• 제목/요약/키워드: Allele Frequencies

검색결과 391건 처리시간 0.026초

Association Between C1019T Polymorphism in the Connexin 37 Gene and Helicobacter Pylori Infection in Patients with Gastric Cancer

  • Jing, Yuan-Ming;Guo, Su-Xia;Zhang, Xiao-Ping;Sun, Ai-Jing;Tao, Feng;Qian, Hai-Xin
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권5호
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    • pp.2363-2367
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    • 2012
  • Objective: To investigate the association between the connexin 37 C1019T polymorphism and Helicobacter pylori infection in patients with gastric cancer. Methods: 388 patients with gastric cancer (GC), 204 with chronic superficial gastritis (CSG) were studied. H. pylori was detected by gastric mucosal biopsies biopsy dyeing method. Connexin 37 gene polymorphism 1019 site genotypes were determined by gene sequencing technology. Genotypes and alleles frequencies were compared. Results: (1) Connexin37 gene 1019 site distribution frequency (CC type, TC type, TT type) in the CSG group was 18.1%, 45.1% and 36.8%; in the stomach cancer group it was 35.1%, 45.9% and 19.%, conforming to the Hardy-Weinberg euilibrium. (2) In comparison with CSG group, the frequency of Connexin37 C allele was higher in the gastric cancer group (58.0% vs 40.7%, OR = 2.01, 95%CI = 1.58-2.57, P < 0.01). The prevalence of gastric cancer risk was significantly increased in the carriers of C allele (CC+TC) than in TT homozygote (OR = 2.47, 5%CI = 1.68- 3.610. (3) Gastric cancer patients complicated with Hp infection 211 cases, gastric cancer group of the male patients with HP positive patients with 187 cases, 40 cases of female patients with negative patients, 24 cases were HP positive, negative in 137 cases, control group male patients, 28 cases were Hp positive, negative in 95 patients, female patients with Hp positive 6 cases, 75 cases were negative. On hierarchical analysis, the male group OR value was 15.9 (95%CI to 9.22-27.3), and the female OR was 2.19 (95%CI 0.88-5.59), indicating a greater contribution in males (P <0.01). After elimination of gender effects, positive HP and gastric cancer were closely related (OR 8.82, 95% CI: 5.45-14.3). (4) The distribution frequency of C allele in patients with Hp infection was much higher than that in Hp negative cases in the GC group (64.5% vs 47.0%, OR = 2.05, 95%CI = 1.54-2.74, P < 0.01). Compared with TT homozygotes, (CC+TC) genotype prevalence of gastric cancer risk increased significantly (OR = 2.96, 5%CI = 1.76-2.99 ). Conclusion: The T allele in the connexin37 gene might not only be associated with gastric cancer but also with H. pylori infection.

Gene Polymorphisms of OPRM1 A118G and ABCB1 C3435T May Influence Opioid Requirements in Chinese Patients with Cancer Pain

  • Gong, Xiao-Di;Wang, Jiong-Yi;Liu, Feng;Yuan, Hai-Hua;Zhang, Wen-Ying;Guo, Yue-Hui;Jiang, Bin
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권5호
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    • pp.2937-2943
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    • 2013
  • Backgrounds: Polymorphisms of OPRM1 A118G and ABCB1 C3435T have been suggested to contribute to inter-individual variability regarding pain sensitivity, opioid usage, tolerance and dependence and incidence of adverse effects in patients with chronic pain. This study aimed to investigate the association of both two polymorphisms with opioid requirements in Chinese patients with cancer pain. Methods: The genotypes of rs1799971 (OPRM1) and rs1045642 (ABCB1) were determined by PCR-RFLP and direct sequencing methods respectively in 112 patients with cancer-related pain. Comparisons between the different genotype or allele groups were performed with t-tests or one-way ANOVA tests, as appropriate. The potential relationship of allele number with opioid response was performed with a trend Jonckheere-Terpstra test. Results: In the 112 subjects, the frequencies of variant 118 G and 3435T allele were 38.4% and 37.9%, respectively. Significant higher 24h-opioid doses were observed in patients with GG (P=0.0004) and AG + GG (P=0.005) genotypes than the AA carriers. The dominant mutant 118G allele tended to be associated with progressively increasing 24h-opioiddoses (P=0.001). Compared with CC/CT, patients with ABCB1 TT genotype received higher 24h- and weight-surface area-adjusted-24h- opioids doses (P=0.057 and 0.028, respectively). Conclusions: The OPRM1 A118G single nucleotide polymorphism (SNP) is a key contributor for the inter-individual variability in opioidrequirements in Chinese cancer pain patients. This may possibly extend to the ABCB1 C3435T SNP.

