• Proceedings of the National Institute of Ecology of the Republic of Korea
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• 제2권2호
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• pp.120-128
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• 2021

The objective of this study was to analyze the genotype of black-spotted pond frog (Pelophylax nigromaculatus) using seven microsatellite loci to quantify its genetic diversity and population structure throughout the spatial scale of basins of Han, Geum, Yeongsan, and Nakdong Rivers in South Korea. Genetic diversities in these four areas were compared using diversity index and inbreeding coefficient obtained from the number and frequency of alleles as well as heterozygosity. Additionally, the population structure was confirmed with population differentiation, Nei's genetic distance, multivariate analysis, and Bayesian clustering analysis. Interestingly, a negative genetic diversity pattern was observed in the Han River basin, indicating possible recent habitat disturbances or population declines. In contrast, a positive genetic diversity pattern was found for the population in the Nakdong River basin that had remained the most stable. Results of population structure suggested that populations of black-spotted pond frogs distributed in these four river basins were genetically independent. In particular, the population of the Nakdong River basin had the greatest genetic distance, indicating that it might have originated from an independent population. These results support the use of genetics in addition to designations strictly based on geographic stream areas to define the spatial scale of populations for management and conservation practices.

• 식물분류학회지
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• 제53권1호
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• pp.14-24
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• 2023

Saussurea dorogostaiskii Palib. (Asteraceae) is a critically endangered medicinal plant in Mongolia and Russia. We studied the genetic variation of S. dorogostaiskii from three mountains of northern Mongolia. The genetic profile was assessed in 70 individuals from eight populations using five inter-simple sequence repeat markers, producing 53 loci with 96.4% polymorphism across all bands. Shannon's index (I) and Nei's gene diversity (H) value at the species level of S. dorogostaiskii are 0.25 and 0.17, respectively. An AMOVA showed high genetic variation among the populations (22% of populations and 32% of mountains), consistent with the high genetic differentiation (G_ST = 0.49) and low gene flow (N_m = 0.51) in S. dorogostaiskii populations. Eight populations were clustered into two groups, corresponding to their geographic locations. The low within-population genetic diversity and high genetic differentiation among S. dorogostaiskii populations factor into their endangered designation. This genetic analysis reveals that all populations are equally threatened, and community-based conservation is appropriate for these species.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 춘계학술대회
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• pp.110-110
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• 2022

Rice is the world's most important food crop and a major source of nutrition for about two thirds of populations. Northern Vietnam is one of the most important centers of genetic diversity for cultivated rice. In this study, we determined the genetic diversity and population structure of 79 rice landraces collected from northern Vietnam and 19 rice accessions collected from different countries. In total, 98 rice accessions could be differentiated into japonica and indica with moderate genetic diversity and a polymorphism information content of 0.382. We also detected subspecies-specific markers to classify rice (Oryza sativa L.) into indica and japonica. Additionally, we detected five marker-trait associations and rare alleles that can be applied in future breeding programs. Most interestingly, analysis of molecular variance (AMOVA) found genetic differentiation was related to geographical regions with an overall PhiPT (analog of fixation index FST) value of 0.130. More emphasis was given to provide signatures and infer explanations about the role of geographical isolation and environmental heterogeneity in genetic differentiation among regions in landraces from northern Vietnam. Our results suggest that rice landraces in northern Vietnam have a dynamic genetic system that can create different levels of genetic differentiation among regions, but also maintain a balanced genetic diversity between regions.

• Anatomy and Cell Biology
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• 제56권1호
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• pp.94-108
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• 2023

Cancer cell heterogeneity is a serious problem in the control of tumor progression because it can cause chemoresistance and metastasis. Heterogeneity can be generated by various mechanisms, including genetic evolution of cancer cells, cancer stem cells (CSCs), and niche heterogeneity. Because the genetic heterogeneity of CSCs has been poorly characterized, the genetic mutation status of CSCs was examined using Exome-Seq and RNA-Seq data of liver cancer. Here we show that different surface markers for liver cancer stem cells (LCSCs) showed a unique propensity for genetic mutations. Cluster of differentiation 133 (CD133)-positive cells showed frequent mutations in the IRF2, BAP1, and ERBB3 genes. However, leucine-rich repeat-containing G protein-coupled receptor 5-positive cells showed frequent mutations in the CTNNB1, RELN, and ROBO1 genes. In addition, some genetic mutations were frequently observed irrespective of the surface markers for LCSCs. BAP1 mutations was frequently observed in CD133-, CD24-, CD13-, CD90-, epithelial cell adhesion molecule-, or keratin 19-positive LCSCs. ASXL2, ERBB3, IRF2, TLX3, CPS1, and NFATC2 mutations were observed in more than three types of LCSCs, suggesting that common mechanisms for the development of these LCSCs. The present study provides genetic heterogeneity depending on the surface markers for LCSCs. The genetic heterogeneity of LCSCs should be considered in the development of LCSC-targeting therapeutics.

