• Title/Summary/Keyword: Protein polymorphism

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No Association between the CCR5Δ32 Polymorphism and Sporadic Esophageal Cancer in Punjab, North-West India

  • Sambyal, Vasudha;Manjari, Mridu;Sudan, Meena;Uppal, Manjit Singh;Singh, Neeti Rajan;Singh, Harpreet;Guleria, Kamlesh
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권10호
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    • pp.4291-4295
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    • 2015
  • Background: Chemokines and their receptors influence carcinogenesis and cysteine-cysteine chemokine receptor 5 (CCR5) directs spread of cancer to other tissues. A 32 base pair deletion in the coding region of CCR5 that might alter the expression or function of the protein has been implicated in a variety of immune-mediated diseases. The action of antiviral drugs being proposed as adjuvant therapy in cancer is dependent on CCR5 wild type status. In the present study, distribution of CCR5${\Delta}32$ polymorphism was assessed in North Indian esophageal cancer patients to explore the potential of using chemokine receptors antagonists as adjuvant therapy. Materials and Methods: DNA samples of 175 sporadic esophageal cancer patients (69 males and 106 females) and 175 unrelated healthy control individuals (69 males and 106 females) were screened for the CCR5${\Delta}32$ polymorphism by direct polymerase chain reaction (PCR). Results: The frequencies of wild type homozygous (CCR5/CCR5), heterozygous (CCR5/${\Delta}32$) and homozygous mutant (${\Delta}32/{\Delta}32$) genotypes were 96.0 vs 97.72%, 4.0 vs 1.71% and 0 vs 0.57% in patients and controls respectively. There was no difference in the genotype and allele frequencies of CCR5${\Delta}32$ polymorphism in esophageal cancer patients and control group. Conclusions: The CCR5${\Delta}32$ polymorphism is not associated with esophageal cancer in North Indians. As the majority of patients express the wild type allele, there is potential of using antiviral drug therapy as adjuvant therapy.

Identification of a Bromodomain-containing Protein 2 (BRD2) Gene Polymorphic Variant and Its Effects on Pork Quality Traits in Berkshire Pigs

  • Lee, Dong Ju;Hwang, Jung Hye;Ha, Jeongim;Yu, Go Eun;Kwon, Seulgi;Park, Da Hye;Kang, Deok Gyeong;Kim, Tae Wan;Park, Hwa Chun;An, Sang Mi;Kim, Chul Wook
    • 한국축산식품학회지
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    • 제38권4호
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    • pp.703-710
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    • 2018
  • Bromodomain-containing protein 2 (BRD2) is a nuclear serine/threonine kinase involved in transcriptional regulation. We investigated the expression and association of the BRD2 gene as a candidate gene for meat quality traits in Berkshire pigs. BRD2 mRNA was expressed at relatively high levels in muscle tissue. Statistical analysis revealed that the c.1709G>C polymorphism of the BRD2 gene was significantly associated with carcass weight, meat color ($a^*$, redness), protein content, cooking loss, water-holding capacity, carcass temperatures 4, 12 and 24 h postmortem, and the 24 h postmortem pH in 384 Berkshire pigs. Therefore, this polymorphism in the porcine BRD2 gene may be used as a candidate genetic marker to improve meat quality traits in pigs.

한국인에서 Dystrobrevin Binding Protein 1(DTNBP1) 유전자의 다형성과 정신분열병의 연합에 대한 고찰 (Association Analysis of Polymorphisms on Dystrobrevin Binding Protein 1(DTNBP1) Gene with Schizophrenia in the Korean Population)

  • 문현일;이연정;박병래;신형두;최인근;한선호;우성일
    • 생물정신의학
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    • 제16권3호
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    • pp.149-158
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    • 2009
  • Objectives : This study was designed to investigate the association of schizophrenia and P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on dystrobrevin binding protein 1(DTNBP1) gene in Korean patients. Methods : We analyzed P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on DTNBP1 gene from their DNAs extracted from their blood in 388 Korean schizophrenic patients (male 198, female 190) and 372 control subjects(male 247, female 125). We compared the differences of genotype and allele distributions of the six polymorphisms on DTNBP1 gene between the Korean schizophrenic patient group and the normal control group. Results : There were no statistically significant differences of genotype and allele distributions of the P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on DTNBP1 gene between the schizophrenic patient group and the normal control group. Conclusion : The results of this study suggest that P1320, P1325, P1635, P1655, P1763 and SNP A polymorphism on DTNBP1 gene do not have influence on the risk of the schizophnenic in the Korean population.

