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  • Title/Summary/Keyword: Genetic Association

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DNA Methylation of Multiple Genes in Gastric Cancer: Association with CpG Island Methylator Phenotype and Helicobocter pylori Infection (위암에서 유전자 메틸화와 CpG Island Methylator Phenotype 및 Helicobacter pylori균 감염과의 연관성)

  • Jun, Kyong-Hwa;Won, Yong-Sung;Shin, Eun-Young;Cho, Hyun-Min;Im, Myoung-Goo;Chin, Hyung-Min;Park, Woo-Bae
    • Journal of Gastric Cancer
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    • v.6 no.4
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    • pp.227-236
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    • 2006
  • Purpose: Methylation of gene regulatory elements plays an important role in gene inactivation without genetic alteration. Gastric cancer is one of the tumors that exhibit a high frequency of CpG island hypermethylation. The purpose of this study was to investigate the occurrence of CpG island hypermethylation in gastric carcinoma in relation to H. pylori infection, CIMP and clincopathologic variables. Materials and Methods: We investigated the promoter methylation Status of six genes (hMLH1, p16, p14, COX-2, MGMT, E-cadherin) and CIMP in 36 gastric carcinoma tissues as well as in nontumor tissues. CIMP status was investigated by examining the methylation status of MINT 1, 2, 12, 25 and 31. The methylation status of the promoter was examined by methylation-specific PCR (MSP) and H. pylori infection was examined by histological diagnosis after staining with Warthin-Starry silver. Results: Among the 36 gastric carcinoma tissues, DNA hypermethylation was detected in the following frequencies: 14 (38.9%) for p14, 13 (36.1%) for p16, 8 (22.2%) for MGMT, 10 (27.8%) for COX-2, 21 (58.3%) for E-cadherin, and 6 (16.7%) for hMLH1. The frequencies for MINT1 and MINT25 hypermethylation were significantly higher in tumor tissues than in nontumor tissues. 16 (44.4%) of the 36 gastric carcinoma tissues were positive for the CIMP CIMP-H tumors were associated with older patients and larger tumor size than CIMP-L tumors. We found a significant association between the presence of the CIMP and hypermethylation of p16. Hypermethylation of p16 and MINT2 were significantly different when compared by age. MINT1 gene methylation was significantly associated with H. pylori infection (P=0.004). Conclusion: Our results suggest that aberrant hypermethylation of multiple tumor related genes (hMLH1, p16, p14, COX-2, MGMT, E-cadherin, MINT1, 2, 12, 25, 31) occurs frequently in gastric carcinoma tissues. The hypermethylation of MINT1 was significantly higher in the tumor tissues and was associated with H. pylori infection.

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Association Analysis of the 6-bp Deletion Variant of the MYH3 Gene with Meat Color Traits in Crossbred (Landrace × Jeju Native Black Pig) Pigs (제주재래흑돼지와 랜드레이스 교배 축군에서 MYH3 유전자의 6-bp 결실 변이와 육색 형질간의 연관성 분석)

  • Kang, Yong-Jun;Kim, Sang-Geum;Kim, Su-Yeon;Kim, Min-Ji;Kim, Hyeon-Ah;Shin, Moon-Cheol;Yoo, Ji-Hyun;Yang, Byoung-Chul;Cho, In-Cheol
    • Journal of Life Science
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    • v.31 no.7
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    • pp.626-630
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    • 2021
  • This study was conducted to examine the association between the myosin heavy chain 3 (MYH3) in 6-bp deletion variant genotypes and meat color traits in a crossbred pig population Landrace and Jeju native black pigs (JNBP). The longissimus dorsi, semimembranosus, triceps brachii and biceps femoris muscle from each carcass were used for the analysis of meat color traits. A total of 187 pigs and three meat color traits, CIE L* (lightness), CIE a* (redness), and CIE b* (yellowness), were analyzed. All experimental pigs were successfully genotyped for the MYH3 6-bp deletion variant using Polymerase chain reaction (PCR) analysis. We detected three MYH3 6-bp deletion variant genotypes qq, Qq, and QQ with 0.091, 0.551 and 0.358 genotype frequencies, respectively. Compared to qq homozygotes, the MYH3 6-bp deletion QQ genotype animals showed a higher levels of the meat colors traits CIE L* (lightness), CIE a* (redness), and CIE b* (yellowness) in longissimus dorsi (p>0.05, p<0.001, p<0.001), semimembranosus (p>0.05, p<0.001, p<0.001), triceps brachii (p<0.001, p<0.001, p<0.001), and biceps femoris (p<0.01, p<0.001, p<0.001), respectively. The QQ genotype pigs was associated with increasing meat color traits in the crossbred between Landrace and JNBP. Our findings suggest that the MYH3 6-bp deletion variant genotypes can be used as valuable genetic markers for JNBP-related breeding programs to improve meat quality and control meat color traits.

