• Asian Pacific Journal of Cancer Prevention
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• 제16권13호
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• pp.5557-5563
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• 2015

Background: Cholelithiasis is associated in 54%-98% of patients with carcinoma of the gallbladder, and a high incidence among females suggests a role of female hormones in the etiology of the disease. Cytochrome $P450C17{\alpha}$ (CYP-17) is a key enzyme involved in estrogen metabolism and polymorphisms in CYP-17 are associated with altered serum levels of estrogens. Thus, we investigated whether the CYP-17 MspA1 gene polymorphism might impact on risk of gall bladder cancers or gallstones, as well as to determine if this gene polymorphism might be linked with estrogen serum levels and lipid profile among the North Indian gall bladder cancer or gallstone patients. Materials and Methods: CYP-17 gene polymorphisms (MspA1) were genotyped with PCR-RFLP in cancer patients (n=96), stone patients (n=102), cancer + stone patients (n=52) and age/sex matched control subjects (n= 256). Lipid profile was estimated using a commercial kit and serum estrogen was measured using ELISA. Results: The majority of the patients in all groups were females. The lipid profile and estrogen level were significantly higher among the study as compared to control groups. The frequency of mutant allele A2 of CYP17 MspA1 gene polymorphism was higher among cancer (OR=5.13, 95% CI+3.10-8.51, p=0.0001), stone (OR=5.69, 95%CI=3.46-9.37, p=0.0001) and cancer + stone (OR=3.54, 95%CI=1.90-6.60, p=0.0001) when compared with the control group. However there was no significant association between genotypes of CYP17 MspA1 gene polymorphism and circulating serum level of estrogen and lipid profile. Conclusions: A higher frequency of mutant genotype A1A2 as well as mutant allele A2 of CYP-17 gene polymorphism is significantly associated with risk of gallbladder cancer and stones. Elevated levels of estrogen and an altered lipid profile can be used as predictors ofgall bladder stones and cancer in post menopausal females in India.

• 대한임상검사과학회지
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• 제49권4호
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• pp.345-349
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• 2017

당뇨병은 대사 증후군 및 심혈관 질환을 비롯한 다양한 건강상의 부작용과 관련이 있다. 또한 당뇨병의 증가로 사회 및 의학적 관심이 증가하고 있다. 제 2 형 당뇨병의 특징 중 하나는 혈당이 증가한다는 것이다. 공복 혈당치는 가장 기본적이고 널리 사용되는 당뇨병의 지표이다. TLR4 발현은 심장에서 비교적 높다. 그러나 공복 시 혈당과 TLR4의 관련성에 대한 연구가 있었다. 한국인에서 TLR4 유전자와 공복 시 혈당의 단일 염기 다형성(SNP)의 관련성을 알아 보았다. 서울시에서 총 994 명을 대상으로 TLR4 SNP를 이용한 연구를 실시했다. 공복 시 혈당과 관련하여 TLR4 유전자 영역은 연쇄 불균형으로 나타 났으며 유전자의 범위가 매우 크기 때문에 여러 개의 LD 블록으로 보였다. TLR4 유전자의 SNP는 평균 공복 시 혈당과 관련이 있었다(p<0.01). 공복 시 혈당과 관련 크기는 p-value를 $-log^{10}$의 값으로 하였다. rs1329067의 minor allele frequency는 16.4%였고 AA 유전자형을 가진 사람들은 GG 유전자형을 가진 사람들 보다 공복 시 혈당이 높았다. 이 연구는 TLR4의 유전 적 변이가 한국 성인의 혈당 수치에 영향을 미친다는 것을 암시한다.

• 대한수의학회지
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• 제40권2호
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• pp.283-290
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• 2000

