• Journal of Plant Biology
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• 제37권3호
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• pp.277-284
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• 1994

I investigated levels of genetic diversity, population genetic structure, and gene flow in Hostacapitata, a herbaceous perennial native to South Korea and southwestern Japan. Starch gel electrophoresis was conducted on leaves collected from 310 plants in 19 Korean populations. Twenty-two of 25 putative loci examined were polymorphic in at least one populatin and the mean number of alleles per locus was 1.65. In addition, mean expected heterozygosity within populations (Hep=0.153) was higher than average values for species with similar life history traits. Significant differences in allele frequency were detected between populations at all loci (P<0.01), and slightly over 30% of the genetic variation was found among populatins (GST=0.308). Indirect estimates of the number of migrants per generation (Nm) (0.506, calculated from GST; 0.852, calculated from the mean frequency of ten private alleles) indicate that gene flow is restricted among the isolated Korean populations of H. capitata. Factors contributing to the high levels of genetic differentiation among populations of H. capitata include small and discrete populations, human disturbance, and low frequencies of pollinator foraging behavior.

• Interdisciplinary Bio Central
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• 제6권1호
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• pp.1.1-1.6
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• 2014

A growing body of evidence shows that most psychological traits are polygenic, that is they involve the action of many genes with small effects. However, the study of selection has disproportionately been on one or a few genes and their associated sweep signals (rapid and large changes in frequency). If our goal is to study the evolution of psychological variables, such as intelligence, we need a model that explains the evolution of phenotypes governed by many common genetic variants. This study illustrates simple statistical tools to detect signals of recent polygenic selection: a) ANOVA can be used to reveal significant deviation from random distribution of allele frequencies across racial groups. b) Principal component analysis can be used as a tool for finding a factor that represents the strength of recent selection on a phenotype and the underlying genetic variation. c) Method of correlated vectors: the correlation between genetic frequencies and the average phenotypes of different populations is computed; then, the resulting correlation coefficients are correlated with the corresponding alleles' genome-wide significance. This provides a measure of how selection acted on genes with higher signal to noise ratio. Another related test is that alleles with large frequency differences between populations should have a higher genome-wide significance value than alleles with small frequency differences. This paper fruitfully employs these tools and shows that common genetic variants exhibit subtle frequency shifts and that these shifts predict phenotypic differences across populations.

• Journal of Animal Science and Technology
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• 제50권5호
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• pp.633-640
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• 2008

소의 모색 발현에 결정적인 역할을 수행하며 Extension 좌위에 암호화되어 있는 melanocortin- 1 receptor(MC1R) 유전자형을 변형된 염기서열이 증폭되게 제작된 이중 mismatch primer 쌍을 이용하여 PCR-RFLP 방법으로 분석하였다. 증폭된 PCR 절편들은 MC1R 유전자에서 모색 표현형과 직접적으로 연관되어 있어 중요하게 다루어지고 있는 세 가지 대립인자들(ED, E+, e)로 MspI-과 AluI-RFLP에 의해 성공적으로 구분되었다. MC1R 유전자형의 분포를 조사한 결과 제주흑우는 세 가지 대립인자가 모두 출현하였고, 황－적모색의 한우와 호피문의 칡소에서는 흑모색우성 대립인자 ED가 출현하지 않았다. 반면, 우성흑모색으로 알려진 두 소 품종 Holstein과 Angus는 ED 대립인자의 빈도가 96% 이상으로 조사되었다. 한우×Holstein F1과 한우×Angus F1은 모두 ED/e의 유전자형을 나타내었고, 표현형은 전신 흑색으로 확인되었다. 본 연구에서 고안한 이중 mismatch primer 쌍을 이용한 MC1R 유전자 증폭 절편에 대한 MspI-과 AluI-RFLP 조합은 소의 품종 특성 규명과 품종 식별에서 매우 중요한 유전자 표지인자 중 하나인 MC1R 유전자의 세 가지 대립인자를 식별하는 데 유용한 실험기법이 될 것으로 사료된다.

• Journal of Preventive Medicine and Public Health
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• 제31권1호
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• pp.1-14
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• 1998

The genetically determined CYP2D6 activity as considered to be associated with cancer susceptibility with inter-individual variation. Genetic polymorphism of CYP2D6(B) and CYP2D6(T) was determined by the two polymerase chain reaction(PCR) and BstN1 and EcoN1 restriction fragment length polymorphisms(RFLP) for 67 lung cancer cases and 95 healthy volunteer controls. The cases were composed of 26 squamous cell carcinoma, 14 small cell carcinoma, 10 adenocarcinoma, 3 large cell undifferentiated carcinoma, and 14 not histologically diagnosed. The results were gained from the 142 subjects (57 cases and 85 controls) who observed successfully in two PCR and BstNl/EcoN1 RELP. Only one and no mutant allele of the CYP2D6(B) and CYP2D6(T) gene was detected, that is, the frequency of mutant allele was very low; 0.7%(1/142) and 0%(0/142), respectively. Detected mutant allele of the CYP2D6(B) was beterozygous type(WM). The odds ratios for lung cancer susceptibility with CYP2D6(B) and CYP2D6(T) genotype were not calculated. These results are similar to the previous understanding that the mutant allele is very rare in Orientals compared to Caucasians, therefore, it considered that CYP2D6(B) and CYP2D6(T) genotypes have maybe no association with lung cancer susceptibility in Koreans. This is the basic data of CYP2D6(B) and CYP2D6(T) genotypes for Koreans. It would be hepful for further study to determine lung cancer susceptibility of Koreans with the data about CYP1A1, CYP2E1, GSTM1 from future study.

