• 한국응용곤충학회지
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• 제58권2호
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• pp.133-142
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• 2019

본 연구는 국내 금지급 과실파리인 오리엔탈과실파리(Bactrocera dorsalis)에 대한 유전적 변이를 분석하였다. 이를 위해 오리엔탈과실파리가 자생하는 대만 지역을 대상으로 2019년 동일한 시기(3일간: 7월 30일~8월 1일)에 서로 다른 세 지역(타이페이, 타이중, 카오슝)에서 과실파리류를 채집하여 나이 변이 및 미토콘드리아 서열 변이를 각각 비교하였다. 세 지역에서 채집된 오리엔탈과실파리는 1,085마리로서 메틸유제놀 유인제에 모두 유인되었으며, 큐루어 유인제에는 30마리의 오이과실파리(Zeugodacus cucurbitae) 및 1마리의 타우과실파리(Bactrocera tau)만 채집되었다. 단백질먹이 유인제에는 총 6마리가 포획되었으며 이 가운데 오리엔탈과실파리는 1마리가 포함되었으며 나머지는 오이과실파리였다. 오리엔탈과실파리 수컷의 머리에는 테린이 포함되었으며 나이가 증가함에 따라 각 머리에는 $32{\mu}g$에서 $59{\mu}g$까지 테린 함량이 증가하였다. 대만 세 지역의 수컷 집단들은 테린 양에 차이를 나타냈으며, 카오슝 집단이 타이페이와 타이중 집단에 비해 적은 테린 양을 보유하였다. 이들 세 지역 사이에 유전적 거리가 RAPD (random amplified polymorphic DNA)를 이용하여 분석되었으며 타이페이 집단이 타이중 및 카오슝 집단들과 차이를 나타내는 것으로 나타났다. 유전적 변이는 미토콘드리아의 cytochrome oxidase I (CO-I)과 NADH dehydrogenase I (ND-I)을 각각 비교하였다. CO-I 영역 가운데 360개 염기서열을 비교한 결과 7.8%의 염기서열 변이를 나타냈다. ND-I 영역을 비교한 결과 213개 염기서열 가운데 6.6%의 염기서열 변이를 보였다. 이들 변이 서열을 대만 지역에 발생하는 오리엔탈과실파리의 특이적 SNP (single nucleotide polymorphism) 마커로 개발하는 데 추천한다.

• 생명과학회지
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• 제28권7호
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• pp.795-801
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• 2018

본 연구는 제주마 체중 형질과 말의 3번 및 9번 염색체 단일염기변이마커간의 관련성을 분석하기 위해 수행되었다. 본 연구에 사용된 DNA 샘플은 제주특별자치도 축산진흥원에서 등록관리 중인 제주마 320두를 제공받았고, 생체중 자료는 한국마사회에서 시행한 경마에 출주한 제주마의 체중자료를 이용하였다. 기존에 말의 체형관련형질과의관련성이 보고된 바 있는 말의 3번 염색체상에 위치한 BIEC2-808466, BIEC2-808543, BIEC2-808967, BIEC2-809370 단일염기변이마커와 9번 염색체상에 위치한 BIEC2-1105370, BIEC2-1105372, BIEC2-1105377, BIEC2-1105505 and BIEC2-1105840 유전자형을 분석하였다. 관련성 분석을 위한 종속변수는 선형혼합모형을 이용해서 추정한 생체중 육종가를 이용하였다. 관련성 분석결과 6개의 마커(BIEC2-808543, BIEC2-808967, BIEC2-809370, BIEC2-1105370, BIEC2-1105372, and BIEC2-1105377)와 생체중 추정육종가간의 유의성이 인정되었다. 또한, BIEC2-808967과 BIEC2-1105377의 유전자형조합을 구성하여 생체중 추정육종가에 대한 효과를 분석한 결과, 두 마커의 유전자 조합은 생체중 변이에 유의한 효과가 있었다. 본 연구에서 유의성이 인정된 단일염기변이마커들은 제주마의 체중 개량을 위한 선발육종체계의 효율성을 높일 수 있는데 사용될 수 있을 것으로 사료되지만, 이 들 마커효과의 좀더 정확한 추정을 위한 추가의 연구가 필요할 것으로 생각된다.

