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1.
Yamazaki K Takazoe M Tanaka T Ichimori T Saito S Iida A Onouchi Y Hata A Nakamura Y 《Journal of human genetics》2004,49(12):664-668
Crohn disease (CD) is an inflammatory bowel disease characterized by chronic transmural, segmental, and typically granulomatous inflammation of the gut. Recently, two novel candidate gene loci associated with CD, SLC22A4 and SLC22A5 on chromosome 5 known as IBD5 and DLG5 on chromosome 10, were identified through association analysis of Caucasian CD patients. We validated these candidate genes in Japanese patients with CD and found a weak but possible association with both SLC22A4 (P=0.028) and DLG5 (P=0.023). However, the reported genetic variants that were indicated to be causative in the Caucasian population were completely absent in or were not associated with Japanese CD patients. These findings imply significant differences in genetic background with CD susceptibility among different ethnic groups and further indicate some difficulty of population-based studies. 相似文献
2.
Belfer I Phillips G Taubman J Hipp H Lipsky RH Enoch MA Max MB Goldman D 《Journal of human genetics》2004,49(5):232-245
The norepinephrine transporter (NET) regulates levels of monoamine neurotransmitters integral to a variety of behaviors and autonomic functions. Two SLC6A2 polymorphisms have been used in genetic association studies, generating intriguing but nondefinitive results on traits such as hypertension and mood. One of these SLC6A2 variants is functional but rare. The other is common but not informative over the entire 48 kb SLC6A2 region and is insufficient to capture the functional diversity potentially contained within any SLC6A2 region. To elucidate SLC6A2 haplotype structure and define markers sufficient to capture haplotype diversity within detected haplotype blocks, 26 single-nucleotide polymorphisms (SNPs) were genotyped in 384 individuals evenly divided across Finnish Caucasian, US Caucasian, Plains American Indian, and African American populations. Three conserved blocks, 13.6, 12.5, and 25 kb in size and showing little evidence for historical recombination were observed in all populations. Haplotype diversity in block 1 and numbers of common haplotypes were highest in African Americans, among whom 5–6 optimal markers were sufficient to maximize diversity of each block. For other populations, 2–3 markers/block sufficed, but the optimal markers differed across populations. The SLC6A2 haplotype map and 25-marker panel (excluding the monomorphic one) is a comprehensive tool for genetic linkage studies on phenotypes related to NET function.Parts of this work were presented at the 53rd Annual Meeting of American Society of Human Genetics, Los Angeles, CA, USA, November 2003. 相似文献
3.
Lazar A Gründemann D Berkels R Taubert D Zimmermann T Schömig E 《Journal of human genetics》2003,48(5):226-230
The extraneuronal monoamine transporter EMT (HGNC Nomenclature SLC22A3) is the molecular correlate of the classical uptake2 system responsible for the non-neuronal inactivation of circulating and centrally released catecholamines. Because of its
functional profile and expression pattern, EMT is regarded as a candidate gene for diseases related to the sympathetic nervous
system and neuropsychiatric disorders. We describe the first investigation of the genetic variability of the EMT gene in human.
Six single-nucleotide substitutions and one deletion were detected within the assumed core promoter, the exonic and flanking
intronic sequences and the 3'-untranslated region in 100 Caucasian individuals. No amino acid changes were found and Tajima's
D was positive (D=2.91; P<0.01). However, the synonymous nucleotide substitution 1233G→A might serve as a cryptic splice acceptor site. Analysis of
linkage disequilibrium between polymorphisms yielded 12 possible haplotypes accounting for more than 90% of all haplotypes.
Knowledge of the sequence variation and frequency of the underlying polymorphisms in this member of the amphiphilic solute
facilitator family of transporters provides the basis for subsequent association studies and candidate gene approaches.
Electronic Publication 相似文献
4.
