• Environmental Analysis Health and Toxicology
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• 제20권1호
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• pp.39-45
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• 2005

Renin-angiotensin system (RAS)은 혈압 조절에 중요한 역할을 수행하는 생리적 조절계로써, 이 system 을 구성하는 유전자들의 이상은 본태성 고혈압의 발병과 유의하게 관련된 것으로 알려졌다. RAS의 주요한 구성 성분인 angiotensin II는 2종류의 수용체인 angiotensin II type I receptor(AT₁R)와 angiotensin II type I receptor(AT₂R)에 의해 그 효과가 매개되기 때문에, 이 수용체를 암호하는 유전자는 본태성 고혈압의 유력한 후보 유전자라고 볼 수 있다. 현재가지의 연구에 의하면, AT₁R 유전자에 존재하는 유전적 변이와 본태성 고혈압과의 관련성에 관해서는 많은 보고들이 있었지만, AT₂R 유전자에 존재하는 유전적 변이 가 본태성 고혈압에 유의한 효과를 나타내는 지에 관해서는 이렇다할 연구 성과가 별로 없는 실정이다. 이에 본 연구에서는 한국인 집단을 대상으로 하여, AT₂R 유전자에 존재하는 C3123A 다형성이 한국인 집단에서 본태성 고혈압과 유의한 관련성이 있는 지를 분석하였다. 이 유전자는 인간의 X 염색체에 존재하기 때문에, 여성인 경우에는 CC, CA및 AA로 이루어진 3유전자형이 존재하지만, 남성인 경우에는 C와 A로 이루어진 2종류의 대립 유전자로 구성되어 있기 때문에, 본 연구에서는 남성과 여성을 개별적으로 나누어서 분석하였다. 연구 결과, AT₂R 유전자에 존재하는 C3123A 다형성은 남녀 모두에서 본태성 고혈압과 유의한 관련성을 나타내지 않았다(P>0.05). 그렇지만, 이 다형성에 대한 대립 유전자 빈도를 서양인 집단과 비교했을 경우에는, 한국인을 대상으로 한 본 연구에서 A 대립 유전자 빈도가 0.33인 반면에 서양인 집단은 그 빈도가 0.43～0.48로 한국인 집단보다 높은 값을 나타내었다. 따라서, AT₂R 유전자에 존재하는 C3123A 다형성과 본태성 고혈압과의 관련성에 대해서는 한국인과 유전적 배경이 다른 서양인 집단을 대상으로 한 추시가 필요할 것으로 사료된다.

• 정보처리학회논문지:소프트웨어 및 데이터공학
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• 제2권10호
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• pp.697-704
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• 2013

인간의 한쪽 염색체상에 나타나는 SNP의 서열인 일배체형을 식별해내면 효과적인 유전질병 연관검사를 할 수 있다. 주어진 SNP 단편들로부터 계산적인 방법으로 한 쌍의 일배체형을 조합하기 위해 제시된 모델 중 하나인 최소오류수정 모델은 단편에 손실이 없는 경우조차 NP-hard임이 증명되었다. 기존의 분기한정 알고리즘은 많은 계산시간을 요구함에 따라 실제 응용에 사용하기 어려웠다. 그러나 최근에 개선된 분기한정 알고리즘이 제시되었고, 꿀벌(Apis mellifera)의 유전자형 데이터를 대상으로 성능을 분석해봄으로써 개선된 알고리즘이 기존 분기한정 알고리즘보다 효율적임을 보였다. 본 논문에서는 인간의 유전자형 데이터를 대상으로 개선된 분기한정 알고리즘을 적용해 일배체형 조합문제를 수행한다. 실험을 통한 성능분석 결과, 개선된 분기한정 알고리즘이 인간 유전체에 대해서도 성공적으로 적용됨을 확인함으로써 다양한 생명체의 일배체형 조합문제에 적용 가능함을 보인다.

• Parasites, Hosts and Diseases
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• 제59권5호
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• pp.447-455
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• 2021

Vivax malaria incidence in Korea is now decreased and showing a low plateau. Nowadays, vivax malaria in Korea is expected to be successfully eliminated with anti-malaria chemotherapy, primaquine, and vector control. The glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with potential hemolytic anemia after primaquine administration. This inborn disorder has a pivotal polymorphism with genetic variants and is the most prevalent X-chromosome-linked disorder. The prevalence of G6PD deficiency was previously reported negligible in Korea. As the population of multicultural families pertaining marriage immigrants and their adolescents increases, it is necessary to check G6PD deficiency for them prior to primaquine treatment for vivax malaria. The prevalence of G6PD variants and G6PD deficiency in multicultural families was performed in 7 counties and 2 cities of Jeollanam-do (Province), Gyeonggi-do, and Gangwon-do. A total of 733 blood samples of multicultural family participants were subjected to test the phenotypic and genetic G6PD deficiency status using G6PD enzyme activity quantitation kit and PCR-based G6PD genotyping kit. The G6PD phenotypic deficiency was observed in 7.8% of male adolescent participants and 3.2% of materfamilias population. Based on the PCR-based genotyping, we observed total 35 participants carrying the mutated alleles. It is proposed that primaquine prescription should seriously be considered prior to malaria treatment.