• Journal of Animal Science and Technology
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• 제53권1호
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• pp.1-6
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• 2011

연구는 유전체분석에 대해 모의실험한 연구로써 Reference Population (RP)이 구성되었을 때, 표현형 자료가 없고 유전체자료만 있는 Juven 1 또는 Juven 2 세대에 대해 유전평가의 정확도에 대해 알아보고자 연구를 실시하였다. 모의실험의 가정으로 염색체는 1개이며 염색체길이는 100cM로 가정하였다. 초기의 유효집단의 수는 100두의 다형성이 없는 초기집단에서 유전자 효과가 없는 표지인자(Marker)를 0.1cM 및 0.5cM 간격으로 균등하게 단일 염기 돌연변이에 의한 다형성을 발생시켰고 유전자 효과가 있는 QTL 좌위는 Marker와 동수의 비율로 임의위치를 지정하여 돌연변이에 의한 변이성을 생성하였으며 이때 유전자 효과는 Gamma 분포함수(scale=1.66, shape=0.4)에서 생성하였다. 배우자(gamete) 형성과정에서 Haldane의 가정하에 유전자 재조합을 생성하였으며 돌연변이 발생율은 Marker 및 QTL 좌위에서 $2.5{\times}10^{-3}$ 및 $2.5{\times}10^{-5}$의 확률로 발생시켜 1000세대까지 세대번식을 유지하였다. 이 후 1001세대부터 1004세대까지 세대당 2000두의 자손을 생성하였으며 이 때 유전력을 0.1 및 0.5의 가정하에 1001~1002 세대에서 표현형 자료를 생성하였고, 1003~1004세대는 오직 유전체자료만 생성하였다. Bayesian 방법을 이용하여 개체별 육종가를 추정하였으며 표지인자간 거리(0.1cM, 0.5cM), 유전력(0.1, 0.5) 및 반형매 집단크기(20두, 4두)에 따라 참육종가와 추정 육종가간의 상관으로 표현되는 육종가 정확도에 대해 비교한 결과 1003세 대에서 표지인자간 거리가 0.1cM 및 0.5cM일 때 육종가의 정확도는 각각 0.87, 0.81였고, 유전력이 0.1 및 0.5 일 때 각각 0.87, 0.94로 추정되었으며, 반형매 집단의 크기가 20두 일 때 0.87, 4두 일 때 0.84로 추정되었다. 위의 결과로 미루어 보아 다량의 SNP 표지정보 및 반형매 집단의 크기가 클수록 즉, 혈연계수가 높은 집단일 때 육종가의 정확도는 높게 나타났다. 유전체선발의 활용시 비교적 높은 정확도로써 조기선발이 가능하며 이로 인한 세대간격을 단축시킬 수 있어 개량의 효율을 높일 수 있을 것으로 사료된다. 반면에 유전체선발은 분석비용이 비싸며, 지속적인 유전체 선발시 특정유전자 선호로 인한 유전적 부동(Genetic Drift) 현상이 발생될 수 있기 때문에 지속적인 SNP 발굴에 대한 노력이 필요한(Meuwissen 2003) 단점이 있으나 한우 또는 젖소와 같은 대가축과 같이 세대간격이 긴 가축에서 유전체선발 할 경우 조기선발로 인한 세대간격 단축과 유전평가의 높은 정확도(0.8이상)로 인해 개량의 효율을 극대화 할 수 있을 것으로 사료된다.

• Genomics & Informatics
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• 제16권2호
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• pp.36-41
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• 2018

Kawasaki disease (KD) is an acute febrile vasculitis predominately affecting infants and children. The dominant incidence age of KD is from 6 months to 5 years of age, and the incidence is unusual in those younger than 6 months and older than 5 years of age. We tried to identify genetic variants specifically associated with KD in patients younger than 6 months or older than 5 years of age. We performed an age-stratified genome-wide association study using the Illumina HumanOmni1-Quad BeadChip data (296 cases vs. 1,000 controls) and a replication study (1,360 cases vs. 3,553 controls) in the Korean population. Among 26 candidate single nucleotide polymorphisms (SNPs) tested in replication study, only a rare nonsynonymous SNP (rs4365796: c.1106C>T, p.Thr369Met) in the lymphoid enhancer binding factor 1 (LEF1) gene was very significantly associated with KD in patients younger than 6 months of age (odds ratio [OR], 3.07; $p_{combined}=1.10{\times}10^{-5}$), whereas no association of the same SNP was observed in any other age group of KD patients. The same SNP (rs4365796) in the LEF1 gene showed the same direction of risk effect in Japanese KD patients younger than 6 months of age, although the effect was not statistically significant (OR, 1.42; p = 0.397). This result indicates that the LEF1 gene may play an important role as a susceptibility gene specifically affecting KD patients younger than 6 months of age.