The present study was carried out to investigate the blood markers of Cheju horses. The blood protein types (biochemical polymorphism) were tested from 73 Cheju native horses (CNH) and 118 Cheju racehorses(CRH) by horizontal polyacrylamide gel electrophoresis (HPAGE), isoelectric focusing (IEF) and starch gel electrophoresis (SGE). At the same time, their phenotypes and gene frequencies were studied. The biochemical polymorphism phenotypes observed with high frequency were A1B-KK(97.3%), ALB-AB(49.3%), AP-SS(100%), ES-II(30.1%), GC-FF(87.7%), HB-BIBI(49.3%), TF-F2R(41.1%), TF-EF2(8.2%), PGD-FF(97.3%), PGM-SS(50.7%), GPI-II(74.0%) in CNH, While A1B-KK(99.2%), ALB-BB(50.8%), AP-SS(99.2%), ES-II(42.4%), ES-IS(14.4%), GC-FF(95.8%), HBB-IB II(39.8%), TF-F2R(21.2%), PGD-FF(77.1%), PGD-SS(4.3%), PGM-SS(72.9%), GPI-II(90.7%) in CRH. Alleles observed with high frequency were $AlB^{K}$(0.986), $ALB^{B}$(0.616), $AP^{S}$(1.000), $ES^{I}$(0.479), $ES^{F}$(0.274), $GC^{F}$(0.938), $GPI^{I}$(0.856), $HB^{BI}$(0.685), $PGD^{F}$(0.993), $PGM^{S}$(0.753), $TF^{F2}$(0.404), $TF^{R}$(0.397) in CNH and $AlB^{K}$(0.996), $ALB^{B}$(0.720), $AP^{S}$(0.996), $ES^{I}$(0.661), $ES^{F}$(0.203), $GC^{F}$(0.979), $GPI^{I}$(0.936), $HB^{BI}$(0.534), $PGD^{F}$(0.864), $PGM^{S}$(0.852), $TF^{F2}$(0.428), $TF^{R}$(0.272) in CRH. $TF^{E}$(0.041) allele and silent gene($ES^{I{^*}}$ : 0.014) were observed in CNH. The mean heterozygosity in CNH and CRH was observed 0.2974 and 0.2864, respectively.

• 생물정신의학
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• 제14권1호
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• pp.55-60
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• 2007

Objectives : There have been many association studies of panic disorder. However, studies about the dopaminergic function in panic disorder have been few. This study was aimed to examine the possible association of dopamine transporter gene(DAT1) polymorphism and panic disorder in Korean population. Methods : Ninety-eight patients with panic disorder(43 male(46.9%), mean age $42.13{\pm}10.88$ years) and one hundred and thirteen comparison subjects(67 male(40.7%), mean age $33.14{\pm}8.55$ years) were tested for DAT1 polymorphism. Genotypes of DAT1 with variable number of tandem repeats(VNTR) were determined using polymerase chain reaction. The differences of allelic frequency and genotype frequency distribution between patient and the control group were tested with Fisher-Freeman-Halton test. Results : There was association between DAT1 polymorphism and panic disorder(allele : p<0.03, genotype : p<0.05). The frequency of 10/10 homozygotes of DAT1 was significantly higher in control group(${\chi}^2$=4.452, df=1, p=0.035). Conclusion : These results in our Korean samples suggest that DAT1 polymorphism might be associated with the vulnerability of panic disorder. Possible association of dopaminergic genes and panic disorder should be investigated with future studies using larger and different population.

• Asian Pacific Journal of Cancer Prevention
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• 제17권7호
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• pp.3381-3384
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• 2016

Background: Hepatitis B virus (HBV) is a key factor for hepatocellular carcinoma (HCC). About 350 million people are affected by chronic infection which is related to the rapid development of liver diseases as well as hepatitis, cirrhosis and hepatocellular carcinoma. Expression of tumor necrosis factor alpha (TNF-${\alpha}$) in the liver demonstrates a major genetic polymorphism which is involved in resistance or susceptibility to chronic HBV infection. Materials and Methods: In this study, two populations were studied by the sequence specific primer-polymerase chain reaction (SSP-PCR) method: HBV cases (n=409), who were HBS-Ag+, and healthy controls (n=483). Results: The results shown that the frequency of TNF-${\alpha}$ -308 G/G genotype in healthy controls (47.2%) was significantly higher than in HBV infected patients (28%) (CI = 1.29-2.61, OR = 1.83, P = 0.0004). Also TNF-${\alpha}$ -308 A/A and A/G genotype frequencies in the healthy controls were 4.6% and 48.2% and in patient group were 19.5% and 52.5% (CI = 2.23-7.12, p: 0.0001, OR: 3.94) respectively. Conclusions: We found that among Iranian people TNF-${\alpha}$ -308A allele not only has the highest genotype frequency but also it has the highest frequency in the world population. In addition, TNF-${\alpha}$-308 G/G polymorphism was associated with HBV resistance, whereas TNF-${\alpha}$-308A (A/A or A/G) polymorphism appeared to associated with chronic HBV infection. These data suggested that among the Iranian population, the -308 G/G polymorphism of TNF-${\alpha}$ gene promoter region has the potential to influence the susceptibility to HBV infection and it may be responsible for viral antigen clearance.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.20-25
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• 2016