• 대한의생명과학회지
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• 제30권2호
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• pp.65-72
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• 2024

The national diabetes and prediabetes prevalence rate has risen among Korean adolescents and adults. Type 2 diabetes mellitus (T2DM) is commonly interrelated with genetic, metabolic, and environmental risk factors in clinical practice. In this study, we analyzed the association between genetic polymorphisms of the ABO gene with T2DM in the Korean population, we conducted an analysis of gene-phenotype correlation, based on an additive genetic model. A total of 8,840 subjects from the Korea Association REsource (KARE) were selected for this study. Using the genetic and epidemiologic data of 754 T2DM cases and 5721 normal controls from the KARE, single nucleotide polymorphisms (SNPs) in the ABO gene were analyzed for their genetic correlation. As a result, 8 SNPs out of the ABO gene demonstrated statistically significant association with T2DM. Among them, rs657152 in the ABO gene statistically showed the most significant correlation with T2DM (P-value=0.0084, OR=1.15, CI=1.04~1.28). The minor allele of A polymorphism within the intron genetic region of ABO directed increased risk of T2DM. This work reveals a significant association between genetic polymorphism in the ABO gene and T2DM. This finding suggested that ABO SNPs markers might be a genetic correlation to the etiology of T2DM.

• 의료법학
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• 제18권1호
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• pp.237-264
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• 2017

인간게놈프로젝트의 시작과 함께 그 사회적 부작용의 하나로 거론되었던 '유전정보 차별'의 문제가 아직 우리나라에서 크게 부각된 적은 없다. 그러나 2016년 6월 30일부터 시행된 "생명윤리 및 안전에 관한 법률"이 의료기관이 아닌 유전자검사기관의 유전자검사를 예외적으로 허용하자, 국내의 한 보험회사가 신규 암보험 가입자를 대상으로 DTC 유전자 검사를 별도의 무료 서비스로 제공하겠다고 하여 유전자 검사와 관련된 사회적 변화를 실감케 한 바 있다. 정밀의료가 의료의 새로운 표준으로 성큼 다가온 현 시점에서 유전정보 차별에 관한 규율은 더 이상 미룰 수 없는 문제가 되었다. 우리나라는 생명윤리법 제46조, 제67조에서 유전정보를 이유로 한 차별의 금지와 그 위반행위에 대한 벌칙을 규정하고 있지만, 이러한 광범위한 원칙 규정만으로는 보험, 고용 등 구체적인 유전정보 활용 영역에서의 문제점들을 충분히 해결할 수 없다. 미국, 캐나다, 영국, 독일은 상이한 방식으로 유전정보 차별의 문제를 다루고 있다. 미국의 "Genetic Information Non-Discrimination Act"의 경우, 건강보험과 관련된 부분은 기존의 법에 유전정보 차별금지에 관한 내용을 추가하는 형식을 취하고 있다. 또 개인과 그 가족의 유전자 검사 결과 외에 '가족력'까지 포함하여 유전정보의 범위를 매우 넓게 규정하고 있다. 캐나다는 2017년 비교적 최근에 법을 제정하였는데, 보험과 고용 외에 '상품이나 서비스의 거래'에까지 적용범위를 확장하고 있다. 영국은 유전자 검사 중 '개인의 예측적 유전자 검사'에 대해서만 다루고 있는데, 보험의 경우 영국정부와 보험협회의 '협약'을 통해 유전정보의 활용을 2019년까지 유예하는 방식으로 규율하고 있고, 고용의 영역은 ICO가 만든 'Employment Practices Code(2011)'가 기준으로 활용되고 있다. 독일은 유전자 검사에 관한 법 "Gesetz ${\ddot{u}}ber$ genetische Untersuchungen bei Menschen"에서 고용과 보험에서의 유전자 검사 및 그 결과 제출 요구의 원칙적 금지를 규정하고 있다. 이와 같이 각 나라마다 규율형식, 적용범위 뿐만 아니라 규율의 실효성에 대한 평가도 매우 상이하다. 이러한 점에 비추어 보았을 때 우리나라의 유전정보 차별에 관한 규제 역시 관련 규정의 검토, 전문가 집단의 참여 및 이해관계자의 협력을 통해 여러 규제안의 장 단점을 충분히 검증한 후 입법의 단계로 나아가는 것이 바람직할 것이다.

