkage analysis showed that the genetic distance of COL, CH02a10 and CH03d11 to Co locus was 15.3cM, 22.2cM and 3.9 cM, respectively. On the linkage map of these markers, Co gene was located between COL and CH03d11.

Genetic Linkage↗
PubMed2005

[Generation of RHD-CE(2-9)-D allele by gene conversion in cis].

Previously a few Rh-negative individuals in Caucasian and Chinese were found existing exons 1 and 10 of RHD through genomic DNA testing. The molecular mechanisms, however, remain disputed. In this study, 2 individuals carrying RHD positive, D antigen negative allele (with exon 1 and 10 of RHD) and their mRNA were investigated by using reverse transcriptase PCR (RT-PCR) and sequencing through one pair of specific primers for 5'- and 3'-non-coding region of RHD, taking a Rh-positive (Ccee) sample as control. As a result, the control sample had a normal RHD mRNA, whereas other transcripts were detected in both RHD-positive, D antigen negative individuals, which have same length and exons as the normal RHD or RHCE mRNA. Those transcripts had the same sequences with RHD in exon 1 and exon 10, while the sequences in exons 2-9 were in concordance with RHCE(e) mRNA. It indicated that a hybrid RHD allele, RHD-CE(2-9)-D, was existed in the 2 individuals, in which the exons 2-9 of RHD were substituted by homologous RHCE(e). Thus, this allele could not code normal RhD protein and therefore resulted in Rh-negative phenotype.

Alleles↗