• Molecules and Cells
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• 제24권1호
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• pp.83-94
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• 2007

During monocarpic senescence in higher plants, functional stay-green delays leaf yellowing, maintaining photosynthetic competence, whereas nonfunctional stay-green retains leaf greenness without sustaining photosynthetic activity. Thus, functional stay-green is considered a beneficial trait that can increase grain yield in cereal crops. A stay-green japonica rice 'SNU-SG1' had a good seed-setting rate and grain yield, indicating the presence of a functional stay-green genotype. SNU-SG1 was crossed with two regular cultivars to determine the inheritance mode and identify major QTLs conferring stay-green in SNU-SG1. For QTL analysis, linkage maps with 100 and 116 DNA marker loci were constructed using selective genotyping with $F_2$ and RIL (recombinant inbred line) populations, respectively. Molecular marker-based QTL analyses with both populations revealed that the functional stay-green phenotype of SNU-SG1 is regulated by several major QTLs accounting for a large portion of the genetic variation. Three main-effect QTLs located on chromosomes 7 and 9 were detected in both populations and a number of epistatic-effect QTLs were also found. The amount of variation explained by several digenic interactions was larger than that explained by main-effect QTLs. Two main-effect QTLs on chromosome 9 can be considered the target loci that most influence the functional stay-green in SNU-SG1. The functional stay-green QTLs may help develop low-input high-yielding rice cultivars by QTL-marker-assisted breeding with SNU-SG1.

• Archives of Plastic Surgery
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• 제33권4호
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• pp.433-439
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• 2006

Purpose: DNA in most cell is regularly damaged by endogenous and exogenous mutagens. Unrepaired damage resulted in apoptosis or may lead to unregulated cell growth and cancer. Inheritance of genetic variants at one or more loci results in an reduced DNA repair capacity. These polymorphisms are highly prevalent in the population, and therefore the attributable risks for cancer could be high. Several studies have documented that polymorphisms of XRCC1, XPD and XRCC3 are associated with skin cancer, especially, XRCC1 among of them has been reported frequently. So, this study involves the relationship between mutation of XRCC1 of squamous cell and basal cell cancer of the skin and risk of cancer development in Korean population. Methods: In case control study, study population (n=100, each cancer) is patients who were pathologically diagnosed as skin cancer(squamous cell carcinoma and basal cell carcinoma) in Yonsei Wonju Christian Hospital and Bundang CHA General Hospital between 1998 and 2004. The samples of DNA from whom no history of premalignant skin lesion and other malignant diseases were reported belonged to the control group(n=210). Blood and tissue samples were analyzed for presence of XRCC1 Arg399Glu, Arg280His, Arg194Trp using PCR/ RFLP method. Results: For Korean, there was a significant correlation between XRCC1 Arg399Gln gene mutation and risk of basal cell carcinoma development(Arg 399Gln(GA), p=0.012, OR=2.016, 95% CI; 1.230-3.305) /Arg399Gln (AA), p=0.011, OR=1.864, 95% CI; 1.149-3.026)). And, there was also significant correlation between XRCC1 Arg194Trp and risk of skin squamous cell carcinoma development (Arg194Trp (CT+TT), p=0.041, OR=0.537, 95% CI; 0.301-0.960)). In contrast, there was no significant correlation between XRCC1 Arg280His and risk of either basal cell carcinoma or squamous cell carcinoma development. Conclusions: Our result present that XRCC1 Arg399 Gln in basal cell carcinoma and XRCC1 Arg194Trp in squamous cell carcinoma have possibility of cancer risk and biomarker in Korean population. But XRCC1 Arg280 His known having cancer risk on other studies is not associated with cancer risk to squamous cell carcinoma and basal cell carcinoma in Korean population.

• 한국산림과학회지
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• 제87권3호
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• pp.422-428
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• 1998

