• 제목/요약/키워드: Gene polymorphism

검색결과 1,603건 처리시간 0.024초

Genetic Variation of Pinus densiflora Populations in South Korea Based on ESTP Markers (ESTP 표지를 이용한 국내 소나무 집단의 유전변이)

  • Ahn, Ji Young;Hong, Kyung Nak;Lee, Jei Wan;Hong, Yong Pyo;Kang, Hoduck
    • Korean Journal of Plant Resources
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    • 제28권2호
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    • pp.279-289
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    • 2015
  • Genetic diversity and genetic differentiation of thirteen Pinus densiflora populations in South Korea were estimated using nine ESTP (Expressed Sequence Tag Polymorphism) markers. The numbers of allele and the effective allele were 2.2 and 1.8, respectively. The percentage of polymorphic loci (P) was 98.8%. The observed and the expected heterozygosity were 0.391 and 0.402, respectively, and the eleven populations except for Ahngang and Gangneung population were under Hardy-Weinberg equilibrium state. The level of genetic differentiation (Wright’s FST = 0.057) was higher than those of isozyme or nSSR markers. We could not find out any relationship between the genetic distance and geographic distribution among populations from cluster analysis. Also, the genetic differentiation between populations was not correlated with the geographic distance (r = 0.017 and P = 0.344 from Mantel test). From the result of FST-outlier analysis to identify a locus under selection, six loci were detected at confidence interval of 99% by the frequentist’s method. However, only three loci (sams2+AluⅠ, sams2+RsaⅠ, PtNCS_p14A9+HaeⅢ) were presumed as outliers by Bayesian method. The sams2+AluⅠ and sams2+RsaⅠlocus were originated from the sams2 gene and seemed to be the loci under balancing selection.

Development of Selectable Marker of High Oleate Trait in Peanut (Arachis hypogaea L.) (땅콩에서 고 올레인산 형질관련 분자마커의 선발)

  • Yang, Kiwoung;Pae, Suk-Bok;Park, Chang-Hwan;Lee, Myoung Hee;Jung, Chan-Sik;Son, Jeong-Hee;Park, Keum-Yong
    • Korean Journal of Breeding Science
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    • 제42권5호
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    • pp.507-514
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    • 2010
  • Peanut(Arachis hypogaea L.) is one of the major oilseed crops. The peanut oil consists of palmitic, oleic and linoleic acids, which are present at levels of 10%, 36-67% and 15-43%, respectively. High oleate mutant of peanut F435 contains 80% oleate and as little as 2% linoleate in seed oil. Previous study indicated that delta 12 fatty acid desaturase is a major enzyme controlling the oleate content in seeds of oilseed crops. F435 sequence alignment of their coding regions disclosed that an extra A(adenine) was inserted at the position +2,823 bp of delta 12 fatty acid desaturase gene. This study was to develop molecular marker (SNP marker) co-segregating with the high oleate trait. Chopyeong ${\times}$ F435 $F_2$ 41 population were investigated using molecular marker and fatty acid assay (NIR and gas chromatography). Finally, this marker segregates Chopyeong type 26 lines, heterotype 9 lines and F435 type 6 lines. These results in our study suggested that SNP marker conform fatty acid assay.

Identification of Salted Opossum Shrimp Using COI-based Restriction Fragment Length Polymorphism (COI 기반 제한효소 절편 길이 다형성(RFLP)을 이용한 새우젓 분석)

  • Park, Ju Hyeon;Moon, Soo Young;Kang, Ji Hye;Jung, Myoung Hwa;Kim, Sang Jo;Choi, Hee Jung
    • Journal of Life Science
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    • 제31권1호
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    • pp.66-72
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    • 2021
  • This study developed a species identification method for the salted opossum shrimp of Acetes japonicus, A. chinensis (Korea, China), A. indicus (I, II), and Palaemon gravieri based on PCR-RFLP markers. Genomic DNA was extracted from the salted opossum shrimp. The COI gene was used to amplify 519 base pairs (bp) using specific primers. The amplified products were digested by Acc I and Hinf I, and the DNA fragments were separated by automated electrophoresis for RFLP analysis. When the amplified DNA product (519 bp) was digested with Acc I, A. japonicus, A. chinensis (Korea), and A. indius (II) showed two fragments, whereas a single band of 519 bp was detected in A. chinensis (China) and A. indius (I). Also, in the RFLP patterns digested by Hinf I, A. chinensis (Korea) and A. chinensis (China) showed a single band of 519 bp, while two fragments were observed in A. japonicus and A. indius (I) and four fragments in A. indius (II). The PCR amplicon of P. gravieri was digested by Acc I into 3 bands of 271, 202, and 46 bp and by Hinf I into a single band of 519 bp. Therefore, salted opossum shrimp-specific RFLP markers showing distinct differences between four species and two sub-species by PCR-RFLP analysis. Thus, the PCR-RFLP markers developed in this study are a good method for identifying the six types of salted opossum shrimp.

