• 제목/요약/키워드: allelic study

검색결과 214건 처리시간 0.027초

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.

The Prostaglandin Synthase 2/cyclooxygenase 2 (PTGS2/COX2) rs5277 Polymorphism Does not Influence Risk of Colorectal Cancer in an Iranian Population

  • Khorshidi, Fatemeh;Haghighi, Mahdi Montazer;Mojarad, Ehsan Nazemalhosseini;Azimzadeh, Pedram;Damavand, Behzad;Vahedi, Mohsen;Almasi, Shohreh;Aghdaei, Hamid Asadzadeh;Zali, Mohammad Reza
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권8호
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    • pp.3507-3511
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    • 2014
  • Background: The prostaglandin-endoperoxide synthase 2 [PTGS2, commonly known as cyclooxygenase-2 (COX-2)] is an enzyme induced by proinflammatory stimuli that is often overexpressed in malignant tissue and involved in the synthesis of prostaglandins and thromboxanes, regulators of processes such as inflammation, cell proliferation, and angiogenesis, all relevant for cancer development. We investigated whether a functional genetic polymorphism, rs5277, in COX-2 may have a risk-modifying effect on sporadic colorectal cancer in an Iranian population. Materials and Methods: We conducted a case-control study on 167 patients with colorectal cancer and 197 cancer-free controls in Taleghani Hospital in Tehran, Iran, between 2007 and 2011. Peripheral blood samples of both groups were processed for DNA extraction and genotyping of the COX-2 gene polymorphism (rs5277) using PCR-RFLP. RFLP results were confirmed by direct sequencing. Logistic regression analysis was performed to calculate the adjusted odds ratio (OR) and 95% confidence interval (95% CI). Results: There was no significant difference in the distribution of COX-2 gene rs5277 polymorphism genotype and the allelic form, among CRC patients compared with the healthy control group (p: 0.867). Conclusions: Our results suggest that rs5277 polymorphism in COX2 could not be a good prognostic indicator for patients with CRC.

Single Nucleotide Polymorphisms in the u-PA Gene are Related to Susceptibility to Oral Tongue Squamous Cell Carcinoma in the Northern Chinese Han Population

  • Zhong, Feng;Yang, Xue-Cai;Bu, Ling-Xue;Li, Ning-Yi;Chen, Wan-Tao
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권2호
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    • pp.781-784
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    • 2013
  • Aim: The purpose of this study was to determine whether susceptibility to oral tongue squamous cell carcinoma (OSCC) is related to polymorphisms in the u-PA gene. Methods: We examined the rs2227564 C/T and rs2227562 G/A single nucleotide polymorphisms (SNPs) in 196 OSCC patients and 201 age- and gender-matched controls via direct sequencing and PCR-RFLP methods. Results: Significant differences were found in allelic and genotypic distributions of the rs2227564 and rs2227562 loci when comparing cases and controls. In addition, logistic analyses indicated that the rs2227564 C/T genotype was related to a 1.52-fold increased risk of developing OSCC (adjusted OR=1.521, 95%CI: 1.144~2.022, P=0.004). Linkage disequilibrium analysis was conducted and no association between the two loci was found (D'=0.031, $r^2$=0.000). Conclusions: Our findings provide evidence that the rs2227564 C/T SNP in the u-PA gene is associated with the development of OSCC.

