• 제목/요약/키워드: Variant Type

검색결과 284건 처리시간 0.029초

Genetic diversity and population structure in five Inner Mongolia cashmere goat populations using whole-genome genotyping

  • Tao Zhang;Zhiying Wang;Yaming Li;Bohan Zhou;Yifan Liu;Jinquan Li;Ruijun Wang;Qi Lv;Chun Li;Yanjun Zhang;Rui Su
    • Animal Bioscience
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    • 제37권7호
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    • pp.1168-1176
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    • 2024
  • Objective: As a charismatic species, cashmere goats have rich genetic resources. In the Inner Mongolia Autonomous Region, there are three cashmere goat varieties named and approved by the state. These goats are renowned for their high cashmere production and superior cashmere quality. Therefore, it is vitally important to protect their genetic resources as they will serve as breeding material for developing new varieties in the future. Methods: Three breeds including Inner Mongolia cashmere goats (IMCG), Hanshan White cashmere goats (HS), and Ujimqin white cashmere goats (WZMQ) were studied. IMCG were of three types: Aerbas (AEBS), Erlangshan (ELS), and Alashan (ALS). Nine DNA samples were collected for each population, and they were genomically re-sequenced to obtain high-depth data. The genetic diversity parameters of each population were estimated to determine selection intensity. Principal component analysis, phylogenetic tree construction and genetic differentiation parameter estimation were performed to determine genetic relationships among populations. Results: Samples from the 45 individuals from the five goat populations were sequenced, and 30,601,671 raw single nucleotide polymorphisms (SNPs) obtained. Then, variant calling was conducted using the reference genome, and 17,214,526 SNPs were retained after quality control. Individual sequencing depth of individuals ranged from 21.13× to 46.18×, with an average of 28.5×. In the AEBS, locus polymorphism (79.28) and expected heterozygosity (0.2554) proportions were the lowest, and the homologous consistency ratio (0.1021) and average inbreeding coefficient (0.1348) were the highest, indicating that this population had strong selection intensity. Conversely, ALS and WZMQ selection intensity was relatively low. Genetic distance between HS and the other four populations was relatively high, and genetic exchange existed among the other four populations. Conclusion: The Inner Mongolia cashmere goat (AEBS type) population has a relatively high selection intensity and a low genetic diversity. The IMCG (ALS type) and WZMQ populations had relatively low selection intensity and high genetic diversity. The genetic distance between HS and the other four populations was relatively high, with a moderate degree of differentiation. Overall, these genetic variations provide a solid foundation for resource identification of Inner Mongolia Autonomous Region cashmere goats in the future.

발광세균 Photobacterium leiognathi의 돌연변이 아미노-말단 루마진 단백질들의 제조, 발현 및 정제 (Construction, Expression, and Purification of N-Terminal Variants of Lumazine Protein from Photobacterium leiognathi)

  • 강경숙;김소영;최지선;김영두;로버트 포쿠;남기석;이찬용
    • 미생물학회지
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    • 제49권2호
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    • pp.205-210
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    • 2013
  • 루마진 단백질은 발광 세균인 Photobacterium 종에서 추출된 형광성 단백질이다. 형광성을 지닌 최소 크기의 Photobacterium leiognathi 야생형 아미노-말단 도메인 루마진 단백질(N-terminal domain of lumazine protein 118 wt)과 여러 영역에 tryptophan을 생성시킨 돌연변이 단백질들(N-LumP 118 V41W, S48W, T50W, D64W, A66W)을 코드하는 유전자들을 위치 지정 돌연변이(Site Directed Mutagenesis)와 중합효소 연쇄 반응(Polymerase Chain Reaction)을 통해 제조하였다. 위의 유전자들이 포함된 재조합 플라스미드를 대장균에 형질 전환시켜 과발현시키는 최적의 조건을 찾았으며, 발현된 야생형 및 돌연변이 아미노-말단 영역 루마진 단백질을 6X-His tag system을 이용하여 정제 하였다. 흡광 및 형광 분광광도계를 이용한 실험 결과 이들 단백질들은 리간드인 6,7-dimethyl-8-ribityllumazine과 결합하여 형광성을 보유함을 보였다. 따라서 이들은 형광성을 지니게 되는 최소 크기의 루마진 단백질일 뿐만 아니라 형광성을 지닌 아미노산인 tryptophan이 여러 위치에 유일하게 존재함으로써 배향성 및 거리 등의 단백질의 구조 및 결합에 관한 심도 있는 연구에 탐침자로써 유용하게 활용 될 수 있을 것이다.