구상나무 개체목으로부터 채취한 48개의 배유조직을 이용해서 PCR 방법에 의해 생성된 inter-simple sequence repeats(I-SSR) 표지자를 분석했다. 예비실험에서 6개의 배유조직을 이용해서 35개의 primer를 검색했으며, 그들 중에서 PCR 반응이 가장 잘되는 19개 primer를 선정해서 48개 배유조직을 이용한 본 실험에 사용했다. 카이자승 검정 결과, 19개 primer에 의해 증폭된 51개의 증폭산물이 5% 유의 수준에서 멘델의 분리비(1:1)에 따라 차대에 유전됨을 확인할 수 있었다. 멘델 유전자좌로 확인된 51개 표지자들의 게놈내 분포양상을 확인하기 위해서 연관분석을 수행한 결과, 51개 유전자좌들이 상호간에 서로 연관되어있지 않은 것으로 확인되어 이들이 전체 게놈상에 고르게 분포하고 있음을 확인할 수 있었다. 본 연구에서 관찰된 51개 유전자좌들이 게놈상에 고르게 분포하고 있다는 특성 때문에 게놈상의 특정부위에 편중되지 않은 유전정보를 얻을 수 있다는 장점이 있다. 즉, 기존의 RAPD 표지자들 중 상당수가 독립적인 연관군을 형성하는 것으로 알려져 있기 때문에 이들 연관군이 위치한 특정 부위의 DNA를 증폭하여 분석하는 RAPD 표지자에 비해서 I-SSR 표지자들이 유전 다양성을 추정하는데 더 유용한 표지자로 활용될 수 있을 것으로 생각되며, 이들 표지자들이 독립적인 진화의 과정을 겪을 것으로 기대되기 때문에 cladistic 방법에 의해 진화적 유연관계를 추정하는데 더 적합한 표지자로 생각된다.

• Asian Pacific Journal of Cancer Prevention
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• 제14권2호
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• pp.619-624
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• 2013

Background: Colorectal cancer (CRC) exists in a more common sporadic form and less common hereditary forms, associated with the Lynch syndrome, familial adenomatous polyposis (FAP) and other rare syndromes. Sporadic CRC is believed to arise as a result of close interaction between environmental factors, including dietary and lifestyle habits, and genetic predisposition factors. In contrast, hereditary forms such as those related to the Lynch syndrome result from inheritance of germline mutations of mismatch repair (MMR) genes. However, in certain cases, the influence of low penetrance alleles in familial colorectal cancer susceptibility is also undeniable. Aim: To investigate the genotype frequencies of MLH1 promoter polymorphism -93G>A and to determine whether it could play any role in modulating familial and sporadic CRC susceptibility risk. Methods: A case-control study comprising of 104 histopathologically confirmed CRC patients as cases (52 sporadic CRC and 52 Lynch syndrome patients) and 104 normal healthy individuals as controls was undertaken. DNA was extracted from peripheral blood and the polymorphism was genotyped employing PCR-RFLP methods. The genotypes were categorized into homozygous wild type, heterozygous and homozygous variants. The risk association between these polymorphisms and CRC susceptibility risk was calculated using binary logistic regression analysis and deriving odds ratios (ORs). Results: When risk association was investigated for all CRC patients as a single group, the heterozygous (G/A) genotype showed a significantly higher risk for CRC susceptibility with an OR of 2.273, (95%CI: 1.133-4.558 and p-value=0.021). When analyzed specifically for the 2 types of CRC, the heterozygous (G/A) genotype showed significantly higher risk for sporadic CRC susceptibility with and OR of 3.714, (95%CI: 1.416-9.740 and p-value=0.008). Despite high OR value was observed for Lynch syndrome (OR: 1.600, 95%CI: 0.715-3.581), the risk was not statistically significant (P=0.253). Conclusion: Our results suggest an influence of MLH1 promoter polymorphism -93G>A in modulating susceptibility risk in Malaysian CRC patients, especially those with sporadic disease.

• 한국균학회지
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• 제24권4호통권79호
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• pp.237-245
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• 1996

팽이버섯 야생종과 재배종들의 esterase isozyme 밴드패턴을 비교하고 그 중 특정 야생종 ASI 4019균을 단포자 분리후 교배형을 결정하였다. 단포자의 PDA plate상에 색소 집적과자실체 형성관계를 비교한 결과, 갈색 색소를 집적시킨 단포자와 색소를 집적시키지 않은 단포자간 교배시 갈색 자실체를 형성하였으며 색소를 집적시키지 않은 백색 단포자간 교배한 결과 백색 자실체를 형성하였다. 백색자실체는 재배종의 백색과 색택이 다르게 나타났다. 백색 균사체를 나타내는 단포자와 재배종 단포자를 교배한 결과 연갈색 자실체가 나타났으며 이 Fl의 단포자를 재배종 단포자와 여교배하여 BC1F1을 비교한 결과 1계통은 연갈색 자실체만 형성하고 또 다른 한계통은 연갈색 자실체 8개, 연갈색과 백색 자실체가 혼합된 것이 2개 있었다.