Complete Mitochondrial Genome Sequences of Korean Phytophthora infestans Isolates and Comparative Analysis of Mitochondrial Haplotypes

  • Seo, Jin-Hee;Choi, Jang-Gyu;Park, Hyun-Jin;Cho, Ji-Hong;Park, Young-Eun;Im, Ju-Sung;Hong, Su-Young;Cho, Kwang-Soo
    • The Plant Pathology Journal
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    • 제38권5호
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    • pp.541-549
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    • 2022
  • Potato late blight caused by Phytophthora infestans is a destructive disease in Korea. To elucidate the genomic variation of the mitochondrial (mt) genome, we assembled its complete mt genome and compared its sequence among different haplotypes. The mt genome sequences of four Korean P. infestans isolates were revealed by Illumina HiSeq. The size of the circular mt genome of the four major genotypes, KR_1_A1, KR_2_A2, SIB-1, and US-11, was 39,872, 39,836, 39,872, and 39,840 bp, respectively. All genotypes contained the same 61 genes in the same order, comprising two RNA-encoding genes, 16 ribosomal genes, 25 transfer RNA, 17 genes encoding electron transport and ATP synthesis, 11 open reading frames of unknown function, and one protein import-related gene, tatC. The coding region comprised 91% of the genome, and GC content was 22.3%. The haplotypes were further analyzed based on sequence polymorphism at two hypervariable regions (HVRi), carrying a 2 kb insertion/deletion sequence, and HVRii, carrying 36 bp variable number tandem repeats (VNTRs). All four genotypes carried the 2 kb insertion/deletion sequence in HVRi, whereas HVRii had two VNTRs in KR_1_A1 and SIB-1 but three VNTRs in US-11 and KR_2_A2. Minimal spanning network and phylogenetic analysis based on 5,814 bp of mtDNA sequences from five loci, KR_1_A1 and SIB-1 were classified as IIa-6 haplotype, and isolates KR_1_A2 and US-11 as haplotypes IIa-5 and IIb-2, respectively. mtDNA sequences of KR_1_A1 and SIB-1 shared 100% sequence identity, and both were 99.9% similar to those of KR_2_A2 and US-11.

A Study of Influences of p53 Mutation, Cyclin D1 Over Expression, Ki67 Index, Mitotic Index on the Prognosis of Esophageal Squamous Cell Carcinoma (p53 변이, Cyclin D1의 과발현, Ki67 지수, 세포분열지수가 식도의 편평상피암의 예후에 미치는 영향)

  • Lee Hae Won;Cho Suk Ki;Sung Sook Whan;Lee Hyun Joo;Kim Young Tae;Kang Moon Chul;Kim Joo Hyun
    • Journal of Chest Surgery
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    • 제38권12호
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    • pp.835-843
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    • 2005
  • Background: Cancer of the esophagus is one of the most malignant tumors with poor prognosis. The p53 gene alteration, over expression of Cyclin D1, and Ki67 index were thought to be the prognostic factors. However, their clinical significances in esophageal squamous cell carcinoma are controversial and p53 accumulation may not correlate with genetic mutation. The current study investigates their prognostic significance in squamous cell carcinoma of the esophagus. Material and Method: The Subjects studied were 124 esophageal squamous cell carcinoma patients who underwent esophagectomy. The mutation of p53, over expression of Cyclin D1, Ki67 labelling index, mitotic index were examined by using an immunohistochemical staining. We compared the results and investigated the correlation with the mutation of p53, overexpression of Cyclin D1, Ki67 labelling index, mitotic index and tumor size, and duration of survival. Result: There was no correlation between the results in immunohistochemical staining according to age, sex, tumor size, Iymph node status, and clinical stage of the disease. Mutant p53 protein was found in 69 cases (55.6$\%$). Median survival time was 21 months in cases with negative for mutant p53 protein and 22 months in positive cases. There was no significant difference in survival (p=0.46). Median survival time was 22 months in cases with negative for Cyclin D1 and 16 months in positive cases (p=0.18). Median and mean survival time was 22 months and 36 months when Ki67 labeling index was 40 or less (102 cases). Median and mean survival was 16 months and 23 months, when Ki67 labeling index was more than 40 (22 cases). There was significant difference in survival rate (p=0.011). Conciusion: Positivity of p53 and cyclin D1 was not useful in predicting the prognosis in our study. There was no significant correlation among mutant p53 protein accumulation, Cyclin D1 over expression, and Ki67 labeling index. However, in several studies, PCR single strand conformational polymorphism analysis of p53 showed a correlation to the prognosis. We thought that there was a significant discordance between p53 gene mutation and mutant p53 protein accumulation. When Ki67 labeling index was more than 40, prognosis was poorer, Ki67 seems to be a prognostic factor in our study. Therefore, we confirmed the possibility of using molecular markers as prognostic factors.

