• Asian Pacific Journal of Cancer Prevention
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• 제13권8호
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• pp.3863-3868
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• 2012

In this study mitochondrial D-Loop variations in Iranian prostate cancer and benign prostatic hyperplasia (BPH) patients were investigated. Tumour samples and corresponding non-cancerous prostate tissue from 40 prostate cancer patients and 40 age-matched BPH patients were collected. The entire mtD-loop region (16024-576) was amplified using the PCR method and products were gel-purified and subjected to direct nucleotide sequencing. A total of 129 variations were found, the most frequent being 263A${\rightarrow}$G and 310T${\rightarrow}$C among both BPH and prostate cancer patients. Variation of 309 C${\rightarrow}$T was significantly more frequent in prostate cancer patients (P value<0.05). Four novel variations were observed on comparison with the MITOMAP database. Novel variations were np16154delT, np366G${\rightarrow}$A, np389G${\rightarrow}$A and 56insT. There was no correspondence between the different variations and the age of subjects. Considering that D-loop variations were frequent in both BPH and prostate cancer patients in our study, the fact that both groups had high average age can be a possible contributing factor. D-loop polymorphisms and microsatellite instability can influence cell physiology and result in a benign or malignant phenotype. Significantly higher frequency of 309 C${\rightarrow}$T variation in cancer patients is a notable finding and must be a focus of attention in future studies.

• Asian-Australasian Journal of Animal Sciences
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• 제18권8호
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• pp.1066-1070
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• 2005

To estimate the cumulative power of discrimination (CPD) existing within Haimen chicken populations in China, we isolated a total of 252 genomic DNAs from four chicken populations (Rugao, Jiangchun, Wan-Nan and Cshiqishi) through a saturated salt procedure. All the genomic DNAs were used in a polymerase chain reaction (PCR) with ten microsatellite markers. Amplified PCR-products with the selected markers were separated on a 12% polyacrylamide gel with pBR322DNA/MspI used as internal standard marker. Genetic diversity indices including mean allele number among loci, unbiased heterozygosity ($h_i$) within locus, effective number of alleles ($N_e$) and polymorphism information content (PIC) as well as the unbiased average heterozygosity (H) among loci in the populations were calculated using the generated allele frequencies by each marker. The mean allele number for all loci ranged between 4.00${\pm}$0.33 (Rugao) to 4.90${\pm}$0.48 (Cshiqishi) and across populations for all loci was 4.60${\pm}$0.20, while (H) ranged from 0.65${\pm}$0.03 (Rugao) to 0.69${\pm}$0.03 (Jiangchun) among loci and across populations, (H) was 0.67${\pm}$0.01. The generated unbiased average heterozygosity among loci in each population was integrated to the global formula of CPD and the result demonstrated that the CPD within the four Haimen chicken populations was 98.75%.

• Animal cells and systems
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• 제1권1호
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• pp.123-128
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• 1997

The characteristics of allelic polymorphisms of the two (CA)n microsatellite (p599 and ㅅ599) markers spanning the long arm of chromosome 5 were studied in 52 DNA samples from unrelated inhabitants of Seoul (Korea) by using the polymerase chain reaction (PCR) to investigate differences in allele frequencies between Korean and Caucasian populations. The 6 alleles were observed for p599 (CA)n with a polymorphism informative content (PIC) value of 0.71 and 9 alleles for ㅅ599 (CA)n with a PIC value of 0.82. The observed heterozygote frequencies of the loci were estimated to 0.730 and 0.846, respectively. Several allele frequencies of two loci showed significant differences between Korean and Caucasian populations. Genotype data from the two loci were consistent with the Hardy-Weinberg equilibrium by x2 test. Linkage disequilibrium between p599 (CA)n and ㅅ599 (CA)n loci was observed in x2 test between the observed and expected frequency of allelic association. The probability of matching calculated at each locus was 0.104 for p599 (CA)n and 0.043 for ㅅ599 (CA)n, respectively. These results demonstrate the need to determine populationspecific allele frequency distributions for polymorphic markers when performing genetic linkage studies in racially defined several populations.