한국인과 일본인에서 1번 염색체에 부착되는 microsatellite marker의 특징 (Characterization of microsatellite markers covering chromosome 1 in the Korean and Japanese populations)

  • 이유진;박수병
    • 대한치과교정학회지
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    • 제34권6호
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    • pp.537-543
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    • 2004
  • Microsatellite market는 유전연관분석을 위한 매우 유용한 유전표지이다. 그러나 대부분의 market들은 서양인의 정보를 이응하고 있으므로 다른 종족에서 사용할 때는 종족간에 존재할 수 있는 유전 변이의 현저한 차이를 검증해야 한다. 한국인과 일본인 집단에서 종족간 유전 변이를 조사하기 위하여, 각각 96명의 비 혈연관계의 한국인과 일본인 개체들에서 DNA를 채취하였다 그리고 microsatellite set(ABI PRISM Linkage Mapping Set- HDS, Applied Biosystems, Foster City, CA, USA)을 이용하여 1번 인간 염색체 전 부위에 걸쳐 51개의 microsatellite marker들을 배열하고 부착된 marker들의 위치를 분석하여 대립유전자 빈도와 이형질성을 결정하였다 그 결과, 한국인과 서양인 집단 사이에는 현저한 차이를 보였으나 한국인과 일본인 집단 사이에서는 매우 유사하였다. 본 연구의 결과는 유전 연관 연구에 앞서 일반적으로 상용되는 microsatellite marker에 관한 광범위한 검증을 반드시 시행하여야 한다는 것을 나타낸다. 또한 한국인과 일본인 집단 사이에서 유사하게 나타난 대립유전자 빈도와 이 형질성은 두 민족간의 동질성이 높다는 것을 의미하므로 두 민족을 대상으로 한 1번 인간염색체와 관련된 유전 질환의 유전 연관 연구를 시행할 때 동일한 microsatellite marker의 이용 가능성을 제시하였다.

Association between PCR-RFLP Polymorphism of the Fifth Intron in Lipoprotein Lipase Gene and Productive Traits in Pig Resource Family

  • Zhang, B.Z.;Lei, M.G.;Deng, C.Y.;Xiong, Y.H.;Zuo, B.;Li, F.E.
    • Asian-Australasian Journal of Animal Sciences
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    • 제18권4호
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    • pp.458-462
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    • 2005
  • The study was aimed at detecting polymorphism of the fifth intron in lipoprotein lipase (LPL) gene and analyzing association between the polymorphism and productive traits. A pair of primers was designed for amplifying the fifth intron. Sequence analysis indicated that a G1171C substitution existed in Large White breed. The mutation was detected by PCR-AfaI-RFLP. Polymorphism analysis in a pig resource family showed that there existed significant effects on carcass and meat quality traits. Thoraxwaist fat thickness of BB genotype was significantly higher (14.2%, p<0.05) than that of AA on carcass traits, while BB genotype was significantly lower (3.6% p<0.01, 4.1% p<0.01; 2.3% p<0.01, 1.9% p<0.01; 1.8% p<0.01, 1.4% p<0.05) than AA and AB genotype in pH of m. Longissimus Dorsi (LD), m. Biceps Femoris (BF), m. Semipinali Capitis (SC). The allelic frequencies were also significantly different between indigenous Chinese breeds and exotic breeds. Data analyzed revealed that the mutation locus affected production traits mostly by additive effects. Based on these results, it is necessary to do more studies on LPL gene before making the LPL locus into the application of marker-assisted selection (MAS) programs.

Marker-assisted Genotype Analysis of Bulb Colors in Segregating Populations of Onions (Allium cepa)

  • Kim, Sunggil;Bang, Haejeen;Yoo, Kil-Sun;Pike, Leonard M.
    • Molecules and Cells
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    • 제23권2호
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    • pp.192-197
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    • 2007
  • Bulb color in onions (Allium cepa) is an important trait whose complex inheritance mechanism involves epistatic interactions among major color-related loci. Recent studies revealed that inactivation of dihydroflavonol 4-reductase (DFR) in the anthocyanin synthesis pathway was responsible for the color differences between yellow and red onions, and two recessive alleles of the anthocyanidin synthase (ANS) gene were responsible for a pink bulb color. Based on mutations in the recessive alleles of these two genes, PCR-based markers for allelic selection were developed. In this study, genotype analysis of onions from segregating populations was carried out using these PCR-based markers. Segregating populations were derived from the cross between yellow and red onions. Five yellow and thirteen pink bulbs from one segregating breeding line were genotyped for the two genes. Four pink bulbs were heterozygous for the DFR gene, which explains the continuous segregation of yellow and pink colors in this line. Most pink onions were homozygous recessive for the ANS gene, except for two heterozygotes. This finding indicated that the homozygous recessive ANS gene was primarily responsible for the pink color in this line. The two pink onions, heterozygous for the ANS gene, were also heterozygous for the DFR gene, which indicated that the pink color was produced by incomplete dominance of a red color gene over that of yellow. One pink line and six other segregating breeding lines were also analyzed. The genotyping results matched perfectly with phenotypic color segregation.