• 생명과학회지
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• 제18권9호
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• pp.1225-1229
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• 2008

본 연구는 한우의 5번 염색체 내에 존재하고 있는 10개의 microsatellite marker의 대립유전자 빈도를 이용하여 한우의 경제형질과의 연관성을 지닌 좌위를 탐색하기 위하여 실시하였다. 한우 326두를 대상으로 10개의 유전좌위를 분석한 결과 총 169개의 대립유전자가 검출되었다. 모든 유전좌위에서 다형성이 검출되었으며 각 유전좌위 별 대립유전자의 수는 9에서 28개로 나타났으며 평균 16.9로 나타났다. 가장 높은 PIC 값을 가진 유전좌위는 DIK2400(0.908)이었으며 가장 낮은 유전좌위는 DIK2718 (0.603)으로 검출되었다. 관측된 이형접합도에서는 DIK1048 (0.655)가 가장 높게 나타났으며, DIK2400 (0.906)은 가장 낮은 것으로 검출되었다. 분석된 MS marker들의 대립유전자의 빈도를 이용하여 경제형질과의 연관성을 탐색하기 위하여 각 경제형질별 육종가를 대상으로 상위그룹과 하위그룹으로 나누어 Chi-square검정을 실시하였다. 분석결과 DIK2828의 239 대립유전자는 근내지방도에서 상위그룹과 하위그룹의 빈도차가 유의적인 차이를 보이는 것으로 나타났다. BMC1009의 279 대립유전자는 도체중과 등지방두께에서 유의적인 차이를 확인하였으며 285대립유전자는 도체중, 등지방두께 그리고 근내지방도에서 유의적인 차이가 확인되었다. DIK4329의 200대립유전자는 등심단면적과 등지방두께에서 유의적인 차이가 확인되었다. 본 연구에서 유의적인 차이가 확인된 유전자좌위는 5번 염색체 내 20 (DIK2828), 41 (BMC1009) 그리고 95 (DIK4329) cM로 나타났다.

• Asian-Australasian Journal of Animal Sciences
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• 제18권7호
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• pp.942-948
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• 2005

New polymorphism of major histocompatibility complex B-G genes was investigated by amplification and digestion of a 401bp fragment including intron 1 and exon 2 using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique with two restriction enzymes of Msp I and Tas I in eight breeds of Chinese indigenous chickens and one exotic breed. In the fragment region of the gene, three novel single nucleotide polymorphisms (SNPs) were detected at the two restriction sites. We found the transition of two nucleotides of A294G and T295C occurred at Tas I restriction site, and consequently led to a non-synonymous substitution of asparagine into serine at position 54 within the deduced amino acid sequence of immunoglobulin variable-region-like domain encoded by the exon 2 of B-G gene. It was observed at rare frequency that a single mutation of A294G occurring at the site, also caused an identical substitution of amino acid, asparagine 54-to-serine, to that we described previously. And the transversion of G319C at Msp I site led to a non-synonymous substitution, glutamine 62-to-histidine. The new alleles and allele frequencies identified by the PCR-RFLP method with the two enzymes were characterized, of which the allele A and B frequencies at Msp I and Tas I loci were given disequilibrium distribution either in the eight Chinese local breeds or in the exotic breed. By comparison, allele A at Msp I locus tended to be dominant, while, the allele B at Tas I locus tended to be dominant in all of the breeds analyzed. In Tibetan chickens, the preliminary association analysis revealed that no significant difference was observed between the different genotypes identified at the Msp I and Tas I loci and the laying performance traits, respectively.