• 한국육종학회지
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• 제40권2호
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• pp.119-127
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• 2008

A total of 41 microsatellite markers were used with 29 genotypes to examine the relationship between SSR polymorphisms and N-use efficiency related traits with a goal to identify the putative QTLs related to these traits. These primers yielded a total of 183 alleles (average 4.46 alleles per primer), and polymorphism information content (PIC) values of the SSRs ranged from 0.119 to 0.805 with mean value of 0.425. Correlation coefficients were obtained among the four N-use efficiency traits in the 34 accessions and significant positive correlations of relative ratios between grain yield and harvest index (r=0.3404) and total dry matter (r=0.7976), while N uptake showed a moderate level of correlation with the ratios of the grain yield and total dry matter, respectively. 36.5% (15/41) SSR markers were monomorphic among the 25 japonica accessions out of the 29 accessions. Association between SSR genotypes and phenotypic performances from the total (29) or japonica (25) accessions was tested based on a single point analysis. Three putative QTL regions were detected for the ratio of grain yield. These include the chromosomal region containing the RM283 locus on chromosome 1 and RM25 on chromosome 8 (all and japonica accessions) and the region with the SSR marker, RM206 on chromosome 11 (the japonica accessions). For the total dry matter ratio, two chromosomal regions were identified as the putative QTL region. One is the region with the SSR marker, RM162 on chromosome 6 (all and japonica accessions) and the other was the one with the SSR marker RM25 on chromosome 8 (the japonica accessions). Among these markers, RM25 showed associations with both traits.

• Journal of Animal Science and Technology
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• 제45권2호
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• pp.191-198
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• 2003

국내에서 사육중인 치와와 31두, 풍산개 20두, 래브라도 리트리버 8두를 대상으로 micro-satellite DNA형의 유전자 빈도에 기초하여 heterozygosity, PIC, 그리고 PE를 분석한 결과를 요약하면 다음과 같다. 치와와의 대립유전자 수는 4${\sim}$14개로서 expected heterozygosity와 PIC는 각각 0.432${\sim}$0.883 (평균 0.711), 0.397${\sim}$0.856(평균 0.659)으로 나타났으며 PEZ1, PEZ3, PEZ6, PEZ10, PEZ12의 marker는 PIC 0.7이상으로 나타났고 14개 marker를 조합시 부권부정율은 0.9999로 관찰되었다. 풍산개의 대립유전자 수는 2${\sim}$9개로서 expected heterozygosity와 PIC는 각각 0.262${\sim}$0.817 (평균 0.559), 0.222${\sim}$0.772 (평균 0.503)으로 나타났고 PEZ1, PEZ6, PEZ13의 marker는 PIC 0.7이상으로서 16개 marker를 조합시 부권부정율은 0.9991로 관찰되었다. 래버라도 리트리버의 대립유전자 수는 3${\sim}$5개로서 expected heterozygosity와 PIC는 각각 0.425${\sim}$0.808(평균 0.660), 0.354${\sim}$0.717(평균 0.563)으로 나타났고 PEZ8, PEZ12의 marker는 PIC 0.7이상으로 관찰되었으며 12개 marker를 조합시 부권부정율은 0.9968로 관찰되었다. 이상의 결과는 microsatellite DNA형에 의한 개의 친자감정 및 개체식별에 유용한 자료로 활용할 수 있을 것으로 사료된다.

• Tuberculosis and Respiratory Diseases
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• 제49권4호
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• pp.453-465
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• 2000