SSR Profiling and Its Variation in Soybean Germplasm (콩 유전자원의 SSR Profiling과 변이)

  • Yoon, Mun-Sup;Lee, Jeong-Ran;Baek, Hyung-Jin;Cho, Gyu-Taek;Kim, Chang-Yung;Cho, Yang-Hee;Kim, Tae-San;Cho, Eun-Gi
    • KOREAN JOURNAL OF CROP SCIENCE
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    • 제52권1호
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    • pp.81-88
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    • 2007
  • The evaluation of soybean germplasm has mainly been carried out by morphological characters at Genetic Resources Division, Rural Development Administration (RDA). However, this information has been limited serving a diverse information for user and effectively managing the soybean germplasm. To resolve this problem, soybean collection conserved at RDA gene bank was profiled using nine soybean SSR (Simple Sequence Repeat) markers. Soybean SSR allele was confirmed using genescan and genotyper softwares of automatic sequencer for accurate genotyping of each accession and continuous accumulation of data. SSR profiling of soybean germplasm has been carried out from 2,855 (Satt458) to 4,368 (Satt197) accessions by locus. The number of allele revealed 267 with an average of 29.6 in total accession, and varied from a low of 21 (Satt532 and Satt141) to a high of 58 (Sat_074). Although the number of accessions of wild soybean is less than that of soybean landraces, Korean wild soybean is more variable than other soybean landraces populations in total number of alleles. However, Korean soybean landraces were more variable than Korean wild soybeans in 5 loci. In the allele frequency, wild soybean accessions showed an even distribution in all alleles and higher distribution in low ladder than in high ladder. Also, Korean soybean landraces revealed a high condensed frequency in Satt286 (202 bp, 232 bp), Chinese soybean landraces in Satt197 (171 bp) and Satt458 (173 bp), and Japanese soybean landraces in Sat_074 (244 bp) and Satt458 (170 bp). These SSR profile information will be provided as indications of redundancies or omissions of accessions and can aid in managing soybean collection held at RDA gene bank. The information on diversity analysis could help to enlarge the genetic diversity of materials in breeding program, and could be used to develop a core collection of soybean germplasm.

Diversity and Geographical Relationships by SSR Marker in Subgenus Soja Originated from Korea (SSR 마커에 의한 한국 원산 Soja 아속의 다양성과 지리적 유연관계)

  • Cho Yang-Hee;Yoon Mun-Sup;Lee Jeong-Ran;Baek Hyung-Jin;Kim Chang-Yung;Kim Tae-San;Cho Eun-Gi;Lee Hee-Bong
    • KOREAN JOURNAL OF CROP SCIENCE
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    • 제51권3호
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    • pp.239-247
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    • 2006
  • This study was carried out to investigate polymorphism, gene diversity, and geographical relationships of 81 Korean wild (Glycine soja) and 130 cultivated soybeans (G. max) using seven simple sequence repeat (SSR) markers. A total of 144 alleles were observed in 211 accessions with an average of 20.6. Each SSR loci showed 13 (Satt532) to 41 (Sat_074) multialleles. The range of alleles within the loci was wider in wild soybean than the cultivated soybeans. The average genetic diversity values were 0.88 and 0.69 in wild and cultivated soybeans, respectively. In a scatter diagram of wild and cultivated soybeans based on canonical discriminant analysis, CAN1 accounted for 84.2% while CAN2 did 8.5%. Two species were grouped into three: group I (G. max), group II (G. soja), and group III (complex of G. max and G. soja). The geographical relationships of wild soybean were distinguished into two groups: Gyeonggi for Group I, and Gyeongsang, Jeolla, Gangwon, and Chungcheong for Group II. Those of cultivated soybeans were distinguished into Gyeonggi, Gangwon, and Gyeongsang for Group I, and Jeolla and Chungcheong for Group II. Therefore, the geographical relationships of wild soybeans were well typified based on the ecosystems of the Korean peninsula.

