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Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28 总被引:20,自引:0,他引:20
Taillon-Miller P Bauer-Sardiña I Saccone NL Putzel J Laitinen T Cao A Kere J Pilia G Rice JP Kwok PY 《Nature genetics》2000,25(3):324-328
Linkage disequilibrium (LD), or the non-random association of alleles, is poorly understood in the human genome. Population genetic theory suggests that LD is determined by the age of the markers, population history, recombination rate, selection and genetic drift. Despite the uncertainties in determining the relative contributions of these factors, some groups have argued that LD is a simple function of distance between markers. Disease-gene mapping studies and a simulation study gave differing predictions on the degree of LD in isolated and general populations. In view of the discrepancies between theory and experimental observations, we constructed a high-density SNP map of the Xq25-Xq28 region and analysed the male genotypes and haplotypes across this region for LD in three populations. The populations included an outbred European sample (CEPH males) and isolated population samples from Finland and Sardinia. We found two extended regions of strong LD bracketed by regions with no evidence for LD in all three samples. Haplotype analysis showed a paucity of haplotypes in regions of strong LD. Our results suggest that, in this region of the X chromosome, LD is not a monotonic function of the distance between markers, but is more a property of the particular location in the human genome. 相似文献
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K. M. Heinonen V. Kataja M. Laitinen 《Cellular and molecular life sciences : CMLS》1984,40(12):1439-1440
Summary A dose of soy bean fat emulsion which was injected i.v. in suckling rats accumulated in the cells of liver parenchyma, both in hepatocytes and in reticuloendothelial cells. Subsequent i.p. injection ofE. coli endotoxin was followed by extensive liver tissue necrosis and increased activities of serum aspartic and alanine aminotransferase. These signs of liver damage were markedly more pronounced than those observed after the administration ofE. coli endotoxin only. 相似文献
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Laitinen OH Hytönen VP Nordlund HR Kulomaa MS 《Cellular and molecular life sciences : CMLS》2006,63(24):2992-3017
Chicken avidin and bacterial streptavidin, (strept)avidin, are proteins widely utilized in a number of applications in life
science, ranging from purification and labeling techniques to diagnostics, and from targeted drug delivery to nanotechnology.
(Strept)avidin-biotin technology relies on the extremely tight and specific affinity between (strept)avidin and biotin (dissociation
constant, Kd≈10−14–10−16 M). (Strept)avidins are also exceptionally stable proteins. To study their ligand binding and stability characteristics,
the two proteins have been extensively modified both chemically and genetically. There are excellent accounts of this technology
and chemically modified (strept)avidins, but no comprehensive reviews exist concerning genetically engineered (strept)avidins.
To fill this gap, we here go through the genetically engineered (strept)avidins, summarizing how these constructs were designed
and how they have improved our understanding of the structural and functional characteristics of these proteins, and the benefits
they have provided for (strept)avidin-biotin technology.
Received 22 June 2006; received after revision 1 August 2006; accepted 21 September 2006 相似文献
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A dose of soy bean fat emulsion which was injected i.v. in suckling rats accumulated in the cells of liver parenchyma, both in hepatocytes and in reticuloendothelial cells. Subsequent i.p. injection of E. coli endotoxin was followed by extensive liver tissue necrosis and increased activities of serum aspartic and alanine aminotransferase. These signs of liver damage were markedly more pronounced than those observed after the administration of E. coli endotoxin only. 相似文献
5.
Laitinen T Daly MJ Rioux JD Kauppi P Laprise C Petäys T Green T Cargill M Haahtela T Lander ES Laitinen LA Hudson TJ Kere J 《Nature genetics》2001,28(1):87-91
The genetics of asthma and atopy have been difficult to determine because these diseases are genetically heterogeneous and modified by environment. The pedigrees in our study (n=86) originate in eastern central Finland (Kainuu province). According to census records, this region had only 200 households (2,000 inhabitants) in the mid sixteenth to mid seventeenth centuries. The current population of 100,000 represents the expansion of these founders within the past 400 years. Because this population is relatively homogeneous, we hypothesized that the molecular genetic mechanisms underlying asthma might also have reduced heterogeneity and therefore be easier to dissect than in mixed populations. A recent twin family study supported a strong genetic component for asthma in Finland. We carried out a genome-wide scan for susceptibility loci in asthma in the Kainuu subpopulation. We identified two regions of suggestive linkage and studied them further with higher-density mapping. We obtained evidence for linkage in a 20-cM region of chromosome 7p14-p15 for three phenotypes: asthma, a high level of immunoglobulin E (IgE; atopy) and the combination of the phenotypes. The strongest linkage was seen for high serum IgE (non-parametric linkage (NPL) score 3.9, P=0.0001), exceeding the threshold for genome-wide significance based on simulations. We also observed linkage between this locus and asthma or atopy in two independent data sets. 相似文献
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Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner 总被引:43,自引:0,他引:43
Galloway SM McNatty KP Cambridge LM Laitinen MP Juengel JL Jokiranta TS McLaren RJ Luiro K Dodds KG Montgomery GW Beattie AE Davis GH Ritvos O 《Nature genetics》2000,25(3):279-283
Multiple ovulations are uncommon in humans, cattle and many breeds of sheep. Pituitary gonadotrophins and as yet unidentified ovarian factors precisely regulate follicular development so that, normally, only one follicle is selected to ovulate. The Inverdale (FecXI) sheep, however, carries a naturally occurring X-linked mutation that causes increased ovulation rate and twin and triplet births in heterozygotes (FecXI/FecX+; ref. 1), but primary ovarian failure in homozygotes (FecXI/FecXI; ref. 2). Germ-cell development, formation of the follicle and the earliest stages of follicular growth are normal in FecXI/FecXI sheep, but follicular development beyond the primary stage is impaired. A second family unrelated to the Inverdale sheep also has the same X-linked phenotype (Hanna, FecXH). Crossing FecXI with FecXH animals produces FecXI/FecXH infertile females phenotypically indistinguishable from FecXI/FecXI females. We report here that the FecXI locus maps to an orthologous chromosomal region syntenic to human Xp11.2-11.4, which contains BMP15, encoding bone morphogenetic protein 15 (also known as growth differentiation factor 9B (GDF9B)). Whereas BMP15 is a member of the transforming growth factor beta (TGFbeta) superfamily and is specifically expressed in oocytes, its function is unknown. We show that independent germline point mutations exist in FecXI and FecXH carriers. These findings establish that BMP15 is essential for female fertility and that natural mutations in an ovary-derived factor can cause both increased ovulation rate and infertility phenotypes in a dosage-sensitive manner. 相似文献
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