Reverse Random Amplified Microsatellite Polymorphism Reveals Enhanced Polymorphisms in the 3' End of Simple Sequence Repeats in the Pepper Genome

  • Min, Woong-Ki;Han, Jung-Heon;Kang, Won-Hee;Lee, Heung-Ryul;Kim, Byung-Dong
    • Molecules and Cells
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    • 제26권3호
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    • pp.250-257
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    • 2008
  • Microsatellites or simple sequence repeats (SSR) are widely distributed in eukaryotic genomes and are informative genetic markers. Despite many advantages of SSR markers such as a high degree of allelic polymorphisms, co-dominant inheritance, multi-allelism, and genome-wide coverage in various plant species, they also have shortcomings such as low polymorphic rates between genetically close lines, especially in Capsicum annuum. We developed an alternative technique to SSR by normalizing and alternating anchored primers in random amplified microsatellite polymorphisms (RAMP). This technique, designated reverse random amplified microsatellite polymorphism (rRAMP), allows the detection of nucleotide variation in the 3' region flanking an SSR using normalized anchored and random primer combinations. The reproducibility and frequency of polymorphic loci in rRAMP was vigorously enhanced by translocation of the 5' anchor of repeat sequences to the 3' end position and selective use of moderate arbitrary primers. In our study, the PCR banding pattern of rRAMP was highly dependent on the frequency of repeat motifs and primer combinations with random primers. Linkage analysis showed that rRAMP markers were well scattered on an intra-specific pepper map. Based on these results, we suggest that this technique is useful for studying genetic diversity, molecular fingerprinting, and rapidly constructing molecular maps for diverse plant species.

버들개(Moroco lagowskii)와 버들치(M.oxcephalus)의 동서지역 분석 및 종 문제에 관하여 (Sympatry and Species Status of Momco Jagowskii and M oxycephalus (Cyprirndae))

  • 양서영;민미숙
    • 한국동물학회지
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    • 제31권1호
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    • pp.56-61
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    • 1988
  • 한국산 담수어류로 현대적으로 유사한 M. lagowskii와 M. oxycephalus 2 종의 위치를 규명하기 위하여 sympatric area인 강원도 고성군 간성읍 진부리 제추교 집단에서 유전자 분석과 형태 분석을 실시한 결과는 다음과 같다. 1.2종에 대한 유전적 분석 결과 19개의 효소 및 단백질에서 26개의 유전자를 검출, 비교 분석한 결과 Aco, Est-2, E-X, Gk-3, Ipo, Me등 6개 유전자는 2종 사이에 뚜렷한 차이가 있어 genetic marker로 확인되었다. 2.2종의 외부형태 분류질적인 측선상부인수(SAL)의 값이 M. lagowskii는 평균 24개 이상(24.93 $\pm$1.95),M. oxycephalus는 18개 이하(17.33$\pm$0.72)로 뚜렷히 분류되며 allopatric area에서 평균 값의 차이보다 큰 값을 나타내고 있으며 이는 sympatric지역에서의 character displacement 결과로 사료된다. 3.Sympatric지역에서 유전적으로나 형태적으로 2종 사이에 뚜렷한 차이가 있으며 hybrid개체가 발생하지 않는 것으로 보아 M. lagowskii와 M. oxycephalus는 완전한 reproductive isolation rechanism이 형성된 별종이라 사료된다. 4.이들 2종 사이에는 서식처에 차이를 보이고 있어 M. lagowskii는 주로 본류에 많이 분포하고 M. oxycephalus는 지류에 분포하고 있다.