Lead Pollution and Lead Poisoning among Children in China

  • Zheng, Yuxin
    • Proceedings of the Korean Environmental Health Society Conference
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    • 한국환경보건학회 2003년도 Challenges and Achievements in Environmental Health
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    • pp.24-25
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    • 2003
  • Lead is ubiquitous in the human environment as a result of industrialization. China's rapid industrialization and traffic growth have increased the potential for lead emissions. Lead poisoning in children is one of the most common public health problems today, and it is entirely preventable. Children are more vulnerable to lead pollution and lead in their bodies can affect their nervous, circulatory, and digestive systems. Children are exposed to lead from different sources (such as paint, gasoline, and solder) and through different pathways (such as air, food, water, dust, and soil). Although all children are exposed to some lead from food, air, dust, and soil, some children are exposed to high dose sources of lead. Significant sources of lead for China's children include industrial emissions (often close to housing and schools), leaded gasoline, and occupational exposure that occurs when parents wear lead-contaminated clothing home from work, burning of coal for home heat and cooking, contaminated food, and some traditional medicines. To assess the blood lead level in children in China, a large-scale study was conducted in 19 cities among 9 provinces during 1997 to 2000. There were 6502 children, aged 3-5 years, were recruited in the study The result indicates that the mean blood lead level was 8.83ug/dl 3-5 year old living in city area. The mean blood lead level of boys was higher than that of girls (9.1l ug/dl vs 8.73ug/dl). Almost 30 percent childrens blood lead level exceeded 10ug/dl. The average blood lead level was higher than that of in 1985 (8.83ug/dl vs 8.lug/dl). An epidemiological study was carried on the children living around the cottage industries recycling the lead from battery. Nine hundreds fifty nine children, aged 5-12 years, living in lead polluted villages where the lead smelters located near the residential area and 207 control children live in unpolluted area were recruited in the study. The lead levels in air, soil, drinking water and crops were measured. The blood lead and ZnPP level were tested for all subjects. The results show that the local environment was polluted. The lead levels both in the air and crops were much higher than that of in control area. In the polluted area, the average blood level was 49.6ug/dl (rang 19.5-89.3ug/dl). Whereas, in the unpolluted area, the average blood level was 12.4ug/dl (rang 4.6-24.8ug/dl). This study indicates that in some countryside area, some cottage industries induce seriously lead pollution and cause children health problem. For the introducing of unleaded gasoline in some large cities, such as Beijing and Shanghai, the blood lead level showed a declined trend since 1997. By 2000, the use of leaded gasoline in motor vehicles has been prohibited in China. The most recent data available show that levels of lead in blood among children in Shanghai decreased from 8.3ug/dl in 1997 to 7.6ug/dl in 1999. The prevalence rate of children lead poisoning (blood lead >10ug/dl) was also decreased from 37.8% to 24.8%. In children living in downtown area, the blood lead level reduced dramatically. To explore the relationship between gene polymorphisms and individual susceptibility of lead poisoning, a molecular epidemiological study was conducted among children living in lead polluted environment. The result showed that the subjects with ALAD2 allele has higher ZPP level, and the subjects with VDR B allele has larger head circumference than only with b allele. In the present study, we demonstrated that ALAD genotypes modify lead effects on heme metabolism and VDR gene variants influence the skull development in highly exposed children. The polymorphism of ALAD and VDR genes might be the molecular inherited factor modifying the susceptibility of lead poisoning. Recently, Chinese government pays more attention to lead pollution and lead poisoning in children problem. The leaded gasoline was prohibited used in motor vehicles since 2000. The government has decided to have a clampdown on the high-polluted lead smelters for recycling the lead from battery in countryside. It is hopeful that the risk of lead poisoning in children will be decreased in the further