Purpose: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first molecularly confirmed Korean patient of XP by targeted exome sequencing. The prevalence of XP included all subtype and carrier frequency of XP-A the using public data were estimated for the first time in South Korea. Materials and Methods: We described a 4-year-old Korean girl with clinical diagnosis of XP. We performed targeted exome sequencing in the patient for genetic confirmation considering disease genetic heterogeneity and for differential diagnosis. We verified a carrier frequency of c.390-1G>C in XPA gene known as mutational hot spot using Korean Reference Genome Data Base. We estimated the period prevalence of all subtypes of XP based on claims data of the Health Insurance Review and Assessment Service in South Korea. Results: We identified homozygous splicing mutation of XPA (c.390-1G>C) in the patient. The carrier frequency of risk for XPA (c.390-1G>C) was relatively high 1.608 e-03 (allele count 2/1244). The prevalence of XP in South Korea was 0.3 per million people. Conclusion: We expect that c.390-1G>C is hot spot for the mutation of XPA and possible founder variant in South Korea. However, the prevalence in South Korea was extremely low compared with Western countries and Japan.

• 생물정신의학
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• 제14권2호
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• pp.106-114
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• 2007

Objective : It is suggested that disturbance of dopaminergic system might be related to the possible mechanism of social phobia. The aim of this study was to investigate the possible association of DRD2 TaqI polymorphism and social phobia. Method : Fifty-one patients with social phobia and 200 comparison subjects were tested for DRD2 TaqI A polymorphism. The severity of social phobic symptoms was measured by self-report version of the Liebowitz Social Anxiety Scale(LSAS-SR) and Hamilton anxiety scale(HAM-A). Results : There was no signigicant difference in the genotype, allele frequency, A1 carrier frequency, and heterozygote frequency DRD2 TaqI A polymorphism between the social phobia patients and the control groups. However, we found significant decrease in somatic anxiety of the HAM-A in the patients having A2A2 homozygotes(p=0.014). In addition, patients having A1A2 heterozygotes showed more anxiety in two subscales (p=0.042 in anxiety, p=0.019 in performance) of the LSAS-SR. Conclusion : These results suggest that DRD2 A2 homozygote might have a protective role against somatic anxiety, and molecular heterosis of DRD2 TaqI A polymorphism might be related with more severe anxiety in social phobia.

• 식물분류학회지
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• 제46권4호
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• pp.378-391
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• 2016

돌나물과 한국특산종 태백기린초의 교잡 기원에 대한 가설을 검증하고, 연관 종들의 형태적, 유전적 변이를 알아보기 위해 40개 집단으로부터 18개의 형태형질과 35개 집단에 10개 동위효소 좌위를 분석하였다. 동위효소 연구결과 가는기린초, 기린초 그리고 속리기린초에 높은 빈도로 나타났던 $MDH-2^a$, $PGI-1^a$는 태백기린초 집단에서는 전혀 나타나지 않았으며, 태백기린초의 모든 집단에서 높은 빈도로 나타나는 $MDH-2^c$는 다른 가는기린초아속 식물에서는 낮은 빈도로 나타나고 있어 태백기린초가 기린초와 가는기린초의 잡종화를 통해 기원되었다는 기존의 가설을 지지할 수 없다. 그러나 금대봉 일대의 일부 집단의 개체들은 태백기린초와 기린초 혹은 기린초와 가는기린초 사이에서 형질이입에 의해 만들어진 교잡 개체일 가능성이 높은 것으로 생각된다.