• Tuberculosis and Respiratory Diseases
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• 제59권3호
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• pp.298-305
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• 2005

연구배경 : 폐쇄성 수면무호흡증후군은 다양한 원인에 의해 발생하게 된다. 주된 위험요소로는 비만과 좁은 상기도, 비정상적인 머리-얼굴 구조 등이 알려져 있으며 유전적 요인 또한 가족내 집단적 발생하였다는 보고들에 의해 뒷받침되고 있다. 본 연구에서 저자들은 HLA검사를 통하여 폐쇄성 수면무호흡증후군에서 유전학적인 배경을 규명하고자 하였다. 방 법 : 철야 수면다원검사로 진단한 25명의 폐쇄성 수면무호흡증후군 환자 (여자 1명과 남자 24명, 연령 30-66세)를 대상으로 하였으며 대조군은 200명의 건강한 한국인으로 하였다. HLA-A와 -B 대립유전자의 검사는 미세세포독성검사로 시행하였고 HLA-DRB1 유전자의 두번째 엑손의 다형성에 대한 분석은 PCRSSOP방법을 이용하여 시행하였다. 결 과 : HLA-A11 대립유전자의 빈도는 폐쇄성 수면무호흡증후군 환자군에서 대조군에 비해 유의하게 감소되어 있었다 (p<0.05). HLA-B 대립유전자의 빈도는 양군간에 유의한 차이가 없었다. HLA-DRB1 유전자의 다형태 분석에서는 DRB1*09의 빈도가 폐쇄성 수면무호흡환자군에서 대조군에 비해 유의하게 증가되어 있었다 (p <0.05). 환자군을 무호흡지수 45를 기준으로 경-중등증군과 중증군으로 나누어 대조군과 비교하였을 때 중증군에서 HLA-DRB1*08의 빈도가 유의하게 증가되어 있었다 (p <0.05). 결 론 : 한국의 폐쇄성 수면무호흡증후군 환자에서 HLAA11과 DRB1*09가 폐쇄성 수면무호흡증후군과 관련되어 있고, HLA-DRB1*08이 이 질환의 중증도와 연관되어 있음을 알 수 있었다. 이상의 결과는 폐쇄성 수면 무호흡 증후군의 발생뿐 아니라 경중도 여부에도 유전적인 요소가 중요한 역할을 한다는 것을 시사한다.

• The Plant Pathology Journal
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• 제24권1호
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• pp.1-7
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• 2008

Fusarium verticillioides (teleomorph Gibberella moniliformis) is associated with maize worldwide causing ear rot and stalk rot, and produces fumonisins, a group of mycotoxins detrimental to humans and animals. While research tools are available, our understanding of the molecular mechanisms associated with fungal virulence and fumonisin biosynthesis in F. verticillioides is still limited. One of the restraints that hampers F. verticillioides gene characterization is the fact that homologous recombination (HR) frequency is very low (<2%). Screening for a true gene knock-out mutant is a laborious process due to a high number of ectopic integrations. In this study, we generated a F. verticillioides mutant (SF41) deleted for FvKU70, a gene directly responsible for non-homologous end-joining mechanism, with the aim of improving HR frequency. Here, we demonstrate that FvKU70 deletion does not impact key Fverticillioides phenotypes, e.g., development, secondary metabolism, and virulence, while dramatically improving HR frequency. Significantly, we also confirmed that a high percentage (>85%) of the HR mutant strains harbor a desired mutation with no additional copy of the mutant allele inserted in the genome. We conclude that SF41 is suitable for use as a type strain when performing high-throughput gene function studies in F. verticillioides.

• Animal cells and systems
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• 제7권3호
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• pp.265-269
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• 2003

Vascular endothelial growth factor (VEGF) is a potent regulator of normal and abnormal angiogenesis. Recent literature suggests that VEGF has several activities that may amplify acute inflammation reactions. Dysregulated VEGF expression has been implicated as a major contributor to the development of a number of common disease pathologies. One of common mutations in the 3'- untranslated region of the VEGF gene, a C\longrightarrowT exchange at nucleotide position 936, has been found to be significantly associated with VEGF expression levels in the plasma from a previous Austrian study. The frequency of this mutation could be important genetic information regarding tumor growth and angiogenesis related diseases. The aim of this study was to investigate the frequency distribution of this mutation in general Korean population. We examined the statistical data from 207 healthy Korean subjects. Observed numbers (%) of 936T were 28.5 (CT) and 3.9 (TT), respectively. The mutant allele frequency of 936T in Korean subjects was 0.18, which appeared somewhat higher than that in Austrian subjects.

• 한방재활의학과학회지
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• 제21권4호
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• pp.157-165
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• 2011

Objectives: The aim of this study is to establish the association of GNB3 with obesity-index, blood pressure, glucose and lipid level. Methods: A total of 209 Korean obese subjects participated in the study. Body weight, body mass index(BMI), waist circumference, body fat, body fat mass, resting metabolic rate, blood pressure, total cholesterol, high density lipoprotein, triglyceride and fasting blood sugar test were measured by using standardized protocols. The GNB3 was genotyped by using polymerase chain reaction with restriction fragment length polymorphism. Results: The frequency of CC, CT, TT genotype were, respectively, 18,2%, 56.9%, 24,9%, and the frequency of T allele was 53.3% in Korean obese population. There were no association of GNB3 with obesity index, blood pressure, glucose and lipid level in Korean obese population. Conclusions: Obese Korea population have a higher frequency of T alle than general Korean population. There are no association of GNB3 with obesity index, blood pressure, glucose and lipid level in Korean obese population.