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Association between polymorphisms in Interleukin-17 receptor A gene and childhood IgA nephropathy (IgA 신병증 환자에서 Interleukin-17 수용체 A 유전자의 단일염기다형성 연관성 연구)

  • Baek, Seung-Ah;Han, Won-Ho;Cho, Byoung-Soo;Kim, Sung-Do
    • Clinical and Experimental Pediatrics
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    • 제53권2호
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    • pp.215-221
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    • 2010
  • Purpose : Interleukin-17 (IL-17) is produced by activated CD4+T cells and exhibits pleiotropic biological activity on various cell types. IL-17 was reported to be involved in the immunoregulatory response in IgA nephropathy (IgAN). Our aim was to investigate the association between single-nucleotide polymorphisms (SNPs) in IL-17 receptor A (IL-17RA) gene and childhood IgAN. Methods : We analyzed the SNPs in the IL-17RA in 156 children with biopsy-proven IgAN and 245 healthy controls. We divided the IgAN patients into 2 groups and compared them with respect to proteinuria (${\leq}4$ and >$4mg/m^2/h$, ${\leq}40$ and >$40mg/m^2/h$, respectively) and the presence of pathological levels of biomarkers of diseases such as interstitial fibrosis, tubular atrophy, or global sclerosis. Results : No difference was observed between the SNP genotypes rs2895332, rs1468488, and rs4819553 between IgAN patients and control subjects. In addition, no significant difference was observed between allele frequency of SNPs rs2895 332, rs1468488, and rs4819553 between patients in the early and advanced stage of the disease. However, significant difference was observed between the genotype of SNP rs2895332 between patients with proteinuria (>$4mg/m^2/h$) and those without proteinuria (codominant model OR 0.36, 95% CI 0.19-.66, P <0.001; dominant model OR 0.35, 95% CI 0.17-.69 P =0.002; recessive model OR 0.12, 95% CI 0.01-.06 P =0.025). Conclusion : Our results indicate that the SNP in IL-17RA (rs2895332) may be related to the development of proteinuria in IgAN patients.

Association of Genetic Variations with Pemetrexed-Induced Cytotoxicity in Non-Small Cell Lung Cancer Cells (비소세포폐암 세포주에서 pemetrexed의 세포독성과 유전학적 다형성과의 상관성 조사)

  • Yoon, Seong-Ae;Choi, Jung-Ran;Kim, Jeong-Oh;Shin, Jung-Young;Zhang, XiangHua;Kang, Jin-Hyoung
    • Journal of Life Science
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    • 제20권1호
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    • pp.103-112
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    • 2010
  • Pemetrexed has demonstrated clinical activity in non-small cell lung cancer (NSCLC) as well as other solid tumors. It transports into the cells via reduced folate carrier (RFC) and is polyglutamated by folypolyglutamate synthetase (FPGS). Pemetrexed directly inhibits several folate-dependent enzymes such as thymidylate synthase (TS), dihydrofolate reductase (DHFR), and glycinamide ribonucleotide formyltransferase (GARFT). We investigated the effects of genetic variations and the expression of RFC, FPGS, TS and DHFR enzymes on drug sensitivity to pemetrexed in NSCLC cells. Polymorphisms in RFC, FPGS, and DHFR were genotyped in four NSCLC cells - A549, PC14, HCC-1588, and H226. Real-time RT-PCR and Western blot was performed to evaluate mRNA transcripts and protein of these genes. The cytotoxicity of pemetrexed was measured by SRB assay. In PC14 and H226 cells, increased mRNA expressions of RFC and FPGS were associated with higher cytotoxicity to pemetrexed. 2R/2R genotype of TS and its increased mRNA expression were associated with drug resistance to pemetrexed in A549 cells, whereas 3R/3R genotype in TS with decreased mRNA expression was associated with higher sensitivity in H226 cells. After pemetrexed treatment, an inverse change of DHFR mRNA and protein expression was found. The strongest linkage disequilibrium (LD) was discovered between-1726C>T and -1188A>C SNP of DHFR gene. Our findings suggest the cytotoxic effect of pemetrexed may be associated with genetic polymorphisms and the expression level of genes involved in pemetrexed metabolisms in NSCLC cells.