Community Structure of Pinus densiflora and Quercus mongolica forest in Jochimryeong to Shinbaeryeong of the Baekdudaegan (백두대간 조침령-신배령 구간 소나무림과 신갈나무림의 군락구조)

  • Lee, Ha Young;Kim, Hye Jin;Shin, Hak Sub;Han, Sang Hak;Ko, Seung Yeon;Song, Ju Hyeon;Lee, Jung Hyo;Jang, Kyung Hwan;Yun, Chung Weon
    • Journal of Korean Society of Forest Science
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    • v.103 no.3
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    • pp.339-352
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    • 2014
  • The study was carried out to analyze vegetation structure of Pinus densiflora and Quercus mongolica forests located in Jochimryeong to Shinbaeryeong of the Baekdudaegan mountain range. The survey for 50 plots was conducted from April 2012 to August 2013 in the permanent plots (100m×100m) using phytosociological analysis. As a result, the vegetations were classified into five vegetation units. In species composition, they were classified into Q. mongolica community group divided into 2 community such as Fraxinus rhynchophylla community and Carpinus cordata community, F. rhynchophylla community was subdivided Pinus densiflor group (into Euonymus sachalinensis subgroup, Vitis coignetiae subgroup) and Juglans mandshurica group. C. cordata community was subdivided Acer komarovii group and Betula ermanii group. In terms of importance value, P. densiflora and Q. mongolica were more than 20% respectively. P. densiflora was found to have the highest relative coverage. Analysis of interspecific association showed four types which were coincident with differential species and character species on the constancy table. Based on the diameter class distribution, P. densiflora forest presented a normal distribution pattern except for other species which showed a reverse Jshaped distribution pattern, therefore P. densiflora forest would likely be replaced by Q. mongolica forests. While in Q. mongolica forest, diameter class distribution of all species population presented a reverse J-shaped distribution pattern, therefore Q. mongolica forest could likely remain in the future.

Mitochondrial DNA Mutation (3243A→G,1555A→4G,7445A→G) in Noise-Induced (소음성 난청에서의 Mitochondrial DNA A3243G, A1555G, A7445G 돌연변이)

  • Hong Young-Seoub;Nishio Hisahide;Lee Myeong-Jin;Kwak Ki-Young;Hwang Chan-Ho;Shin Dong-Hoon;Kwak Jong-Young;Lee Yong-Hwan;Kim Jong-Min;Kim Joon-Youn
    • Journal of Life Science
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    • v.14 no.6 s.67
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    • pp.913-919
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    • 2004
  • Mitochondrial DNA mutations have been reported in recent years in association with sensorineural hering loss. The purpose of this study is to identify the association between the noise-induced sensorineural hearing loss and the A to G mutation at nucleotide 3243, 1555, 7445 of mitochondrial DNA. Study subjects were established by history and chart review, and audiological and clinical data were obtained. Blood was sampled from 214 normal controls, 102 noise-induced hearing loss, and 28 sensorineural hearing loss. The DNA of these individuals were extracted, and mitochondrial DNA fragments were analyzed by polymerase chain reaction. Subsequently, the coding sequence of mitochondrial DNA 3243, 1555, 7445 were sequenced, and compared to the normal sequence, and all sequence variations were analyzed by restriction enzymes. Mitochondrial DNA mutations (3243AG,1555A4G,7445AG) were not detected by polymerase chain reactions in any patients with noise-induced hearing loss, sensorineural hearing loss, and normal controls. The DNA sequencing of PCR products did not revealed an A to G substitution at nucleotide 3243, 1555, 7445 of mitochondrial DNA. The noise-induced sensorineural hearing loss was not associated with mitochondrial DNA mutation (3243AG,1555A4G,7445AG).