• 한국해양학회지:바다
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• 제5권2호
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• pp.157-168
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• 2000

우리나라 동해안에 서식하는 새치성게(Strongylocentrotus intermedius)는 둥근성게과(Strongylocentrotidae)에 속하는 냉수성 해양 무척추동물이다. 둥근성게과에는 현재 9종의 성게가 속해 있으나, 아직 종간의 분류 기준, 계통 분류학적 유연관계, 진화과정 등이 잘 밝혀져 있지 않다. 본 연구는 유전자 염기서열이라는 분자형질을 이용하여 새치성게의 종 분류기준을 확립하고 이 종의 계통진화 및 분화 시기를 파악하고자 수행되었다. 이를 위하여 변화율이 빠르고 모계로만 유전되는 특성을 가진 미토콘드리아의 한 유전자인 cytochrome c oxidase subunit I(COI)을 분석하였다. 새치성게의 생식소에서 DNA를 추출하고 중합효소연쇄반응으로 COI 유전자 단편을 선택적으로 증폭하였으며, 클로닝과 시퀀싱 과정을 거쳐 COI 유전자의 단편 1077개 염기쌍 순서(염기서열)를 확정하였다. 이 염기서열과 유전자 데이터베이스(GenBank)에 들어있는 다른 성게 및 해삼, 불가사리의 유전자를 비교하고 그 분자 계통수를 작성함으로써 새치성게의 진화과정을 분석하였다. COI 유전자 계통수는 새치성게가 태평양 동쪽 연안에 서식하는 S. purpuratus와 계통적으로 자매군(sister species)의 관계에 있음을 보였다. 두 종의 분화 시기는 계통수 상 분지의 길이와 화석연대를 고려하여 산출했을 때 지구 온도의 변동이 심했던 약 890만년 전으로 추정되었다. 태평양의 동안과 서안으로 분리된 두 종의 현재 분포와 종분화 시기의 지구 환경조건은 두 종간의 분화가 환경변화에 따른 개체군의 지리적 분리(vicariance)에 의한 것임을 시사해 준다. 한편, 새치성게의 COI 유전자염기서열은 이 종을 대표하는 분자형질로서 둥근성게과의 성게들을 서로 구분할 수 있는 종분류의 기준이 될 것이다.

• 대한임상검사과학회지
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• 제36권2호
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• pp.110-114
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• 2004

Apolipoprotein E is the major lipid-carrier protein in the brain, and several studies provided evidence that apolipoprotein E(ApoE) epsilon4 allele can be considered a genetic risk factor for Alzheimer's disease(AD). Inheritance of the APOE gene has three alleles: ${\varepsilon}2$, ${\varepsilon}3$ and ${\varepsilon}4$. There are six possible genotypes: ${\varepsilon}2/{\varepsilon}2$, ${\varepsilon}3/{\varepsilon}3$, ${\varepsilon}4/{\varepsilon}4$, ${\varepsilon}2/{\varepsilon}3$, ${\varepsilon}2/{\varepsilon}4$, ${\varepsilon}3/{\varepsilon}4$. AD is characterized by a progressive loss of function and death of nerve cells in several areas of the brain. The ${\varepsilon}4$ allele is associated with a risk for developing AD. People with the ${\varepsilon}4/{\varepsilon}4$ genotype have the highest risk, but people with the ${\varepsilon}2/{\varepsilon}4$ or ${\varepsilon}3/{\varepsilon}4$ genotypes are also likely to develop the disease. 64.3% of people carry the is ${\varepsilon}3/{\varepsilon}3$ genotype, 22.1% carry the second ${\varepsilon}3/{\varepsilon}4$ genotype but, ${\varepsilon}2/{\varepsilon}2$ genotype is not usually found of people carry the 3.6% is ${\varepsilon}4/{\varepsilon}4$ genotype in a total of a test group of 140 people. The ratio of ${\varepsilon}4/{\varepsilon}4$ genotype related directly with AD is less than the ${\varepsilon}3/{\varepsilon}3$ genotype, but the ${\varepsilon}2/{\varepsilon}4$ and ${\varepsilon}3/{\varepsilon}4$ genotype ratio of indirect AD risk is 25.7% in the group of people, regardless. Thus, we have referred to the benefit from the treatment of AD through apoE genotype diagnosis.