• 생물정신의학
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• 제19권3호
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• pp.128-133
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• 2012

Objectives : Located on chromosome 10q22-q23, the human neuregulin 3 (NRG3) is suggested as a strong positional and functional candidate gene involved in the pathogenesis of schizophrenia. Several case-control studies examining the association between polymorphisms on NRG3 gene with schizophrenia and/or its traits (such as delusion) have been reported recently in cohorts of Han Chinese, Ashkenazi Jews, Australians, white Americans of Western European ancestry and Koreans. Thus, this study aimed to investigate the association of one SNP in exon 9 (rs2295933) of NRG3 gene with the risk of schizophrenia in a Korean population. Methods : Using TaqMan assay, rs2295933 in the exon 9 of NRG3 was genotyped in 435 patients with schizophrenia as cases and 393 unrelated healthy individuals as controls. Differences in frequency distributions were analyzed using logistic regression models following various modes of genetic inheritance and controlling for age and sex as covariates. Results : Subsequent analysis revealed that the frequency distribution of rs2295933 of NRG3 was not different between schizophrenia patients and healthy controls of Korean ethnicity. Conclusions : This study does not support the role of NRG3 in schizophrenia in a Korean population.

• Asian-Australasian Journal of Animal Sciences
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• 제20권9호
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• pp.1319-1326
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• 2007

Fructose-1,6-bisphosphatase (FBP1) is a key regulatory enzyme of gluconeogenesis that catalyzes the hydrolysis of fructose-1,6-bisphosphate to generate fructose-6-phosphate and inorganic phosphate. Deficiency of fructose-1, 6-bisphosphatase is associated with fasting hypoglycemia and metabolic acidosis. The enzyme has been shown to occur in bacteria, fungi, plants and animals. The bovine FBP1 gene was cloned and characterized in this study. The full length (1,241 bp) FBP1 mRNA contained an open reading frame (ORF) encoding a protein of 338 amino acids, a 63 bp 5' untranslated region (UTR) and a 131 bp 3' UTR. The bovine FBP1 gene was 89%, 85%, 82%, 82% and 74% identical to the orthologs of pig, human, mouse, rat and zebra fish at mRNA level, and 97%, 96%, 94%, 93% and 91% identical at the protein level, respectively. This gene was broadly expressed in cattle with the highest level in testis, and the lowest level in heart. An intronic single nucleotide polymorphism (SNP) (A/G) was identified in the $5^{th}$ intron of the bovine FBP1 gene. Genotyping of 133 animals from four beef breeds revealed that the average frequency for allele A (A-base) was 0.7897 (0.7069-0.9107), while 0.2103 (0.0893-0.2931) for allele B (G-base). Our preliminary association study indicated that this SNP is significantly associated with traits of Average Daily Feed Intake (ADFI) and Carcass Length (CL) (p<0.01). In addition, the FBP1 gene was assigned on BTA8 by a hybrid radiation (RH) mapping method.

• Asian-Australasian Journal of Animal Sciences
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• 제22권6호
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• pp.765-773
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• 2009

Sterol regulatory element binding factor 1 (SREBF1) and fatty acid synthase (FASN) genes play an important role in the biosynthesis of fatty acids and cholesterol, and in lipid metabolism. This study used polymorphisms in the intron 5 of bovine SREBF1 and in the thioesterase (TE) domain of FASN genes to evaluate their associations with beef fatty acid composition. A previously identified 84-bp indel (L: insertion/long type and S: deletion/short type) of the SREBF1 gene in Korean cattle had significant associations with the concentration of stearic (C18:0), linoleic (C18:2) and polyunsaturated fatty acids (PUFA). The stearic acid concentration was 6.30% lower in the SS than the LL genotype (p<0.05), but the linoleic and PUFA contents were 11.06% and 12.20% higher in SS compared to LL (p<0.05). Based on the sequence analysis, five single nucleotide polymorphisms (SNPs) g.17924G>A, g.18043C>T, g.18440G>A, g.18529G>A and g.18663C>T in the TE domain of the FASN gene were identified among the different cattle breeds studied. Among these, only g.17924 G>A and g.18663C>T SNPs were segregating in the Hanwoo population. The g.17924G>A SNP is a non-synonymous mutation (thr2264ala) and was significantly associated with the contents of palmitic (C16:0) and oleic acid (C18:1). The oleic acid concentration was 3.18% and 2.79% higher in Hanwoo with the GG genotype than the AA and AG genotypes, respectively (p<0.05), whereas the GG genotype had 3.8% and 4.01% lower palmitic acid than in those cattle with genotype AA and AG, respectively (p<0.05). Tissue expression data showed that SREBFI and FASN genes were expressed in a variety of tissues though they were expressed preferentially in different muscle tissues. In conclusion, the 84-bp indel of SREBF1 and g.17924G>A SNP of the FASN gene can be used as DNA markers to select Hanwoo breeding stock for fatty acid composition.