Associations of IL-10 Gene Polymorphisms with Acute Myeloid Leukemia in Hunan, China

  • Yao, Chen-Jiao;Du, Wei;Chen, Hai-Bing;Xiao, Sheng;Wang, Cheng-Hong;Fan, Zi-Li
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권4호
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    • pp.2439-2442
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    • 2013
  • We investigated the possible association of interleukin-10 (IL-10) single nucleotide polymorphisms (SNPs) and susceptibility to acute myeloid leukemia (AML) in 115 patients and 137 healthy controls. Genetic analysis of IL-10 SNPs at -819 and -592 was carried out with the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach. The IL-10 mRNA expression of AML patients and controls with different genotype was detected by real-time quantitative polymerase chain reaction (RT-PCR). Genetic analysis of IL-10 revealed that the -819AA genotype frequencies and the -819A allele frequencies in the AML group were higher than in the controls (59.1% vs 40.9%; 75.6% vs 63.9%, respectively); there were remarkable differences in -819T/C and -592A/C gene distribution (P<0.05) and the TA haploid frequencies were higher in the AML group (75.6% vs 63.9%, P<0.05). IL-10 mRNA expression in incipient AML patients was obvious higher than the non-tumor group and the remission group ($7.78{\times}10^{-3}$ vs $2.43{\times}10^{-3}$, $3.64{\times}10^{-3}$, P<0.05).The study suggested that the haploid TA and genotype TA/TA may be associated with AML in Han people in Hunan province.The IL-10 SNPs at -819 and -592 sites were associated with AML and may affect IL-10 mRNA expression in AML patients.

TSLP 유전자의 다형성은 한국인 류마티스관절염 발생에 영향을 미치치 않는다 (Thymic Stromal Lymphopoietin (TSLP) Gene Polymorphisms are not Associated with Rheumatoid Arthritis in a Korean Population)

  • 이삼윤;유지인;채수천
    • 생명과학회지
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    • 제22권1호
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    • pp.25-30
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    • 2012
  • TSLP 유전자는 IL-7와 유사한 새로운 조혈성 사이토카인이다. 인간의 TSLP는 상피세포, 기질세포 및 비만세포에서 만들어진다. TSLP는 류마티스관절염 환자의 윤활성 활액에서 높은 발현을 나타낸다. 이전 연구에서 우리들은 사람의 TSLP유전자에서 4개의 유전자다형성 및 한 개의 변이를 발굴하였다. 이 연구에서는, 우리들이 발굴한 TSLP유전자의 유전자다형성의 유전자형 및 대립형질의 비율을 건강한 정상인과 류마티스관절염 환자에서 비교분석하였으며, 류마티스관절염 환자에 있어서 유전자형에 따른 RF 및 anti-CCP의 정도를 비교 분석하였다. 또한, 양쪽 그룹에서 이들 유전자다형성에 의한 일배체형 비율을 비교 분석하였다. 그 결과, 류마티스관절염 환자군과 건강한 정상인 군 사이에 있어서 유전자형, 대립형질 비율뿐만 아니라 일배체형 비율에 큰 차이를 보이지 않았다. 이 결과는 TSLP유전자의 유전자다형성은 류마티스관절염 감수성에 영향을 미치지 않음을 암시한다.