• Asian-Australasian Journal of Animal Sciences
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• 제17권10호
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• pp.1355-1359
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• 2004

Japanese Black cattle of Hyogo prefecture (Tajima strain) are famous for its ability to produce high-quality meat and have been maintained as a closed system for more than 80 years. In order to assess the usefulness of microsatellite markers in closed cattle populations, and evaluate the genetic structure of the Tajima strain, we analyzed representative dams of the Tajima strain comprised of the substrains Nakadoi and Kinosaki. Genetic variability analyses indicated low genetic diversity in the Tajima strain. In addition, a recent genetic bottleneck, which could be accounted for by the high level of inbreeding, was detected in both substrains. In phylogenetic analyses, relationship coefficients and genetic distances between individuals were calculated using pedigree and microsatellite information. Two phylogenetic trees were constructed from microsatellite and pedigree information using the UPGMA method. Both trees illustrated that most individuals were distinguished clearly on the basis of the two substrains, although in the microsatellite tree some individuals appeared in clusters of different substrains. Comparing the two phylogenetic trees revealed good consistency between the microsatellite analysis tree and the pedigree information. The correlation coefficient between genetic distances derived from microsatellite and pedigree information was 0.686 with a high significance level (p<0.001). These results indicated that microsatellite information may provide data substantially equivalent to pedigree information even in unusually inbred herds of cattle, and suggested that microsatellite markers may be useful in revealing genetic structure without accurate or complete pedigree nformation. Japanese Black cattle of Hyogo prefecture (Tajima strain) are famous for its ability to produce high-quality meat and have been maintained as a closed system for more than 80 years. In order to assess the usefulness of microsatellite markers in closed cattle populations, and evaluate the genetic structure of the Tajima strain, we analyzed representative dams of the Tajima strain comprised of the substrains Nakadoi and Kinosaki. Genetic variability analyses indicated low genetic diversity in the Tajima strain. In addition, a recent genetic bottleneck, which could be accounted for by the high level of inbreeding, was detected in both substrains. In phylogenetic analyses, relationship coefficients and genetic distances between individuals were calculated using pedigree and microsatellite information. Two phylogenetic trees were constructed from microsatellite and pedigree information using the UPGMA method. Both trees illustrated that most individuals were distinguished clearly on the basis of the two substrains, although in the microsatellite tree some individuals appeared in clusters of different substrains. Comparing the two phylogenetic trees revealed good consistency between the microsatellite analysis tree and the pedigree information. The correlation coefficient between genetic distances derived from microsatellite and pedigree information was 0.686 with a high significance level (p<0.001). These results indicated that microsatellite information may provide data substantially equivalent to pedigree information even in unusually inbred herds of cattle, and suggested that microsatellite markers may be useful in revealing genetic structure without accurate or complete pedigree information.

• 한국산림과학회지
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• 제105권3호
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• pp.309-314
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• 2016