• Asian-Australasian Journal of Animal Sciences
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• 제33권5호
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• pp.770-777
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• 2020

Objective: This study was conducted to determine early hereditary endowment to establish a short-term feeding program. Methods: Hanwoo steers (n = 140) were equally distributed into four groups (35/group) based on genetic meat yield index (MYI) viz. the greatest, great, low, and the lowest at Jukam Hanwoo farm, Goheung. All animals were fed in group pens (5 animals/pen) with similar feed depending on the growth stage. Rice straw was provided ad libitum, whereas concentrate was fed at 5.71 kg during the growing period (6 to 13 mo) and 9.4 kg during the fattening period (13 to 28 mo). Body weight (BW) was measured at two-month intervals, whereas carcass weight was determined at slaughtering at about 31 months of age. The Affymetrix Bovine Axiom Array 640K single nucleotide polymorphism (SNP) chip was used to determine the meat quantity-related gene in the blood. Results: After 6 months, the highest (p<0.05) BW was observed in the greatest MYI group (190.77 kg) and the lowest (p<0.05) in the lowest MYI group (173.51 kg). The great MYI group also showed significantly (p<0.05) higher BW than the lowest MYI group. After 16 and 24 months, the greatest MYI group had the highest BW gain (p<0.05) and were therefore slaughtered the earliest. Carcass weight was significantly (p<0.05) higher in the greatest and the great MYI groups followed by the low and the lowest MYI groups. Back-fat thickness in the greatest MYI group was highly correlated to carcass weight and marbling score. The SNP array analysis identified the carcass-weight related gene BTB-01280026 with an additive effect. The steers with the allele increasing carcass weight had heavier slaughter weight of about 12 kg. Conclusion: Genetic MYI is a potential tool for calf selection, which will reduce the slaughter age while simultaneously increasing carcass weight, back-fat thickness, and marbling score.

• Asian Pacific Journal of Cancer Prevention
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• 제17권8호
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• pp.4107-4111
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• 2016

Background: Oral cancers account for approximately 2% of all cancers diagnosed each year; however, the vast majority (80%) of the affected individuals are smokers whose risk of developing a lesion is five to nine times greater than that of non-smokers. Tobacco smoke contains numerous carcinogens that cause DNA damage, including oxidative lesions that are removed effectively by the base-excision repair (BER) pathway, in which poly (ADP-ribose) polymerase 1 (PARP-1), plays key roles. Genetic variations in the genes encoding DNA repair enzymes may alter their functions. Several studies reported mixed effects on the association between PARP-1 variants and the risk of cancer development. Till now no reported studies have investigated the association between PARP-1 variants and oral squamous cell carcinoma (OSCC) risk in an Indian population. Materials and Methods: In the present case control study 100 OSCC patients and 100 matched controls were genotyped using PARP1 single nucleotide peptides (SNP's) rs1136410 and rs3219090 using TaqMan assays. Results: The results indicated significantly higher risk with PARP1 rs1136410 minor allele "C" (OR=1.909; p=0.02942; CI, 1.060-3.439). SNP rs1136410 also showed significantly increased risk in patients with smoking habit at C/C genotype and at minor allele C. Conclusions: The PAPR-1 Ala762Val polymorphism may play a role in progression of OSCC. Larger studies with a greater number of samples are needed to verify these findings.

• BMB Reports
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• 제43권6호
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• pp.445-449
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• 2010

Aspirin-intolerant asthma (AIA) is characterized by severe asthmatic attack after ingestion of aspirin and/or non-steroidal anti-inflammatory drugs. In this study, we investigated the relationship between Prostaglandin E2 receptor (PTGER) gene family polymorphisms and AIA in 243 AIA patients and 919 aspirin-tolerant asthma (ATA) controls of Korean ethnicity in two separate study cohorts. After genotyping 120 SNPs of the PTGER gene family for the $1^{st}$ cohort study, four SNPs in PTGER1, ten in PTGER3, six in PTGER3, and a haplotype of PTGER2 showed association signals with decreased or increased risk of AIA. Among the positively associated SNPs, one in PTGER1 and four in PTGER3 were analyzed in the $2^{nd}$ cohort study. The results show that rs7543182 and rs959 in PTGER3 retained their effect, although no statistical significance was retained in the $2^{nd}$ cohort study. Our findings provide further evidence that polymorphisms in PTGER3 might play a significant role in aspirin hypersensitivity among Korean asthmatics.