군락내 공간적 분석에 의한 세 종간 상관관계 (Three Species Associations with Spatial Autocorrelation Analysis in Community)

  • 허만규;허홍욱;김창호
    • The Korean Journal of Ecology
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    • 제23권1호
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    • pp.17-23
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    • 2000
  • 소나무(Pinus densiflora), 쥐똥나무(Ligustrum obtusifolium), 그리고 오리나무(Alnus japonica)의 공간적 상관관계를 생태적, 유전적 분석을 통해 살펴보았다. 이 가운데, 소나무와 쥐똥나무의 생태적 공간관계는 양의 상관관계를 나타낸 반면, 쥐똥나무와 오리나무는 음의 상관관계를 나타내었다. Moran의 I값과 표준편차(SND: standard normal deviate)값에 의하면 소나무는 18 m에서 집단구조를 형성 한 반면, 쥐똥나무는 12.5 m간격으로 집단구조가 형성되어 있었다. 오리나무는 명확한 집단구조가 결여되어 있었다. 소나무와 쥐똥나무의 두 종간의 공간구조에 있어, 유전적으로 유의한 상관관계가 형성 된 것은 소나무의 수관이 비교적 좁고, 적절한 피음효과를 제공함으로써, 쥐똥나무의 생육에 기여하였기 때문으로 생각된다. 오리나무와 쥐똥나무의 경우, 광합성과 관련한 수광경쟁에서 비교적 넓은 오리나무의 수관 때문에,두 종간의 동소적 관계가 방해되는 것으로 추정된다.

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Confirmation of genotypic effects for the bovine APM1 gene on marbling in Hanwoo cattle

  • Kwon, Anam;Srikanth, Krishnamoorthy;Lee, Eunjin;Kim, Seonkwan;Chung, Hoyoung
    • Journal of Animal Science and Technology
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    • 제58권4호
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    • pp.15.1-15.6
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    • 2016
  • Background: Our previous study had identified the SNP (g.81966377T > C) and indel (g.81966364D > I) located in the promoter of APM1 to have a significant effect on marbling in Hanwoo. APM1 encodes an adipocytokine called adiponectin, which plays a significant role in lipogenesis. The aim of this study was to verify and validate the effect of the SNP and indel on marbling and other carcass traits in a large, representative, countrywide population of Hanwoo cattle. The carcass traits measured were marbling (MAR), backfat thickness (BFT), loin eye area (LEA), and carcass weight (CAW). Results: Primers were designed to amplify 346 bp of the genomic segment that contained the targeted SNP (g.81966377) and the indel (g.81966364). After data curation, the genotypes of 8,378 individuals identified using direct sequencing analysis estimated frequencies for C (0.686) and T (0.314) respectively showing genotype frequencies for CC (0.470), CT (0.430) and TT (0.098). The genotypes were significantly associated with MAR, BFT and LEA. The indel had significant effect on marbling (P < .0001) with strong additive genetic effects. The allele frequencies was estimated at (DEL, 0.864) and insertion (INS, 0.136) presenting genotypes of D/D (75.63 %), D/I (21.44 %), and I/I (2.92 %). Significant departure from Hardy-Weinberg equilibrium was not detected for both the SNP and the indel. Conclusion: The SNP genotypes showed significant association with MAR, BFT and LEA with strong additive genetic effects, while the indel was significantly associated with MAR. The results confirmed that the variants can be used as a genetic marker for improving marbling in Hanwoo.

Association of the Human IL-28RA Gene Polymorphisms in a Korean Population with Asthma

  • Chae Soo-Cheon;Park Young-Ran;Lee Yong-Chul;Yang Yun-Sik;Chung Hun-Taeg
    • Genomics & Informatics
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    • 제4권3호
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    • pp.103-109
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    • 2006
  • IL-28RA is one of the important candidate genes for complex trait of genetic diseases, but there are only a few published results for this gene. Previously, we identified eighteen SNPs and two variation sites in the entire coding regions of IL-28RA including promoter regions, and suggested that the g.32349G>A polymorphism of IL-28RA might be associated with susceptibility to allergic rhinitis. In this study, we chose seven SNPs (g.-1193A>C, g.-30C>T, g.17654C>T, g.27798A>G, g.31265C>T, g.31911C>T and g.32349G>A) of IL-28RA, and attempted to find out whether these polymorphisms were furtherassociated with genetic predisposition of asthma. We analyzed the genotype and allele frequencies of IL-28RA polymorph isms between the asthma patients and healthy controls. We also investigated the frequencies of haplotype constructed by these SNPs between asthma patients and controls. Our results suggest that the polymorphisms of IL-28RA gene were not associated with susceptibility to asthma, and not with IgE production and eosinophil recruitment. The haplotype frequencies by these SNPs also not significantly associated between the healthy controls and asthma patients. This result indicates that the IL -2BRA polymorphisms might be not associated withasthma susceptibility.