• 원예과학기술지
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• 제34권6호
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• pp.912-923
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• 2016

Watermelon production is often limited by powdery mildew in areas with a large daily temperature range. Development of resistant watermelon cultivars can protect against powdery mildew; however, little is known about the characteristics of its causal agents. Here, we identified the genus and race of a causal pathogen of powdery mildew in Ansung province of South Korea, and developed molecular markers for the generation of resistant watermelon cultivars. The causal pathogen was determined to be Podosphaera xanthii based on multiple sequence alignments of internal transcribed spacers (ITS) of rDNA. The physiological race was identified as 1W, and the Ansung isolate was named P. xanthii 1W-AN. Following inoculation with the identified P. xanthii 1W-AN, we found inheritance of the resistant gene fitting a single dominant Mendelian model in a segregated population ('SBA' ${\times}$ PI 254744). To develop molecular markers linked to fungus-resistant loci, random amplified polymorphic DNA (RAPD) was accomplished between DNA pooled from eight near-isogenic lines (NILs; $BC_4F_6$), originated from PI 254744 and susceptible 'SBB' watermelon. After sequencing bands from RAPD were identified in all eight NILs and PI254744, 42 sequence-characterized amplifiedregion (SCAR) markers were developed. Overall, 107 $F_2$ plants derived from $BC_4F_6$ NIL-1 ${\times}$ 'SBB' were tested, and one SCAR marker was selected. Sequence comparison between the SCAR marker and the reference watermelon genome identified three Nco I restriction enzyme sites harboring a single nucleotide polymorphism, and codominant cleavage-amplified polymorphic site markers were subsequently developed. A CAPS marker was converted to a high-resolution melt (HRM) marker, which can discriminate C/T SNP (254PMR-HRM3). The 254PMR-HRM3 marker was evaluated in 138 $F_{2:3}$ plants of a segregating population ('SBA' ${\times}$ PI254744) and was presumed to be 4.3 cM from the resistance locus. These results could ensure P. xanthii 1W-AN resistance in watermelon germplasm and aid watermelon cultivar development in marker-assist breeding programs.

• 대한유전성대사질환학회지
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• 제15권1호
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• pp.49-54
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• 2015

다발성 골단이형성증은 비교적 흔한 골이형성증으로 소아기에 관절통과 관절 강직, 뒤뚱거리면 걸어가는 보행 및 일부에서 경한 저신장을 특징으로 하며 영상의학적 검사에서는 여러 관절에서 골단의 불규칙한 소견과 골화 지연을 보인다. 본 증례 환자는 임상적, 영상의학적으로 다발성 골단이형성증을 진단 할 수 있었으며 환자의 넓적다리 관절 영상 검사는 MATN3 유전자 변이를, 무릎 관절 영상 검사는 COMP 유전자 변이를 시사하였기에 MATN3과 COMP 유전자 변이에 대해 시퀀싱(sequencing)을 하였으나, 변이는 발견되지 않았다. 이후 엑솜시퀀싱(exomesequencing)을 시행하였으나, 기존에 다발성 골단이형성증과 관련이 있는 것으로 알려진 유전자에 대한 변이가 발견되지 않았다. 본 증례와 같이 임상적, 영상의학적으로 다발성 골단이형성증으로 진단가능 하였으나 분자유전학적으로 기존에 알려진 변이 유전자가 발견되지 않은 환자들을 위해 추가적인 연구가 필요할 것으로 보인다.

• Molecules and Cells
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• 제25권3호
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• pp.417-427
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• 2008

Comparison of maps and QTLs between populations may provide us with a better understanding of molecular maps and the inheritance of traits. We developed and used two reciprocal $BC_1F_1$ populations, IP/DS//IP and IP/DS//DS, for QTL analysis. DS (Dasanbyeo) is a Korean tongil-type cultivar (derived from an indica x japonica cross and similar to indica in its genetic make-up) and IP (Ilpumbyeo) is a Korean japonica cultivar. We constructed two molecular linkage maps corresponding to each backcross population using 196 markers for each map. The length of each chromosome was longer in the IP/DS//IP population than in the IP/DS//DS population, indicating that more recombinants were produced in the IP/DS//IP population. Distorted segregation was observed for 44 and 19 marker loci for the IP/DS//IP and IP/DS//DS populations, respectively; these were mostly skewed in favor of the indica alleles. A total of 36 main effect QTLs (M-QTLs) and 15 digenic epistatic interactions (E-QTLs) were detected for the seven traits investigated. The phenotypic variation explained (PVE) by M-QTLs ranged from 3.4% to 88.2%. Total PVE of the M-QTLs for each trait was significantly higher than that of the E-QTLs. The total number of M-QTLs identified in the IP/DS//IP population was higher than in the IP/DS//DS population. However, the total PVE by the M-QTLs and E-QTLs together for each trait was similar in the two populations, suggesting that the two $BC_1F_1$ populations are equally useful for QTL analysis. Maps and QTLs in the two populations were compared. Eleven new QTLs were identified for SN, SF, GL, and GW in this study, and they will be valuable in marker-assisted selection, particularly for improving grain traits in tongil-type varieties.