연구배경 : 폐암의 발생과정은 다양한 유전자 이상과 여러 가지경로 이상을 포함한 다단계 과정이다. 암유전자의 활성화나 종양억제유전자의 불활성화, 그리고 결과적인 유전적 불안정성의 증가는 폐암의 발암과정에서 일어나는 주요한 사건이며 임상적으로 폐암이 진단되기까지 10내지 20여 가지의 유전적 변화가 축적되는 것으로 알려져 있다. 본 연구에서 저자들은 비소세포폐암에서 종양억제유전자인 p53과 FHIT의 돌연변이, FHIT 유전자의 전사체 이상 여부를 확인하고 종양억제유전자부근에 위치하는 극소위성의 유전적 변화를 관찰하였다. 대상 및 방법 : 비소세포폐암으로 진단된 후 외과적 적출술을 시행받은 환자 29명의 생검조직과 그에 대응하는 동일인의 정상조직을 대상으로 하였다. p53과 FHIT의 돌연변이 여부는 PCR-SSCP, DNA 염기분석으로 확인하였고 D3S1285, D9S171, TP53에서 극소위성 불안정성과 이형접합성 상실은 PCR로 확인하였다. FHIT 유전자의 전사체 이상 여부 확인을 위해서는 RT-PCR을 사용하였다. 결과 : 1) p53 유전자의 2예에서 관찰되었고 모두 exon 5에서 1개의 염기가 치환되는 점돌연변이였다. 2) 극소위성 불안정성은 D3S1285와 D9S171에서 각각 2예, 1예, 이형접합성 상실은 D3S1285, D9S171, TP53에서 각각 3예, 4예, 7예가 관찰되었다. 3) FHIT 유전자의 변이는 11예에서 관찰되었으며 이중 6예는 exon 8의 codon 98에서 염기서열이 CAT가 CAC로 바뀌는 잠재적 치환이었다. 4) FHIT 유전자의 전사체 이상은 $\beta$-actin이 제대로 발현되는 15예중 4예에서 관찰되었으며 exon 6-9의 결실로 확인되었다. 결론 : 이상으로 비소세포폐암 발생에 p53, FHIT 유전자의 변이, 극소위성 불안정성과 이형접합성 상실 등 다양한 분자유전학적 기전이 복합적으로 작용할 것으로 생각되며 이번 연구에서 조사된 유전적 이상의 빈도는 앞서 발표된 서양의 연구결과와 대체적으로 일치한다. 특히 극소위성의 분석은 편평세포암에서 종양표지자로서의 역할이 기대된다. 이런 발암과정에 대한 이해는 예방, 진단 및 치료적 접근을 발전시키는데 도움을 줄 수 있을 것이고 향후 이들에 관한 가능적 연구들이 수행되어야 할 것이다.

• Asian-Australasian Journal of Animal Sciences
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• 제27권7호
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• pp.926-931
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• 2014

Pork from Jeju black pig (population J) and Berkshire (population B) has a unique market share in Korea because of their high meat quality. Due to the high demand of this pork, traceability of the pork to its origin is becoming an important part of the consumer demand. To examine the feasibility of such a system, we aim to provide basic genetic information of the two black pig populations and assess the possibility of genetically distinguishing between the two breeds. Muscle samples were collected from slaughter houses in Jeju Island and Namwon, Chonbuk province, Korea, for populations J and B, respectively. In total 800 Jeju black pigs and 351 Berkshires were genotyped at thirteen microsatellite (MS) markers. Analyses on the genetic diversity of the two populations were carried out in the programs MS toolkit and FSTAT. The population structure of the two breeds was determined by a Bayesian clustering method implemented in structure and by a phylogenetic analysis in Phylip. Population J exhibited higher mean number of alleles, expected heterozygosity and observed heterozygosity value, and polymorphism information content, compared to population B. The $F_{IS}$ values of population J and population B were 0.03 and -0.005, respectively, indicating that little or no inbreeding has occurred. In addition, genetic structure analysis revealed the possibility of gene flow from population B to population J. The expected probability of identify value of the 13 MS markers was $9.87{\times}10^{-14}$ in population J, $3.17{\times}10^{-9}$ in population B, and $1.03{\times}10^{-12}$ in the two populations. The results of this study are useful in distinguishing between the two black pig breeds and can be used as a foundation for further development of DNA markers.