X chromosome inactivation (XCI) achieves dosage compensation between males and females for most X-linked genes in eutherian
mammals. It is a whole-chromosome effect under the control of the XIST locus, although some genes escape inactivation. Marsupial XCI differs from the eutherian process, implying fundamental changes
in the XCI mechanism during the evolution of the two lineages. There is no direct evidence for the existence of a marsupial
XIST homologue. XCI has been studied for only a handful of genes in any marsupial, and none in the model kangaroo Macropus eugenii (the tammar wallaby). We have therefore studied the sequence, location and activity of a gene SLC16A2 (solute carrier, family 16, class A, member 2) that flanks XIST on the human and mouse X chromosomes. A BAC clone containing the marsupial SLC16A2 was mapped to the end of the long arm of the tammar X chromosome and used in RNA FISH experiments to determine whether one
or both loci are transcribed in female cells. In male and female cells, only a single signal was found, indicating that the
marsupial SLC16A2 gene is silenced on the inactivated X. 相似文献
5.
Identification of novel polymorphisms in the<Emphasis Type="Italic"> Adam33</Emphasis> gene 总被引:5,自引:0,他引:5
Adam33 is a member of a family of genes that encode membrane-anchored proteins with a disintegrin and a metalloprotease domain and
that are primarily expressed in lung fibroblasts and bronchial smooth muscle. The human Adam33 gene is located on chromosome 20p13, a region that has been linked to asthma and bronchial hyperresponsiveness. Recently,
the polymorphisms in Adam33 have been found to be associated with asthma. In this study, we performed polymorphism scanning of the entire genomic region,
including the promoter region of Adam33, by direct sequencing. We identified 16 novel polymorphisms in the Adam33 gene. Among these novel polymorphisms, three polymorphisms (−2154G→A, −753T→A, and −330C→T) were found to be in the promoter
region and one polymorphism (13491 G→A) was located in 3' untranslated region of the Adam33 gene.
Electronic Publication 相似文献
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María del Rosario Robles James E. Loudon John M. Kinsella Mandala Hunter-Ishikawa David S. Miller Michelle L. Sauther Frank P. Cuozzo 《Acta parasitologica / Witold Stefański Institute of Parasitology, Warszawa, Poland》2010,55(3):270-275
Lemuricola (Madoxyuris) bauchoti Chabaud, Brygoo et Petter, 1965 is redescribed from material collected from the ring-tailed lemur, Lemur catta, from the Beza Mahafaly Special Reserve in Madagascar using the scanning electron microscope. This is a new host record and
the first oxyurid reported from the ring-tailed lemur. Previously, records of each species of the subgenus Madoxyuris have been restricted to a single host species, but the close relationship between these nematodes and their Strepsirrhini
hosts will only be proven when additional records fill in the gaps in their distribution. 相似文献
8.
Bardia A Tiwari SK Gunisetty S Anjum F Nallari P Habeeb MA Khan AA 《Inflammation research》2012,61(4):359-365
Objective
The present study was designed to investigate the role of X-ray cross-complementing group 1 (XRCC1) and apurinic/apyrimidinic endonuclease 1 (APE1) polymorphisms in apoptosis and the risk of ulcerative colitis (UC). 相似文献9.