• Plant Breeding and Biotechnology
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• 제6권4호
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• pp.413-425
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• 2018

A previous work developed and identified a new omega-5 gliadin deficient wheat line named O-free by crossing Keumkang and Olgeuru, which is nutritionally quite meaningful in that omega-5 gliadin is one of the known wheat allergens. To verify the characteristics of the O-free, we performed RNA sequencing (RNAseq) analysis of the O-free and the two parent lines (Keumkang and Olgeuru). The results of the similarity analysis with the ESTs for gliadins and glutenins showed that the O-free ESTs had no similarity with the omega-5 gliadin sequences but had similarity to other gliadins and glutenins. Furthermore, mapping results between the raw RNAseq data from the O-free and the omega-5 gliadin sequence showed a clear deletion of the N-terminal sequences which are an important signature of omega-5 gliadin. We also designed specific PCR primers that could identify omega-5 gliadin in the genomic DNA. The results showed that no omega-5 gliadin fragments were detected in the O-free. According to these results, we confirmed that the deficiency of omega-5 gliadin in the O-free is not caused by post-transcriptional or post-translational regulations such as epigenetic phenomena but by a simple deletion in the chromosome. Furthermore, we showed that the low-molecular weight glutenin subunit (LMW-GS) gene in the O-free had a single nucleotide polymorphism (SNP) causing a premature stop codon, resulting in a truncated polypeptide. We expect that the O-free line may serve as an excellent source of wheat that could prevail in the hypo-allergen wheat market, which has recently gained interest world-wide.

• The Plant Pathology Journal
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• 제37권2호
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• pp.194-199
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• 2021

Blackleg is a serious disease in Brassica plants, causing moderate to severe yield losses in rapeseed worldwide. Although China has not suffered from this disease yet (more aggressive Leptosphaeria maculans is not present yet), it is crucial to take provisions in breeding for disease resistance to have excellent blackleg-resistant cultivars already in the fields or in the breeding pipeline. The most efficient strategy for controlling this disease is breeding plants with identified resistance genes. We selected 135 rapeseed accessions in Sichuan, including 30 parental materials and 105 hybrids, and we determined their glucosinolate and erucic acid content and confirmed 17 double-low materials. A recently developed single-nucleotide polymorphism (SNP) marker, SNP_208, was used to genotype allelic Rlm1/rlm1 on chromosome A07, and 87 AvrLm1-resistant materials. Combined with the above-mentioned seed quality data, we identified 11 AvrLm1-resistant double-low rapeseed accessions, including nine parental materials and two hybrids. This study lays the foundation of specific R gene-oriented breeding, in the case that the aggressive Leptosphaeria maculans invades and establishes in China in the future and a robust and less labor consuming method to identify resistance in canola germplasm.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.192-192
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• 2022

Sweetpotato is rich in starch, which is converted to sugar during storage due to enzymatic hydrolysis. The sugar content of sweetpotato is a component related to taste and storability. In this study, the sugar content (fructose, glucose, maltose, sucrose and total sugar content) of 94 genotypes was evaluated and the GWAS (Genome-Wide Association Study) was conducted to search for candidate genes for sugar content. The fructose and glucose content were 0.2 ~ 8.8 and 0.2 ~ 9.4 g/100g, respectively. The maltose, sucrose and total sugar content were 0.2 ~ 9.1,3.2 - 30.0 and 7.9 ~ 40.2 g/100g, respectively. The fructose and glucose showed a positive correlation (0.98). The 94 genotypes were genotyped with genotyping-by-sequencing (GBS) and aligned against the reference genome sequences of sweetpotato. The GBS libraries from 94 genotypes were sequenced on an Illumina HiSeqXten system, and 1,339,892 SNPs (Single Nucleotide Polymorphism) were generated. Filtering for < 60% missing rate and > 0.05 minor allele frequency resulted in a total of 44,255 SNPs used in GWAS. The GAPIT (Genome Association and Prediction Integrated Tool) was used to conduct based on the mean of sugar content with a Bonferroni-corrected chromosome-wide significance threshold with a -logio(P) of 5.95. The significant SNPs were obtained with fructose (seven), glucose (six), maltose (four) and sucrose (nine). There were several genes related to sugar content around the significant SNPs such as sugar transport protein 8-like, probable galactose-1 -phosphate uridyltransferase-like and beta-amylase. These results will contribute to understanding of sugar content and conversion in sweetpotato.