Genetic Relationships of Korean Ocenebrine Species (Gastropoda: Prosobranchia: Muricidae)

  • Park, Joong-ki;Choe, Byung-Lae
    • Animal cells and systems
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    • 제3권3호
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    • pp.285-293
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    • 1999
  • Allele frequencies in twenty-two populations from nine Korean muricid species of five genera (Rapaninae and Ocenebrinae) wire analyzed genetically using 13 loci from 11 allozyme systems. The clustering patterns of these species were basically consistent with traditional groupings to two subfamilial categories based on shell and radula morphologies. Within six ocenebrine species it was apparent that Ceratostoma inornata and Pteropurpura adunca were most closely related to each other than to any other species belonging to the genus Ceratostoma. These results, along with other anatomical features 〔morphologies of albumin gland (female), egg capsule〕, suggest that the generic position of C. inornata, previously classified to be congeneric with other western Pacific Ceratostoma species, should be reconsidered. Our results show the close relationship of Nucella freycineti with other ocenebrine species, rather than with rapanines, which supports a previous suggestion that the genus Nucella should be placed with the subfamily Ocenebrinae rather than the subfamily Rapaninae.

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Genetic Divergence between Two Marine Catfish of Family Ariidae - Arius maculatus and Osteogeneiosus militaris

  • Chaudhari, Aparna;Alam, Afaque
    • Asian-Australasian Journal of Animal Sciences
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    • 제17권9호
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    • pp.1188-1191
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    • 2004
  • Two species of marine catfish, Arius maculatus and Osteogeneiosus militaris, belonging to family Ariidae were analysed electrophoretically for genetic variation in 6 enzymes, alcohol dehydrogenase (ADH), malate dehydrogenase (MDH), lactate dehydrogenase (LDH), glucose dehydrogenase (GDH), malic enzyme (ME) and superoxide dismutase (SOD). Eighteen individuals of each species were studied. Two loci MDH and ADH were polymorphic in both. Average heterozygosity in A. maculatus was 1.46, while it was 2.5 in O. militaris. The allele frequencies were used to estimate Nei's genetic distance (D). The D value was calculated to be 0.6879. Two isozyme loci, ME and SOD, were found to be the most reliable species specific markers. No tissue specific loci were observed for the enzymes studied, the bands being identical in each case. The genetic distance observed between O. militaris and A. maculatus in this study suggests that they would be more appropriately classified as species of the same genus rather than being assigned separate genera.

Analysis of Microsatellite DNA Polymorphisms in Five China Native Cattle Breeds and Application to Population Genetics Studies

  • Jin, Hai-Guo;Zhao, Yu-Min;Zhou, Guo-li
    • Asian-Australasian Journal of Animal Sciences
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    • 제18권12호
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    • pp.1696-1700
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    • 2005
  • Five China native cattle breeds have been characterized by using 10 microsatellite DNA markers. The studied populations can be divided into five groups: Luxi cattle, Nanyang cattle, Jinnan cattle, Qinchuan cattle and Yanbian cattle. Allele frequencies were calculated and used for the characterization of the breeds and the study of their genetic relationships. Heterozygosity, polymorphism information content, the effective number of alleles was calculated. Nei' standard genetic distance (1978) was calculated and used for a neighbor-joining tree construction. NJ tree showed that Luxi cattle, Nanyang cattle, Jinnan cattle and Qinchuan cattle are closely related, whereas Yanbian cattle are clearly distinct from other four populations. The genetic relationship of five breeds corresponds to their history and geographic origins. This work analyzes the recent origin of these populations and contributes to the knowledge and genetic characterization of China native breeds.