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Salmonella enterica serovars Enteritidis, Gallinarum 및 Typhimurium의 마우스 면역반응의 비교평가 (Comparative evaluation of the murine immune responses to Salmonella enterica serovars Enteritidis, Gallinarum and Typhimurium infection)

  • 김기주;김두리;선지선;박소연;조영재;고현정;주홍구;한태욱
    • 대한수의학회지
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    • 제53권2호
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    • pp.95-101
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    • 2013
  • The study was carried out to evaluate and compare the immune responses in mice experimentally infected with either wild-type or isogenic mutants of Salmonella enterica serovars Enteritidis (SE), Salmonella Typhimurium (ST) and Gallinarum (SG). The mutant strains were constructed by allelic replacement of some virulence-associated genes in the wild-type strains. Seven-week-old female BALB/c mice were orally or intraperitoneally inoculated by injecting bacterial suspension. To evaluate the immune responses, enzyme-linked immunosorbent assay (ELISA) and enzyme-linked immunospot (ELISPOT) assay were conducted with serum and fecal samples. As a result, the mice group infected orally with the SE mutant strain showed the highest level of specific IgA-secreting splenocytes, compared to the other groups. The peritoneally injected groups showed the greater levels of IgG1 than the orally injected groups, which was in a good agreement with the previous studies. In addition, the mutant infected groups had the similar secretion levels of antibodies with the wild-type infected groups. These results demonstrated that the SE mutant strain elicited humoral immune response as much as wild-type, implying that it can be useful as a delivery vehicle as well as a candidate of a live attenuated vaccine.

수본(數本)의 양친수(兩親樹)에 의해 전파증식(傳播増殖)중에 있는 리기다소나무 집단(集團)의 유전적(遺傳的) 구조(構造) (Genetic Structure of Pinus rigida Mill. in an Expanding Population Originating from a Few Founder Trees)

  • 정민섭
    • 한국산림과학회지
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    • 제72권1호
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    • pp.16-26
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    • 1986
  • 처음 8본의 리기다소나무 양친수로부터 전파 증식된 리기다소나무 집단에 대한 유전변이를 AAT, GDH, LAP 등의 Allozyme에 의해 조사한 결과 다음과 같은 사실을 밝혀냈다. 표본으로 선정된 리기다소나무 집단은 산의 남쪽 낮은 지대에 처음 식재되었던 8본의 양친수로부터 종자가 무더기 무더기로 군데군데 colony를 형성하면서 동쪽, 서쪽, 북쪽으로 전파 증식되어 산지의 각 부분 부분마다 유전적으로 서로 밀접하게 관련된 소수의 가계군(家系群)을 형성하였다. 이러한 형태의 이주(移柱)와 colony 형성과정에서 부분적으로 Inbreeding과 Genetic Drift 현상이 심하게 진행되고 있는 것으로 추정되었으며, 그 결과 처음 리기다소나무 colony가 형성되었던 산의 남쪽지역과 나중에 colony가 형성되었던 북쪽 지역의 소집단 사이에 상당량의 유전자 빈도 차이가 확인되었다. Inbreeding과 Genetic Drift 현상에 의해 소수 유전자좌(座)에 유전자 고정 현상이 나타났으나 기타의 유전자좌(座)에서는 유전자 Recombination이 일어났다. Gene Recombination에 의한 이형접합체(異型接合體)의 형성과 이들의 자연도태 현상에 의해 유전적으로 서로 밀접하게 관련된 소수의 리기다소나무 집단에 있어서도 상당량의 유전적 다양성과 이형접합성(異型接合性)이 유지되고 있었다.

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