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Evaluation of Three Candidate Genes Affecting Fatty Acid Composition in Pigs

  • Maharani, Dyah;Jung, Yeon-kuk;Jo, Cheorun;Jung, Woo-Young;Nam, Ki-Chang;Seo, Kang-Seok;Lee, Seung-Hwan;Lee, Jun-Heon
    • 한국축산식품학회지
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    • 제32권1호
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    • pp.6-12
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    • 2012
  • The association of three candidate genes, fatty acid synthase (FASN), microsomal triglyceride transfer protein (MTTP) and fatty acid binding protein 3 (FABP3), with fatty acid (FA) composition in Duroc pigs was investigated. Identified single nucleotide polymorphisms (SNPs) were used for polymerase chain reaction-restriction fragment length polymorphism genotyping. The c.265C>T SNP of FASN gene was significantly associated with high levels of palmitoleic acid (C16:1) (p<0.05), oleic acid (C18:1) (p<0.01), and mono-unsaturated fatty acid (MUFA) (p<0.01), but low levels of linoleic acid (C18:2) (p<0.01), alpha linolenic acid (C18:3) (p<0.05), and poly-unsaturated fatty acid (PUFA) (p<0.01) in animals having the CT genotype. The c.2573T>C SNP in the MTTP gene had a significant effect only in elevating the level of palmitoleic acid (C16:1) (p<0.05) in heterozygote animals. The polymorphism in FABP3 showed no significant effects on any fatty acid composition traits. These results suggest that the identified SNPs in the FASN and MTTP genes can be useful markers for selecting Duroc pigs having desirable healthy fatty acid composition.

Tissue Distribution, SNP Detection and Association Study with Immune Traits of Porcine LBP and CD14 Genes

  • Liu, H.Z.;Li, X.Y.;Liu, B.;Yu, M.;Ma, Y.H.;Chu, M.X.;Li, K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제21권8호
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    • pp.1080-1087
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    • 2008
  • Lipopolysaccharide binding protein (LBP) and CD14 protein play important roles in the defense against infection of Gram-negative bacteria. In the present study, tissue distribution and polymorphism of porcine LBP and CD14 genes were analyzed. Real-time PCR results showed that the porcine LBP gene was especially highly expressed in liver, while CD14 gene was highly expressed in liver and spleen tissues. A 1,732 bp cDNA fragment of porcine LBP gene and a 1,682 bp genomic DNA fragment of CD14 gene were isolated. Polymorphisms were identified in these two fragments and showed that there were 14 potential SNPs in the porcine LBP gene and 3 potential SNPs in the porcine CD14 gene. Three SNPs, 292G/A (Gly/Ser), 1168G/A (Ala/Thr) of the LBP gene and -61G/A of the CD14 gene, were genotyped using restriction fragment length polymorphism (RFLP) method. Association analyses indicated that polymorphism of the 292G/A locus was significantly associated with porcine immune traits hematocrit (HCT), IgG and delayed-type hypersensitivity (DTH) (p<0.01), and the 1168G/A locus was significantly associated with HCT and mean corpuscular volume (MCV) traits (p<0.05). No significant association was found between the -61G/A locus and immune traits of the pig. Our data indicated that the LBP gene was significantly associated with immune traits of pig. Also, we identified some SNPs which may be useful markers for disease-resistant breeding of pigs.