• 한국버섯학회지
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• 제15권2호
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• pp.78-83
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• 2017

버섯과에서 한국, 중국, 일본에서 재배 또는 수집하여 농촌진흥청에 보관 중인 32개의 팽이버섯 계통에 대하여 조사하였다. 팽이버섯의 미소반복서열(microsatellite)을 포함하고 있는 490개의 DNA 단편을 얻었다. 다양한 팽이버섯 균들의 PCR을 통한 DNA 프로파일링을 수행함으로써 다형성 변이가 많이 검출되었다. 총 34개의 대립 유전자가 12개의 다형성 SSR 마커 중에서 검출되었고, 평균 3.42개의 대립 유전자와 대립 유전자의 수는 유전자좌당 2개에서 7개까지 분포하였다. 대립 형질 빈도는 0.42(GB-FV-127)에서 0.98(GB-FV-166)이었으며 이형접합체 관측치($H_O$)와 기대치($H_E$)는 각각 0.00에서 0.94(평균 = 0.18)와 0.03에서 0.67(평균 = 0.32)이었다. 다형성 지수는 (PIC) GB-FV-127 마커에서 가장 높은 0.61, 평균대립 유전자 수는 5를 나타내었고, GB-FV-166마커에서 0.03과 2로 가장 낮았다. 본 연구에서 평균 PIC 값(0.29)은 대립 유전자의 평균 수(3.42)로 관찰되었다. 결론적으로 우리는 풍부한 SSR 라이브러리에서 12 개의 다형성 SSR 마커를 개발하는데 성공했다. 이러한 SSR은 계통 발생 분석, 유전적 변이 평가에 중요하게 사용될 것이다.

• Journal of Ginseng Research
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• 제44권4호
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• pp.637-643
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• 2020

Background: Ginseng (Panax ginseng Meyer) is one of the world's most valuable medicinal plants with numerous pharmacological effects. Ginseng has been cultivated from wild mountain ginseng collections for a few hundred years. However, the genetic diversity of cultivated and wild ginseng populations is not fully understood. Methods: We developed 92 polymorphic microsatellite markers based on whole-genome sequence data. We selected five markers that represent clear allele diversity for each of their corresponding loci to elucidate genetic diversity. These markers were applied to 147 individual plants, including cultivars, breeding lines, and wild populations in Korea and neighboring countries. Results: Most of the 92 markers displayed multiple-band patterns, resulting from genome duplication, which causes confusion in interpretation of their target locus. The five high-resolution markers revealed 3 to 8 alleles from each single locus. The proportion of heterozygosity (H_e) ranged from 0.027 to 0.190, with an average of 0.132, which is notably lower than that of previous studies. Polymorphism information content of the markers ranged from 0.199 to 0.701, with an average of 0.454. There was no statistically significant difference in genetic diversity between cultivated and wild ginseng groups, and they showed intermingled positioning in the phylogenetic relationship. Conclusion: Ginseng has a relatively high level of genetic diversity, and cultivated and wild groups have similar levels of genetic diversity. Collectively, our data demonstrate that current breeding populations have abundant genetic diversity for breeding of elite ginseng cultivars.

• IMMUNE NETWORK
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• 제7권3호
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• pp.149-157
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• 2007

Background: The microsatellites within human leukocyte antigen (HLA) region show considerable polymorphism and strong linkage disequilibrium (LD) with HLA alleles. These microsatellites have been used for genetic analysis including disease mapping to understand susceptibility to autoimmune and infectious diseases. Also, use of microsatellites has recently been proposed as an approach for identifying non-HLA markers within the HLA region that could function as transplantation determinants and for the selection of potential donors for transplantation. Methods: To analyse the frequency of five microsatellites in the Korean population, genotyping for polymorphisms at five microsatellites markers (BAT2, MIB, DQCAR, D6S105 and TNFd) within HLA region was performed on 143 healthy Korean controls. Results: The most frequent genotype shown in healthy Korean controls were BAT2 8 (153 bp, 42.7%), MIB 1 (326 bp, 40.6%), DQCAR 3 (188 bp, 38.5%), D6S105 7 (126 bp, 58.0%) and TNFd 3 (128 bp, 58.0%). And common two-loci haplotypes were found as MIB 1-HLA-B*62 (HF: 10.6%), MIB 6-HLA-B*44 (HF: 7.8%), DQCAR 3-HLA-DRB1*13 (HF: 8.5%), TNFd 5-HLA-B*62 (HF: 7.8%) and D6S105 7-HLA-A*02 (HF: 16.2%). Conclusion: These data might provide useful information on the microsatellites markers with HLA region in Korean population and be helpful in further defining the clinical impact of these microsatellites.