• Journal of Animal Science and Technology
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• 제46권3호
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• pp.301-306
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• 2004

돼지 6번 염색체에서 근내지방 함량과 등지방 두께와 관련된 QTL이 탐색되어진 영역(6q28-6q32)에서 미세지도 작성을 위한 유용한 marker를 개발하기 위하여 실시하였다. 대량 염기서열 분석자료를 근거로, 반복염기서열 분석을 수행한 결과 KP0290F2(TTCC), KP0248C11(AAAT), KP1231C91(TAG), KP1231C92(TTG) 그리고 KP1231C93(GA)의 5 부위에서 다형성을 나타내었다. 이 부위들에 대한 랜드레이스, 재래돼지, 듀록, 요크셔, 버크셔, 오지산돈, 향돈 그리고 민돈의 8품종에 대한 유전자형 분석 결과 평균 대립유전자의 수는 2.13, 4.63, 7.38, 2.75 그리고 6.25로 나타났다. 그리고 8품종에 대한 KP0290F2, KP0248C11, KP1231C91, KP1231C92 그리고 KP1231C93에 대한 평균 heterozygosity 값을 산출한 결과, 0.2110, 0.6865, 0.8304, 0.4057 그리고 0.7051로 나타났으며, 5markers에 대한 8 품종의 평균 heterozygosity 값은 0.6313, 0.5662, 0.5814, 0.6957, 0.4517, 0.4847, 0.5758 그리고 0.5559로 나타났다. KP0248C11, KP1231C91 그리고 KP1231C93은 적절한 대립유전자 수를 나타내었고, 또한 hetetozygosity 값이 높게 나타났을 뿐만 아니라, 표준편차도 적게 나타난 점으로 미루어 보아 앞으로 유용한 marker로서 이용이 가능할 것이라 사료된다. 본 연구의 결과 개발된 marker는 SW71(98.6cM)과 SW1881(121.1 cM) 영역내에 존재하는 유용한 유전자를 발굴하기 위한 미세지도 작성에 유용하게 활용될 수 있는 marker로 판단되며, positional cloning에도 이용 할 수 있을 것이라 사료된다. 또한 돼지 게놈 연구가 완성되어 염기배열이 밝혀지기 전에 이용 가능한 표지인자들을 다량으로 확보 수 있을 것이라 사료된다.

• Childhood Kidney Diseases
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• 제3권2호
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• pp.209-216
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• 1999

목적 : 신성 요붕증(Nephrogenic diabetes insipidus, NDI)은 바소프레신(arginine vasoporessin, AVP)에 대한 신세뇨관의 저항성으로 인하여 요농축의 장애를 특징으로 하는 드문 유전성 질환이다. 반성유전형 신성 요붕증은 바소프레신 V2수용체(AVPR2)의 장애에 기인하며, NDI 환자에서 지금까지 다양한 AVPR2의 돌연변이가 보고되었다. 저자들은 임상적으로 반성 유전형 신성 요붕증으로 진단된 가계에서 AVPR2 유전자의 돌연변이를 발견하기 위하여 분자유전학적 검사를 실시하였다. 방법 : 대상환자의 백혈구에서 추출한 DNA로 AVPR2유전자를 polymerase chain reaction-single strand conformational polymorphism(PCR-SSCP)분석하여 이상이 발견된 부분은 클론닝하여 염기서열을 분석하였다. 같은 PCR 산물을 Hae III로 처리하여 PCR-RFLP(restriction fragement length polymorphism) 분석을 하였다. 결과 : AVPR2 유전자를 PCR-SSCP 분석하였을 때 PCR 산물의 정상인과 이동거리의 차이가 발견되어 환아에서 돌연변이가 있고 환아의 어머니는 보인자임을 예측하였고, 염기서열을 분석하여 675번째 염기 A가 G로 치환됨으로 tryptophan이 cysteine으로 바뀌는 R202C 점돌연변이를 발견하였다. 같은 PCR 산물을 PCR-RFLP 분석을 하였을 때 돌연변이로 인한 Hae III의 인지부위의 상실을 확인하였고 환아의 어머니가 이종접합보유자 (heterozygote)임을 확인하였다. 결론 : 저자들은 임상적으로 신성 요붕증으로 확인된 환아와 어머니의 V2 수용체 유전자를 분석하여 R202C 돌연변이를 확인하였다. 신성 요붕증은 진단이 지연되면 성장장애, 정신박약과 사망을 초래할 수 있는 심각한 질환이나, 태생기 또는 신생아기에 진단하면 후유증을 예방할 수 있으므로 조기진단 및 보인자 발견에 분자유전학적 진단 방법을 적극 활용하여야 하겠다.

• 생물정신의학
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• 제25권4호
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• pp.101-109
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• 2018

Objectives According to previous studies, the Chromogranin B (CHGB) gene could be an important candidate gene for schizophrenia which is located on chromosome 20p12.3. Some studies have linked the polymorphism in CHGB gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. Methods We measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. Results The natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was $4.19{\pm}0.19$ and that of poor SPEM function group was $3.17{\pm}0.65$. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). Conclusions Despite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.nwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. MethodsZZWe measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. ResultsZZThe natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was $4.19{\pm}0.19$ and that of poor SPEM function group was $3.17{\pm}0.65$. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). ConclusionsZZDespite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.

• 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.