Effects of Polymorphisms in the 3' Untranslated Region of the Porcine Mitochondrial calcium uptake 1 (MICU1) Gene on Meat Quality Traits (돼지 mitochondrial calcium uptake 1 (MICU1) 유전자의 3'UTR 내 SNP가 육질에 미치는 영향)

  • Jee, Yae-Sol;Cho, Eun-Seok;Jeon, Hyeon-Jeong;Lee, Si-Woo;Lim, Kyu-Sang;Kim, Tae-Hun;Lee, Kyung-Tai
    • Journal of Life Science
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    • v.26 no.11
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    • pp.1232-1236
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    • 2016
  • Mitochondrial calcium uptake 1 (MICU1) including two canonical EF hands, located in the mitochondrial inner membrane, is known to play a crucial role in the calcium uptake in mitochondria. Mitochondrial calcium uptake in muscular cells is related to post mortem shortening by calcium release from muscles. Therefore, the porcine MICU1 gene has been estimated as a genetic candidate for meat quality traits. In this study, variations on the exonic regions of the porcine MICU1 gene were investigated by sequencing cDNAs and tested for their association with meat quality traits. A total of 667 Berkshire heads (347 sows and 320 castrated boars) were used for this association test. Three SNPs were detected on the 3' untranslated region (UTR) of the porcine MICU1 gene. SNP1 (c.*136G>A) was associated with drip loss (p=0.017) and intramuscular fat content (p=0.039). In addition, SNP2 (c.*222G>A) and SNP3 (c.*485G>A) were associated with drip loss (p=0.018) and intramuscular fat content (p<0.001), respectively. In conclusion, it was verified that three variations on the 3' UTR of the porcine MICU1 gene were significantly associated with meat quality traits. It was also suggested that molecular biological analyses are needed to validate the function of variations on the 3 UTR of the porcine MICU1 gene.

Association and Polymorphism of Porcine Candidate Genes with Breeding Values in Litter Size of Large Yorkshire and Landrace Inbred Lines (대요크샤 및 랜드레이스종 근교계통돈의 총산자수와 후보유전자에 대한 다형성과 육종가 간의 연관성 분석)

  • Kim, Myung-Jick;Cho, Kyu-Ho;Kim, Doo-Wan;So, Kyung-Min;Choi, Bong-Hwan;Kim, In-Cheul
    • Reproductive and Developmental Biology
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    • v.35 no.3
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    • pp.247-250
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    • 2011
  • The objective of this study was to find out candidate genes associated with litter size trait in pigs of inbred Large Yorkshire and Landrace populations. 86 sows were screened for candidate genotypes along with litter size data recordings. Association of litter size with genotypes of candidate genes were investigated to verify the usefulness of each gene's genotypes as markers for the trait. For the lines of Large Yorkshire, PRLR3 and RBP4 genes were genotyped. Frequency distribution of PRLR3 with genotypes AA, AB and BB were each 0.14, 0.44 and 0.42. And the average litter size by PRLR3 genotypes were 8.83, 10.81 and 10.70 piglets per litter, the average estimated breeding values of which were 0.243, 0.332, 0.365, respectively for AA, AB and BB genotypes. Genotypic frequencies of RBP4 by AA, AB and BB genotypes were 0.10, 0.44 and 0.46. The average litter size by genotypes of RBP4 were 10.40, 10.57 and 10.35 piglets per litter and their corresponding average estimated breeding values were 0.451, 0.353 and 0.261, respectively for genotypes AA, AB and BB. Significance in differences among genotypes were not observed, but B allele of RBP4 seems to be associated with litter size. In Landrace lines, frequencies of RBP4 genotypes, AA, AB and BB were 0.29, 0.55 and 0.16. And the average litter size of these genotypes were 10.50, 11.08 and 11.00 piglets per litter. The corresponding averages of estimated breeding values of each genotypes were 0.172, 0.135 and 0.104. In Landrace lines, allele A was more likely to be associated with litter size, even if differences among average litter size were not significant. We conclude that genotyping of two candidate genes is a helpful tool to identify genetic potentials of litter size in pigs.