국내회사와 다국적기업 제조 ELISA 키트의 전염성 기관지염 백신에 따른 항체 검출능 비교 (Development of Infectious Bronchitis Virus (IBV) ELISA Kit for Detection of Antibodies against Nephropathogenic IBV Vaccine)

  • 김규직;김준영;윤하나;주효선;이다예;송창선
    • 한국가금학회지
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    • 제45권1호
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    • pp.17-28
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    • 2018
  • 전염성기관지염은 전세계적으로 양계산업에 문제시되고 있는 질병으로서 이를 예방하기 위한 연구가 활발히 진행되고 있다(Dhama et al., 2014). 본 연구는 전염성기관지염 백신을 진행한 여러 계군의 혈청을 수집해 국내회사와 다국적기업에서 제조한 ELISA 키트의 검출능 차이를 확인하고자 하였다. 육용원종계부터 산란계까지 총 35개의 계군으로부터 주기적인 채혈을 통해 얻어진 혈청을 사용해 두 가지 키트의 검출능 비교시험을 진행한 결과, 국내회사에서 제조된 ELISA 키트가 더 높은 항체가를 나타냈으며, 이는 미량의 항체도 국내회사 제조 키트를 사용하게 되면 더욱 민감하게 검출될 수 있으며, 농장의 상황 판단에 더욱 도움이 될 수 있을 것임을 시사한다. 이러한 결과를 토대로 비추어 보았을 때, 국내에서 발생하고 있는 전염성기관지염에 맞춰 제작된 국내회사 제조 키트가 더 검출능이 뛰어난 것으로 판단된다. 또한, 주기적인 혈청을 이용한 항체가 검사 결과 전염성기관지염 백신 후 항체가 변화 추이를 관찰할 수 있었다.

우리나라 오리나무림의 군락생태학적 연구 (A Synecological Study of the Alnus japonica Forests in Korea)

  • 조준희;배관호;오승환;김준수;조현제
    • 한국산림과학회지
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    • 제109권2호
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    • pp.124-135
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    • 2020
  • 오리나무림은 우리나라를 비롯한 동아시아의 습지림을 구성하는 대표적인 임분으로 예전에는 산지, 하변, 배후습지, 그리고 충적 저지 등 다양한 서식환경에서 비교적 흔하게 분포하고 있었으나, 다양한 토지이용과 서식지의 건조화 등의 영향으로 최근에는 보기 드문 식물군락 중의 하나로 여겨지고 있다. 본 연구는 우리나라 산지습지에 자연적으로 분포하고 있는 오리나무림의 군락생태학적 특성을 파악하여 향후 그 체계적 보전 및 관리를 위한 기초자료를 제공하는 데 있다. 전국 66개 지소의 오리나무림을 대상으로 ZM학파의 식물사회학적 방법과 이원지표종분석(TWINSPAN)을 병용하여 군락 유형을 분류한 결과, 모두 8개 단위 유형 (쪽동백나무형, 들메나무-병꽃나무형, 참조팝나무형, 콩제비꽃형, 꼬리조팝나무-물봉선형, 왕미꾸리광이형, 진퍼리새형, 그리고 상수리나무-생강나무형)이 구분되었으며, 2개 군락, 4개 아군락, 그리고 8개 변군락(variant)의 식생단위 체계로 구성되어 있음을 알 수 있었다. 또한, 군락유형별 생태적 특성(구성종의 총피도(/100㎡), 중요치, 상재도, 생활형 조성, 종다양성 지수, 군락유사도 그리고 지표종 등)을 비교하였다.

한국인 비만 여성의 GNB3, ACE, ADRB3, ADRB2 유전자 다형성간의 상호관계에 관한 연구 (Study of Gene-gene Interaction within GNB3, ACE, ADRB3, ADRB2 among Korean Female Subject)