변화하는 자연환경에서 식물이 생존하기 위해서는 적절한 유전다양성을 유지할 뿐 아니라 지역적응성을 갖추어야 세대를 성공적으로 이어나갈 수 있다. 만약 유전다양성이 급격히 감소하게 된다면 집단이 쇠퇴하고 소멸 위험성이 커지게 된다. 본 연구는 주변 집단으로 부터 화분이나 종자의 유입이 어려운 소규모 사시나무 집단의 유전구조를 구명하였다. 월악산 미륵리의 사시나무림은 전체 분포면적 $14,000m^2$에 성목은 350개체로 추정되며, 임분내에 설정한 $70m{\times}70m$ 조사구에 출현하는 123개체 중 61개체를 대상으로 AFLP 마커를 이용하여 유전변이를 분석하였다. 조사구내 사시나무의 수령은 평균 16년 최고 32년생이었으며, 개체의 공간적 분포는 약한 밀집 형태를 이루고 있었다. AFLP primer 6조합에서 196개 증폭산물을 확인하였으며, 이 중 151개는 다형성을 보였다. primer 조합당 평균 유전자좌수는 32.7(표준편차=7.2), 이형접합도 기대치($H_e$)는 0.154, Shannon의 다양성 지수(S.I.)는 0.254로 나타나서, 월악산 사시나무는 우리나라 사시나무 집단 평균에 비하여 매우 낮은 유전다양성을 갖고 있는 것으로 나타났다. 공간적 유전구조는 24 m 이내에서 분포하는 개체들 간에 유전적 유사성이 나타났으며, 소규모 면적과 고립된 분포지 특성으로 인하여 비교적 작은 유전군락이 형성된 것으로 생각된다.

• Asian-Australasian Journal of Animal Sciences
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• 제19권9호
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• pp.1234-1239
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• 2006

Murrah and NiliRavi are the important North Indian buffalo breeds occupying the prominent position of being the highest milk producers. These breeds are more or less similar at morphological as well as physiological levels. The technique of RAPD-PCR was applied in the present study to identify a battery of suitable random primers to detect genetic polymorphism, elucidation of the genetic structure and rapid assessment of the differences in the genetic composition of these two breeds. A total of 50 random primers were screened in 24 animals each of Murrah and NiliRavi buffaloes to generate RAPD patterns. Of these, 26 (52%) primers amplified the buffalo genome generating 263 reproducible bands. The number of polymorphic bands for the 26 chosen RAPD primers varied from 3 (OPG 06 and B4) to 26 (OPJ 04) with an average of 10.1 bands per primer and size range of 0.2 to 3.2 kb. DNA was also pooled and analyzed to search for population specific markers. Two breed specific RAPD alleles were observed in each of Murrah (OPA02 and OPG16) and NiliRavi (OPG09) DNA pools. RAPD profiles revealed that 11 (4.2%) bands were common to all the 48 individuals of Murrah and NiliRavi buffaloes. Pair-wise band sharing calculated among the individual animals indicated considerable homogeneity of individuals within the breeds. Within breed, band sharing values were relatively greater than those of interbreed values. The low genetic distance (Nei's) value (0.109) estimated in this study is in accordance with the origin and geographical distribution of these breeds. The RAPD analysis indicated high level of genetic similarity between these two important North Indian buffalo breeds.

• Asian-Australasian Journal of Animal Sciences
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• 제6권4호
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• pp.497-507
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• 1993

Four truncation selection schemes (SSs) were framed to predict and compare the age structures and genetic responses under the influence of various factor employing the scheme-specific algorithms. Two paths of selection, sires (bulls' sires) and dams (bulls' dams) to breed young bulls were considered. Among variable factors, four levels (0.3, 0.5, 0.7, 0.9) of precision of evaluation, five levels (0.0, 0.05, 0.10, 0.15, 0.20 genetic standard deviation) of genetic differences among age classes and 4 levels of proportions selected (for bulls' sire, 0.05, 0.10, 0.125, 0.25, and for bulls' dams 0.02, 0.04, 0.05, and 0.10) contemplated on both paths of selection. The number of age classes for bulls' dams and bulls' sires were 4 or 8 and 2 or 4, respectively. The stayability across age classes for bulls' dams was assumed to be 0.80 or 0.60. The candidates for selection for bulls' sires were equally distributed (0.5 or 0.25) across the age classes. The SS1 (selection on same proportions as candidates' distribution) revealed longest generation lengths and lowest yearly genetic responses. The average ages were youngest and yearly genetic responses were highest in SS4 (selection at each age-specific truncation point with the same average genetic superiority of selected parents across the ages) and followed by SS3 (selection at each agespecific truncation point with same predicted genetic values) and SS2 (selection at common truncation point on phenotypic values) in a population with overlapping generations. The results revealed the importance of choosing suitable selection scheme to acquire maximum yearly genetic responses especially when the genetic differences among age classes are large and the precision of evaluation is relatively low.