Analysis of Genetics Problem-Solving Processes of High School Students with Different Learning Approaches (학습접근방식에 따른 고등학생들의 유전 문제 해결 과정 분석)

  • Lee, Shinyoung;Byun, Taejin
    • Journal of The Korean Association For Science Education
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    • v.40 no.4
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    • pp.385-398
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    • 2020
  • This study aims to examine genetics problem-solving processes of high school students with different learning approaches. Two second graders in high school participated in a task that required solving the complicated pedigree problem. The participants had similar academic achievements in life science but one had a deep learning approach while the other had a surface learning approach. In order to analyze in depth the students' problem-solving processes, each student's problem-solving process was video-recorded, and each student conducted a think-aloud interview after solving the problem. Although students showed similar errors at the first trial in solving the problem, they showed different problem-solving process at the last trial. Student A who had a deep learning approach voluntarily solved the problem three times and demonstrated correct conceptual framing to the three constraints using rule-based reasoning in the last trial. Student A monitored the consistency between the data and her own pedigree, and reflected the problem-solving process in the check phase of the last trial in solving the problem. Student A's problem-solving process in the third trial resembled a successful problem-solving algorithm. However, student B who had a surface learning approach, involuntarily repeated solving the problem twice, and focused and used only part of the data due to her goal-oriented attitude to solve the problem in seeking for answers. Student B showed incorrect conceptual framing by memory-bank or arbitrary reasoning, and maintained her incorrect conceptual framing to the constraints in two problem-solving processes. These findings can help in understanding the problem-solving processes of students who have different learning approaches, allowing teachers to better support students with difficulties in accessing genetics problems.

Analysis of HLA in Patients with Obstructive Sleep Apnea Syndrome (폐쇄성 수면무호흡증후군 환자에서 사람백혈구항원 분석)

  • Lee, Sang Haak;Kim, Chi Hong;Ahn, Joong Hyun;Kang, Ji Ho;Kim, Kwan Hyoung;Song, Jeong Sup;Park, Sung Hak;Moon, Hwa Sik;Choi, Hee Baeg;Kim, Tai Gyu;Choi, Young Mee
    • Tuberculosis and Respiratory Diseases
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    • v.59 no.3
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    • pp.298-305
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    • 2005
  • Background : Obstructive sleep apnea syndrome (OSAS) is believed to have multifactorial causes. The major risk factors for OSAS are obesity, narrowed upper airways, and abnormal cranial-facial structures. A genetic basis for OSAS has been also suggested by reports of families with many members affected. This study analyzed the HLA typing in patients with OSAS to determine the possible role of genetics in OSAS. Methods : Twenty-five Korean patients with OSAS (1 woman and 24 men; age range 30-66 years) were enrolled in this study. A diagnosis of OSAS was made using full-night polysomnography. The control group consisted of 200 healthy Korean people. Serologic typing of the HLA-A and B alleles was performed in all patients using a standard lymphocyte microcytotoxicity test. Analysis of the polymorphic second exons of the HLA-DRB1 gene was performed using a polymerase chain reaction-sequence specific oligonucleotide probe. Results : The allele frequency of HLA-A11 was significantly lower in patients with OSAS compared with the controls (p<0.05). The HLA-B allele frequencies in the patients and controls had a similar distribution. Analysis of the HLADRB1 gene polymorphisms showed an increased frequency of DRB1*09 in the OSA patients compared with the controls (p<0.05). When the analysis was performed after dividing the OSAS patients according to the severity of apnea, the allele frequency of HLA-DRB1*08 was significantly higher in the severe OSA patients (apnea index >45) than in the controls (p<0.05). Conclusion : This study revealed an association between OSAS and the HLA-A11 and DRB1*09 alleles as well as association between the disease severity and the HLA-DRB1*08 allele in Korean patients. These results suggest that genetics plays an important role in both the development and the disease severity of OSAS.