  • 최현;배현수;홍무창;신현대;신민규
    • 동의생리병리학회지
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    • 제18권5호
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    • pp.1426-1436
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    • 2004
  • There have been several reports on the relationship between G protein β3 subunit gene (GNB3), angiotensin converting enzyme gene (ACE), β3-adrenergic receptor gene (ADRB3), and β2-adrenergic receptor gene (ADRB2) genotype and obesity or obesity related disease. The objective of this study was to examine the relationship between the combinations of these four genes' polymorphism and probability of obesity related disease in Korean female subjects. The experimental group was consisted of 85 obese Korean female subjects (body mass index, BMI≥27㎏/㎡). To determine the polymorphism, genomic DNA was isolated, and PCR was performed. Serological examinations (fasting plasma glucose, FPG; aspartate aminotranferase, AST; alanine aminotransferase, ALT; total cholesterol, TC; triglyceride, TG; high density lipoprotein-cholesterol, HDL; low density lipoprotein-choles terol, LDL) were carried by an autoanalyzer and serological methods. BMI, waist circumference (WC), hip circumference and waist hip ratio (WHR) were measured. Consequencely in the analysis with grouping of general genotyping and variant allele carrier/non-carrier, the result was not significantly different within all gene combinations and polymorphic pairings except higher waist circumference in Arg16Arg group of ADRB2 codon16 (P=0.024). And there was no significantly contrast result about age, height, weight, AST and ALT that are index feature of liver and gall bladder disease in polymorphic pairings of gene combinations. However, the statistical analysis of waist-hip ratio and waist circumference that could be recognized as the physical type of obesity showed T-Arg16 pairing carrier in GNB3-ADRB2 codon16 combination had increased WHR and WC significantly (P=0.046 and P=0.015 respectively). Futhermore, the levels of total cholesterol (TC) and low density lipoprotein choresteral (LDL) were significantly lower in C-I pairing of GNB3-ACE combination (P=0.032 and P=0.005). These results suggest that the T-Arg16 pairing carrier in GNB3-ADRB2 codon16 gene might have increased waist circumference and C-I pairing carrier in GNB3-ACE combination have lower possibility of contraction of cardiovascular disease related cholesterol and LDL despite of obese state.

GIST/ADEMRC 다파장 라만 라이다 시스템을 이용한 안면도 지역에서의 라이다 비 연구 (Determination of the Lidar Ratio Using the GIST / ADEMRC Multi-wavelength Raman Lidar System at Anmyeon Island)

  • 노영민;김영민;김영준;최병철
    • 한국대기환경학회지
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    • 제22권1호
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    • pp.1-14
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    • 2006
  • Tropospheric aerosols are highly variant in time and space due to non-uniform source distribution and strong influence of meteorological conditions. Backscatter lidar measurement is useful to understand vertical distribution of aerosol. However, the backscatter lidar equation is undetermined due to its dependence on the two unknowns, extinction and backscattering coefficient. This dependence necessitates the exact value of the ratio between two parameters, that is, the lidar ratio. Also, Iidar ratio itself is useful optical parameter to understand properties of aerosols. Tropospheric aerosols were observed to understand variance of lidar ratio at Anmyeon island ($36.32^{/circ}N$, $126.19^{/circ}E$), Korea using a multi-wavelength raman lidar system developed by the Advanced Environmental Monitoring Research Center (ADEMRC), Gwangju Institute Science and Technology (GIST), Korea during measurement periods; March 15$\sim$April $16^{th}$, 2004 and May 24$\sim$ $8^{th}$ 2005. Extinction coefficient, backscattering coefficient, and lidar ratio were measured at 355 and 532 nm by the Raman method. Different types of aerosol layers were distinguished by the differences in the optical properties such as Angstrom exponent, and lidar ratio. The average value of lidar ratio during two observation periods was found to be $50.85\pm4.88$ sr at 355 nm and $52.43\pm15.15$ sr at 532 nm at 2004 and $57.94\pm10.29$ sr at 355 nm and $82.24\pm15.90$ sr at 532 nm at 2005. We conduct hysplit back-trajectory to know the pathway of airmass during the observation periods. We also calculate lidar ratio of different type of aerosol, urban, maritime, dust, continental aerosols using OPAC (Optical Properties of Aerosols and Clouds), Remote sensing of atmospheric aerosol using a multi-wavelengh lidar system with Raman channels is quite and powerful tool to characterize the optical propertises of troposheric aerosols.