Karina?M.?Rebello Luzia?M.?C.?C?rtes Bernardo?A.?S.?Pereira Bernardo?M.?O.?Pascarelli Suzana?C?rte-Real Léa?C.?Finkelstein Rosa?T.?Pinho Claudia?M.?d’Avila-Levy Carlos?R.?Alves 《Parasitology research》2009,106(1):95-104
Leishmania (Viannia) braziliensis is the major causative agent of American tegumentary leishmaniasis, a disease that has a wide geographical distribution and
is a severe public health problem. The cysteine proteinase B (CPB) from Leishmania spp. represents an important virulence factor. In this study, we characterized and localized cysteine proteinases in L. (V.) braziliensis promastigotes. By a combination of triton X-114 extraction, concanavalin A-affinity, and ion exchange chromatographies, we
obtained an enriched fraction of hydrophobic proteins rich in mannose residues. This fraction contained two proteinases of
63 and 43 kDa, which were recognized by a CPB antiserum, and were partially sensitive to E-64 in enzymatic assays with the
peptide Glu-Phe-Leu. In confocal microscopy, the CPB homologues localized in the peripheral region of the parasite. This data
together with direct agglutination and flow cytometry assays suggest a surface localization of the CPB homologues. The incubation
of intact promastigotes with phospholipase C reduced the number of CPB-positive cells, while anti-cross-reacting determinant
and anti-CPB antisera recognized two polypeptides (63 and 43 kDa) derived from phospholipase C treatment, suggesting that
some CPB isoforms may be glycosylphosphatidylinositol-anchored. Collectively, our results suggest the presence of CPB homologues
in L. braziliensis surface and highlight the need for further studies on L. braziliensis cysteine proteinases, which require enrichment methods for enzymatic detection. 相似文献
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All trypanosome species classified in the subgenus Herpetosoma in sciurid hosts have been recorded from ground and tree squirrels to date, but not from any flying squirrels. We describe in this paper a novel trypanosome species, Trypanosoma (Herpetosoma) kuseli sp. n., from Siberian flying squirrels (Pteromys volans) imported from China, and compare it with T. (H.) otospermophili in Richardson's ground squirrels (Spermophilus richardsonii) and Columbian ground squirrels (Spermophilus columbianus) from the USA. Due to a short free flagellum, the new species appeared stumpy compared with T. otospermophili (length of free flagellum 7.0 +/- 0.8 microm, total length 32.1 +/- 0.8 microm, n = 13 and length of free flagellum 15.5 +/- 1.6 microm, total length 35.9 +/- 1.0 microm, n = 13, respectively). Another conspicuous morphological feature of the new species was an anteriorly positioned kinetoplast, found approximately at the midpoint between the nucleus and the posterior end. These characters have not been recorded from any squirrel Herpetosoma trypanosome species. Comparison of the nucleotide sequences of the small and large subunit rRNA genes indicated that T. kuseli sp. n. was more homologous to T. otospermophili than murid Herpetosoma species, such as T. grosi, T. lewisi, T. musculi, T. microti and T. evotomys. 相似文献
12.
Weihuan Huang Xiaoli Zhang Yifei Wang Wencai Ye Vincent EC Ooi Hau Yin Chung Yaolan Li 《Chinese medicine》2010,5(1):23
Background
Radix Wikstroemiae is a common Chinese herbal medicine. The ethyl acetate fraction of the ethanolic extract of W. indica possesses potent in vitro antiviral activity against respiratory syncytial virus (RSV). This study aims to identify the antiviral components of the active fraction. 相似文献13.
Mara A. Correa Tatiane Canhamero Andrea Borrego Iana S. S. Katz José R. Jensen José Luiz Guerra Wafa H. K. Cabrera Nancy Starobinas Jussara G. Fernandes Orlando G. Ribeiro Olga M. Ibañez Marcelo De Franco 《Inflammation research》2017,66(11):969-980
Objective and design
Pristane-induced arthritis (PIA) in AIRmax mice homozygous for Slc11a1 R and S alleles was used to characterize the influence of Slc11a1 gene polymorphism on immune responses during disease manifestation. Previous reports demonstrated that the presence of the Slc11a1 S allele increased the incidence and severity of PIA in AIRmax SS , suggesting that this gene could interact with inflammatory loci to modulate PIA. We investigated the effects of Slc11a1 alleles on the activation of phagocytes during PIA.Treatment
Mice were injected intraperitoneally with two doses of 0.5 mL of mineral oil pristane at 60-day intervals. Arthritis development was accompanied for 180 days.Results
AIRmax SS mice showed differential peritoneal macrophage gene expression profiles during PIA, with higher expression and production of H2O2, NO, IL-1β, IL-6, TNF-α, and several chemokines. The presence of the Slc11a1 R allele, on the other hand, diminished the intensity of macrophage activation, restricting arthritis development.Conclusion
Our data demonstrated the fine-tuning roles of Slc11a1 alleles modulating macrophage activation, and consequent PIA susceptibility, in those mouse lines.14.