• 한국작물학회지
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• 제52권1호
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• pp.81-88
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• 2007

본 연구는 농진청 종자은행에 보존된 한국, 중국 및 일본 재래종 콩과 한국 야생콩의 SSR profile 작성과 그들의 유전적 구조 해석을 위해 9개의 SSR 마커에 의해 분석되었다. 1. DNA profiling은 유전자좌별로 2,855(Satt458)점$\sim$4,368(Satt197)점이 분석되어 35,655건이 데이터베이스화되었다. 2. 총 대립인자수는 267개였고 유전자좌당 평균 29.6개의 높은 다형성을 나타냈다. 유전자좌별 대립인자 수는 21개(Satt532 및 Satt141)부터 58개(Sat_074)까지 나타났다. 자원내력별 대립인자수는 한국 야생콩에서 196개로 가장 많은 것으로 나타난 반면, 일본 재래종 콩에서는 가장 적은 115개로 나타났다. 3. 집단에 따른 유전자좌별 대립인자의 범위로 한국 재래종 콩이 가장 많은 5개의 유전자좌(Sat_074, Satt141, Satt286, Satt545, Satt458)에서 다음으로는 한국 야생콩이 4개의 유전자좌(Satt187, Satt532, Satt245, Satt197)에서 가장 넓은 것으로 나타났다. 그러나 대립 인자수면에서는 한국 재래종 콩이 5개의 유전자좌(Sat_074, Satt141, Satt197, Satt545, Satt458)에서 가장 많은 대립인자수를 나타냈고, 한국 야생콩은 나머지 4개의 유전자좌(Satt187, Satt532, Satt245, Satt286)에서 가장 많은 대립인자수를 나타냈다. 4. 대립인자 분포에 있어 전체적으로 한국 야생콩 집단은 재래종 집단들에 비해 고른 분포를 나타냈고 대립인자의 크기가 큰쪽(high ladder)에서보다 작은쪽(low ladder)에서 높은 분포를 나타냈다. 5. 재래종 집단들 간에 대립인자 분포를 살펴보면, 한국 집단은 Satt286(202 bp, 232 bp)에서, 중국집단은 Satt197(171 bp)와 Satt458(173 bp)에서 그리고 일본집단은 Sat_074(244 bp)와 Satt458(170 bp)에서 매우 높은 것으로 나타났다.

• Clinical and Experimental Pediatrics
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• 제46권4호
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• pp.340-344
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• 2003

목 적 : RDS 발생과 BPD로의 이행을 예측 할 수 있고, 스테로이드 치료에 새로운 지표로서 사용 될 수 있는 SP-A2의 유전자 대립형질의 한국분포 및 빈도를 밝히고 새로운 종류의 유전자 대립형질을 발견하기 위하여 본 연구를 하였다. 방 법 : 2002년 4월부터 2002년 6월까지 순천향대학교 천안병원과 경희대학교병원 신생아실에 입원한 정상 신생아 71명을 대상으로 하였다. SP-A2 유전자의 대립 형질을 위하여 시발체(primer) 726/96, 727/21, 799/28A, 805/494를 이용하여 증폭시킨 후 9, 91, 140, 223위치의 뉴클레오티드(nucleotide)를 알아 보기 위하여 각 위치에 맞는 제한 효소(restriction enzyme)를 이용하여(PCR-cRFLP-based methodology) 자른 후 전기 영동하여 염기서열의 차이를 알아냈다. 결 과 : 아미노산 염기서열의 차이에 의하여, 1A, $1A^0$, $1A^1$, $1A^2$, $1A^3$, $1A^5$, $1A^6$, $1A^7$, $1A^8$, $1A^9$, $1A^{11}$, $1A^{12}$ 등의 12개의 대립형질이 발견되었으며, SP-A2 중 1A=11.3%, $1A^0=38%$, $1A^1=12.7%$, $1A^2=9.2%$, $1A^5=15.5%$, $1A^7=2.9%$, $1A^8=4.9%$, $1A^9=2.2%$, others=3.3%의 분포를 보였다. 결 론 : RDS에 대해 보호체(protector)로 작용하는 $1A^5$의 빈도가 많은 것으로 보아 실질적으로도 우리나라에서 RDS의 발생률이 적을 것으로 생각된다. 스테로이드를 사용 할 때 유전자 발현에 많은 억제를 보이는 1A도 우리나라에서 많은 빈도를 보이므로 스테로이드 치료에 있어서 치료에 신중을 기해야겠다.