Peroxisome Proliferator-Activated Receptor-Gamma Pro12Ala Polymorphism Could be a Risk Factor for Gastric Cancer

  • Zhao, Jing;Zhi, Zheng;Song, Guangyao;Wang, Juan;Wang, Chao;Ma, Huijuan;Yu, Xian;Sui, Aixia;Zhang, Hongtao
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권6호
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    • pp.2333-2340
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    • 2015
  • Background: Due to the strong inhibitory effects of $PPAR{\gamma}$ gene on the growth of cancer cells, the role of Pro12Ala polymorphism in $PPAR{\gamma}$ gene has been extensively investigated in cancer recently. However, the results were inconsistent according to cancer type. The aim of this study was to comprehensively evaluate the $PPAR{\gamma}$ Pro12Ala polymorphism and gastric cancer susceptibility. Materials and Methods: Search strategies were conducted in Pubmed, Medline (Ovid), Chinese biomedical database (CBM), China national knowledge infrastructure (CNKI), VIP, and Wanfang database, covering all publications, with the last search up to November 01, 2014. The strength of association between $PPAR{\gamma}$ Pro12Ala polymorphism and gastric cancer risk was assessed by OR with 95%CI. Results: A total of 546 cases and 827 controls in 5 case-control studies were included in this meta-analysis. The results indicated that the variant G allele carriers (CG+GG) had a 2.31 times higher risk for gastric cancer when compared with the homozygote CC (odds ratio (OR)=2.31, 95% confidence interval (CI)=1.67-3.21 for CG+GG vs. CC). In the subgroup analysis by ethnicity, significantly elevated risks were both found in Asians (OR=2.56, 95% CI=1.42-4.64) and Caucasians (OR=2.20, 95% CI=1.48-3.25). Similarly, in the subgroup analysis by H. pylori status, a significantly increased risk was identified in H. pylori (+) populations (OR=3.68, 95%CI=2.07-6.52), but not in H. pylori(-) populations (OR=1.17, 95%CI=0.58-2.39). Conclusions: This pooled analysis suggested that the $PPAR{\gamma}$ Pro12Ala polymorphism could be an independent predictive risk factor for gastric cancer especially in H. pylori infected populations in Asians and Caucasians. Nevertheless, prospectively designed cohort studies are needed to further investigate gene-gene and gene-environment interactions to confirm the combined effects of $PPAR{\gamma}$ Pro12Ala polymorphisms and H. pylori infection on gastric cancer risk.

Association between the Interleukin-17A -197G>A (rs2275913) Polymorphism and Risk of Digestive Cancer

  • Duan, Yin;Shi, Ji-Nan;Pan, Chi;Chen, Hai-Long;Zhang, Su-Zhan
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권21호
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    • pp.9295-9300
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    • 2014
  • Interleukin-17A (IL-17A) is a multifunctional cytokine which plays a crucial role in the initiation and progression of cancer. To date, several studies have investigated associations between IL-17A -197G>A (rs2275913) polymorphism and digestive cancer risk, but the results remain conflicting. We here aimed to confirm the role of this single nucleotide polymorphism (SNP) in susceptibility to digestive cancer through a systemic review and meta-analysis. Ten eligible case-control studies were identified by searching electronic databases, involving 3,087 cases and 3,815 controls. Odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were used to estimate the strength of the association. The results of overall analyses indicated that the variant A allele was associated with an increased risk of digestive cancer (AA vs GG: OR=1.51, 95%CI=1.18-1.93; AA vs GG+GA: OR=1.45, 95%CI=1.12-1.87; A vs G: OR=1.21, 95%CI=1.05-1.39). In subgroup analysis stratified by specific cancer type, elevated risk among studies of gastric cancer was found (AA vs GG: OR=1.68, 95%CI=1.24-2.28; AA vs GG+GA: OR=1.62, 95%CI=1.16-2.26; A vs G: OR=1.23, 95%CI=1.04-1.46). According to ethnicity, there was evidence in the Asian populations for an association between this polymorphism and cancer risk (GA vs GG: OR=1.19, 95%CI=1.05-1.36; AA vs GG: OR=1.56, 95%CI=1.15-2.12; AA+GA vs GG: OR=1.28, 95%CI=1.13-1.44; AA vs GG+GA: OR=1.42, 95%CI=1.01-2.00; A vs G: OR=1.24, 95%CI=1.08-1.44), while in the Caucasian populations an association was found in the recessive model (AA vs GG+GA: OR=1.62, 95%CI=1.17-2.24). In conclusion, the results of this meta-analysis suggest that the IL-17A -197G>A polymorphism contributes to an increased risk of human digestive cancer, both in the Asian and Caucasian populations and especially for gastric cancer.