15.
Galba truncatula snails were experimentally infected with either of two different isolates of Fasciola gigantica, originating from Egypt or China, to determine the influence of these isolates on the characteristics of snail infections. The survival rates of G. truncatula on day 30 post-exposure were 90.0% and 60.2% in the Egyptian and Chinese groups, respectively. The frequency of cercaria-shedding snails within the Egyptian group was 79.8%, whereas in the Chinese group it was 22.4%. The parasite origin had a significant effect on the durations of the prepatent and patent periods. The mean number of cercariae shed from the Egyptian group was significantly greater than that shed from the Chinese group (a mean of 275.5 per cercaria-shedding snail compared with 29.0). These results could be explained by the fact that G. truncatula might be a natural intermediate host for F. gigantica in Egypt, and the greater adaptability of the Egyptian miracidia of F. gigantica to unusual snail hosts. These results demonstrate the influence of the geographic origin of the parasite on the success of trematodes infecting snails. 相似文献
16.
Alfimova MV Monakhov MV Golimbet VE Korovaitseva GI Lyashenko GL 《Bulletin of experimental biology and medicine》2010,149(4):434-436
The development of personality traits united by the notion of conscientiousness, should promote, along with reduction of anxiety,
the physical and mental health. In order to detect the sources of conscientiousness and neurotism formation, we evaluated
associations between polymorphic markers of 5-HTT, 5-HTR2A, and GABRA6 genes and relevant scores of TCI questionnaire in a group of 369 volunteers. Associations of markers VNTR and LPR of 5-HTT gene and marker T1521C of GABRA6 gene with “self-directedness” and the effects of 5-HTR2A gene marker T102C and its interactions with the GABRA6 gene on the “harm avoidance” were detected. 相似文献
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Reduced scleral collagen accumulation has been found in the development of myopia. Single nucleotide polymorphisms (SNPs)
at the type I collagen α-1 gene (COL1A1) may cause different susceptibilities to myopia. We conducted a case–control study to systematically examine COL1A1 as a candidate gene for high myopia. A case was defined as spherical refraction ≤−6 D and control ≥−1.5 D. The study comprised
471 cases and 623 controls, and ten tagging SNPs were genotyped. None of the SNPs reached the significant level of 0.05. Subset
analysis on cases with a strong family history did not demonstrate significant results. We could not find an interaction between
gene and near work. Exploratory analyses by changing the cutoff values to re-define cases and controls did not improve the
results. Haplotype analysis did not yield significant association with myopia. This study failed to demonstrate COL1A1 as a significant risk factor for high myopia.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
19.
Reza Ghotaslou Hamed Ebrahimzadeh Leylabadlo Mohammad Taghi Akhi Javid Sadeghi Leila Yousefi Abed Zahedi bialvaei Mohammad Hossein Somi 《Molecular Genetics, Microbiology and Virology》2017,32(1):62-65
The cag (cytotoxin-associated gene) pathogenicity island (cagPAI) is one of the major virulence determinants of Helicobacter pylori (H. pylori). The purpose of this study was to investigate the association of the three genes (tnpA, tnpB, and cagA) in H. pylori isolated from Azerbaijani patients with the different gastrointestinal disease. A total of 362 gastric biopsies were collected from hospitals of Tabriz University of Medical Sciences, and were cultured on Brucella agar. The tnpA, tnpB, and cagA genes were detected by PCR. Of the total 264 H. pylori isolates, tnpA, tnpB, and cagA genes were detected in 120 (45.5%), 56 (21.2%) and 172 (65.2%), respectively. A significant association between tnpA and tnpB genes and clinical outcomes were found (P < 0.05). The cagA status was not related to clinical outcomes in our subjects. The predominant genotype among cag-PAI is the cagA. The prevalence of tnpA, tnpB, and cagA genes are high in patients with gastric cancer, and a significant association is revealed between tnpA and tnpB with gastric cancer. 相似文献
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