Polymorphism of Insulin-like Growth Factor Binding Protein-4 Gene in 17 Pig Breeds and Its Relationship with Growth Traits

  • Wang, Wenjun;Hu, Xiaoxiang;Fei, Jin;Meng, Qinyong;Li, Ning
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권10호
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    • pp.1490-1495
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    • 2007
  • Insulin-like growth factor binding protein-4 (IGFBP-4) is a member of the IGF super family, and regulates the action of IGFs. The polymorphism of porcine IGFBP-4 gene in 17 pig breeds (total n = 570) was detected by PCR-SSCP, and alleles A and B were detected. In these pig breeds, it was found that exotic pig breeds carried high frequencies of allele A, while Chinese native pig breeds carried high frequencies of allele B. The role of porcine IGFBP-4 was investigated in 172 F2 offspring of a $Lantang{\times}Lantang $ population. Forty eight growth traits were recorded for analyzing the association between IGFBP-4 gene polymorphism and quantitative performance traits. In this resource family, pigs with AA genotype had higher fore-body weight, bone weight of mid-body, bone weight of rear-body, fore-leg weight and rear-leg weight than those pigs with BB genotype (p<0.05); while pigs which carried BB genotype had higher back-fat thickness at C point and lard weight than those pigs with AA genotype (p<0.05); pigs with AA genotype had higher body weight than those with BB genotype; for meat quality traits, pigs with AA genotype had higher meat color than those of BB genotype (p<0.01), and pigs with BB genotype had higher marbling than those of AA and AB genotypes (p<0.01 and p<0.05, respectively).Based on these results, it is necessary to do more studies on IGFBP-4 before using the IGFBP-4 locus for the application of marker-assisted selection programs.

DNA Polymorphism of Insulin-like Growth Factor-binding Protein-3 Gene and Its Association with Cashmere Traits in Cashmere Goats

  • Liu, Haiying;Liu, Chao;Yang, Guiqin;Li, Hui;Dai, Jin;Cong, Yuyan;Li, Xuejian
    • Asian-Australasian Journal of Animal Sciences
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    • 제25권11호
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    • pp.1515-1520
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    • 2012
  • Insulin-like growth factor binding protein-3 (IGFBP-3) gene is important for regulation of growth and development in mammals. The present investigation was carried out to study DNA polymorphism by PCR-RFLP of IGFBP-3 gene and its effect on fibre traits of Chinese Inner Mongolian cashmere goats. The fibre traits data investigated were cashmere fibre diameter, combed cashmere weight, cashmere fibre length and guard hair length. Four hundred and forty-four animals were used to detect polymorphisms in the hircine IGFBP-3 gene. A 316-bp fragment of the IGFBP-3 gene in exon 2 was amplified and digested with HaeIII restriction enzyme. Three patterns of restriction fragments were observed in the populations. The frequency of AA, AB and BB genotypes was 0.58, 0.33 and 0.09 respectively. The allelic frequency of the A and B allele was 0.75 and 0.25 respectively. Nucleotide sequencing revealed a C>G transition in the exon 2 region of the IGFBP-3 gene resulting in R158G change which caused the polymorphism. Least squares analysis revealed a significant effect of genotypes on cashmere weight (p<0.0001), cashmere fibre length (p<0.001) and hair length (p<0.05) of the animals. The effect of genotypes on cashmere fibre diameter was not statistically significant (p>0.05). The animals of AB and BB genotypes showed higher cashmere weight, cashmere fibre length and hair length than the animals possessing AA genotype. These results suggested that polymorphisms in the hircine IGFBP-3 gene might be a potential molecular marker for cashmere weight in cashmere goats.