모음 높이의 새로운 표기법에 대하여 (A new feature specification for vowel height)

  • 박천배
    • 대한음성학회지:말소리
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    • 제27_28호
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    • pp.27-56
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    • 1994
  • Processes involving the change of vowel height are natural enough to be found in many languages. It is essential to have a better feature specification for vowel height to grasp these processes properly, Standard Phonology adopts the binary feature system, and vowel height is represented by the two features, i.e., [\pm high] and [\pm low]. This has its own merits. But it is defective because it is misleading when we count the number of features used in a rule to compare the naturalness of rules. This feature system also cannot represent more than three degrees of height, We wi31 discard the binary features for vowel height. We consider to adopt the multivalued feature [n high] for the property of height. However, this feature cannot avoid the arbitrariness resulting from the number values denoting vowel height. It is not easy to expect whether the number in question is the largest or not It also is impossible to decide whether a larger number denotes a higher vowel or a lower vowel. Furthermore this feature specification requires an ad hoc condition such as n > 3 or n \geq 2, whenever we want to refer to a natural class including more than one degree of height The altelnative might be Particle Phonology, or Dependency Phonology. These might be apt for multivalued vowel height systems, as their supporters argue. However, the feature specification of Particle Phonology will be discarded because it does not observe strictly the assumption that the number of the particle a is decisive in representing the height. One a in a representation can denote variant degrees of height such as [e], [I], [a], [a ] and [e ]. This also means that we cannot represent natural classes in terms of the number of the particle a, Dependency Phonology also has problems in specifying a degree of vowel height by the dependency relations between the elements. There is no unique element to represent vowel height since every property has to be defined in terms of the dependency relations between two or more elements, As a result it is difficult to formulate a rule for vowel height change, especially when the phenomenon involves a chain of vowel shifts. Therefore, we suggest a new feature specification for vowel height (see Chapter 3). This specification resorts to a single feature H and a few >'s which refer exclusively to the degree of the tongue height when a vowel is pronounced. It can cope with more than three degrees of height because it is fundamentally a multivalued scalar feature. This feature also obviates the ad hoc condition for a natural class while the [n high] type of multivalued feature suffers from it. Also this feature specification conforms to our expection that the notation should become simpler as the generality of the class increases, in that the fewer angled brackets are used, the more vowels are included, Incidentally, it has also to be noted that, by adopting a single feature for vowel height, it is possible to formulate a simpler version of rules involving the changes of vowel height especially when they involve vowel shifts found in many languages.

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Variants on ESR1 and their Association with Prostate Cancer Risk: A Meta-analysis

  • Ding, Xiang;Cui, Feng-Mei;Xu, Song-Tao;Pu, Jin-Xian;Huang, Yu-Hua;Zhang, Jiang-Lei;Wei, Xue-Dong;Hou, Jian-Quan;Yan, Chun-Yin
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권8호
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    • pp.3931-3936
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    • 2012
  • Background: Epidemiological studies evaluating the association of two variants rs9340799 and rs2234693 on estrogen receptor 1 (ESR1) with prostate risk have generated inconsistent results. Methods: A meta-analysis was here conducted to systematically evaluate the relationship of these two variants with prostate cancer susceptibility. Results: For rs9340799, heterozygosity of T/C carriers showed a significant increased prostate cancer risk with a pooled odds ratio (OR) of 1.34 (95% CI = 1.06-1.69) while homozygote C/C carriers showed an increased but not statistically significant association with prostate cancer risk (pooled OR = 1.29, 95% CI = 0.94-1.79). Compared to the homozygous TT carriers, the allele C carriers showed a 31% increased risk for prostate cancer (pooled OR = 1.31, 95% CI = 1.06-1.63). No significant association between the rs2234693 and prostate cancer risk was found with the pooled OR of 1.15 (95% CI = 0.97-1.39, T/C and C/C vs. T/T) under the dominant genetic model. Compared to the homozygote T/T carriers, the heterozygous T/C carriers did not show any significantly different risk of prostate cancer (pooled OR = 1.13, 95% CI = 0.94-1.36) and the homozygous C/C carriers also did not show a significant change for prostate cancer risk compared to the wide-type T/T carriers (pooled OR = 1.26, 95% CI = 0.98-1.62). Conclusion: These data suggested that variant rs9340799, but not rs2234693, on ESR1 confers an elevated risk of prostate cancer.