Mesozoic Granitoids and Associated Gold-Silver Mineralization in Korea (한국 중생대 화강암류와 이에 수반된 금-은광화작용)

  • 최선규;박상준;최상훈;신홍자
    • Economic and Environmental Geology
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    • v.34 no.1
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    • pp.25-38
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    • 2001
  • Contrasts in the style of the gold-silver mineralization in geologic and tectonic settings in Korea, together with radiometric age data, reflect the genetically different nature of hydrothermal activities, coinciding with the emplacement age and depth of Mesozoic magmatic activities. It represents a clear distinction between the plutonic settings of the Jurassic Daebo orogeny and the subvolcanic environments of the Cretaceous Bulgugsa igneous activities. During the Daebo igneous activities (about 200-130 Ma) coincident with orogenic time, gold mineralization took place between 197 and 127 Ma. The Jurassic deposits commonly show several characteristics: prominent association with pegmatites, low Ag/Au ratios in the ore-concentrating parts, massive vein morphology and a distinctively simple mineralogy including Fe-rich sphalerite, galena, chalcopyrite, Au-rich eIectrum. pyrrhotite and/or pyrite. During the Bulgugsa igneous activities (120-60 Ma), the precious-metal deposits are generally characterized by such features as complex vein morphology, medium to high AgiAu ratios in the ore concentrates, and abundance of ore minerals including base-metal sulfides, Ag sulfides, native silver, Ag sulfosalts and Ag tellurides. Vein morphology, mineralogical, fluid inclusion and stable isotope results indicate the diverse genetic natures of hydrothermal systems. The Jurassic Au-dominant deposits were formed at the relatively high temperature (about 300 to 450C) and deep-crustal level (>3.0 kb) from the hydrothermal fluids containing more amounts of magmatic waters (3180; 5-10 %0). It can be explained by the dominant ore-depositing mechanisms as CO2 boiling and sulfidation, suggestive of hypo/mesothermal environments. In contrast, mineralization of the Cretaceous Au-Ag type (108-71 Ma) and Agdominant type (98-71 Ma) occurred at relatively low temperature (about 200 to 350C) and shallow-crustal level «1.0 kb) from the ore-fonning fluids containing more amounts of less-evolved meteoric waters (15180; -10-5%0). These characteristics of the Cretaceous precious-metal deposits can be attributed to the complexities in the ore-precipitating mechanisms (mixing, boiling, cooling), suggestive of epilmesothermal environments. Therefore, the differences of the emplacement depth between the Daebo and the Bulgugsa igneous activities directly influence the unique temporal and spatial association of the deposit type.

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A Search of the Community between Eight Constitution Medicine and Disease Ecology: A Perspective from Medical Geography (8체질의학과 질병생태학의 공통성에 관한 연구: 의료지리학적 접근을 중심으로)

  • Kim, Changkeun;Ryu, Je-Hun;Kim, Younghoon;Park, Sookyung;Jang, YoungHun;Han, JungHoon
    • Journal of the Korean Geographical Society
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    • v.49 no.6
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    • pp.897-916
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    • 2014
  • There is a considerable community between Eight Constitution Medicine and disease ecology in that they examine the relationship between humans and environment in terms of genetic, environmental and cultural factors, in addition to the factor of germs. In this respect, the purpose of this research aims to investigate the community between Eight Constitution Medicine, a branch of Eastern Medicine and disease ecology in geography. The research method is to analyse the clinical results from 647 patients and the data from a field survey on the Yeonggwang-gun County, Jeollanam-do Province. The results are summarized as the following: First, geographical distribution of patients varies depending on the type of physical constitution; it is also divided into two types, an oceanic type and an inland type. Second, it is highly probable that there is a significant relation between a vulnerable disease in association with a type of physical constitution and patient's native place; there are diseases that are not associated with all the patients who have the same constitution; they might be incurred by the eating or life habits in association with the characteristics of geographical environment. Third, the case study of Yeonggwang-gun County, Jeollanam-do Province, with a focus on the mutual relationship among the three factors. shows that patients, who share in common the eating or life habits that coincide with their own personal types of constitution, maintain a good health condition; if not, they tend to be exposed to a various kinds of disease. Because the study on the community between Eight Constitution Medicine and disease ecology is now at the early stage, diverse types of approaches should be tried to be applied in the future.

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