한우 지방산결합단백질 4(FABP4) 유전자 조절영역내 단일염기변이(SNP)와 도체형질간 연관성 분석 (Genetic polymorphism in regulatory region of fatty acid binding protein 4 (FABP4) and its effect on carcass weight in Hanwoo steers)

  • 이승환;김남국;김승창;최봉환;허강녕;이창수;김언현;이준헌;김형철;홍성구
    • 농업과학연구
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    • 제38권4호
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    • pp.673-680
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    • 2011
  • The aim of this study was to identify the polymorphism on fatty acid binding protein (FABP4) gene promoter region and its association with carcass traits in Hanwoo. We performed PCR-direct sequencing of FABP4 promoter region to identify single nucleotide polymorphism (SNPs) using unrelated 24 Hanwoo bulls. Four SNPs (-298A>G, -472A>G, -887A>G, -862A>G) were detected in the promoter region and genotyped on 583 Hanwoo steers. A linear mixed model revealed an association of three SNPs (-298A>G, -472A>G and -862A>G) with carcass weight and marbling score in dominance model (P<0.05). The animals with AA genotypes for the three SNPs were heavier carcass weight (5 kg) than animals with GG genotypes in the statistical analysis. For the marbling score, the AA genotype was lower effect of marbling score (0.21) than GG genotypes. In conclusion, this study indicates an important role for three SNPs detected in promoter region of FABP4 in determining carcass weight and marbling score in Hanwoo.

동위효소와 체액단백질 분석에 의한 한국산 멧누에나방의 지역적 특성 (Phylogeny of Bombyx mandarina inhabiting Korea analysing the isozyme and hemolymph protein polymorphism)

  • 이재만;김경아;노시갑
    • 한국잠사곤충학회지
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    • 제45권1호
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    • pp.18-24
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    • 2003
  • 한반도에 서식하는 멧누에나방의 서식지역에 따른 유전적 변이와 집누에나방과의 종간 유연관계를 조사하였다. 멧누에나방의 isozyme 및 체액단백질을 대상으로 유전자 빈도를 조사한 결과, 조사지역 중 경북 칠곡과 경남 진주집단 사이의 유전적 유사도가 가장 높았으며, 경남 진주와 강원 고성집단 사이에서 가장 낮게 나타났다. 그러나 서식집단 상호간의 유사도는 매우 높았다. 한국산 멧누에나방과 집누에나방의 isozyme 유전자형은 대부분이 동일하게 발현되었으나, 집누에나방의 한국종에서만 발현된다고 알려진 Bes의 B형, Amy-hc의 F형, Ict-E의 n형 및 Ict-h의 M형과 S형 등의 유전자형이 한반도에 서식하는 멧누에나방에서 발현되었다. 따라서, 한반도 내에서 멧누에나방의 서식지역간 유전적 변이는 인정되지 않으며, 지금까지는 고려되지 않았던 집누에 한국종과 한국산 멧누에나방의 종간 유연관계에 대해 새로운 의문이 야기된다.

Highly Polymorphic Bovine Leptin Gene

  • Yoon, D.H.;Cho, B.H.;Park, B.L.;Choi, Y.H.;Cheong, H.S.;Lee, H.K.;Chung, E.R.;Cheong, I.C.;Shin, H.D.
    • Asian-Australasian Journal of Animal Sciences
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    • 제18권11호
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    • pp.1548-1551
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    • 2005
  • The leptin, an anti-obesity protein, is a hormone protein expressed and secreted mainly from adipocyte tissue, and involved in regulation of body weight, food intake and energy metabolism. In an effort to discover polymorphism(s) in genes whose variant(s) might be implicated in phenotypic traits of growth, we have sequenced exons and their boundaries of leptin gene including 1,000 bp upstream of promoter region with twenty-four unrelated Korean cattle. Fifty-seven sequence variants were identified: fourteen in 5' flanking region, twenty-seven in introns, eight in exons, and eight in 3' flanking region. By pair-wise linkage analysis among polymorphisms, ten sets of SNPs were in absolute linkage disequilibrium (LD) (|D'| = 1 and $r^2$ = 1). Among variants identified, thirty-six SNPs were newly identified, and twenty-one SNPs, which were reported in other breeds, were also confirmed in Korean cattle. The allele frequencies of variants were quite different among breeds. The information from SNPs of bovine leptin gene could be useful for further genetic studies of this gene.