• Journal of Animal Science and Technology
• /
• 제47권2호
• /
• pp.159-166
• /
• 2005

Porcine myostatin(MS1N) gene plays a key role in the differentiation of myoblast and muscle development. Genetic polymorphism was screened by single stranded conformation polymorphism(SSCP) analysis and subsequent DNA sequencing detected a nucleotide substitution(C2150T) in exon 3 of MSIN gene. Phenotypic association of the polymorphism was tested in a Landrace population and positive effects of the allele T for lean growth traits were found in the population. Even though it is not significant, the pigs have IT and TC genotypes were heavier for the body weight at birth and at twenty weeks of age than those containing genotype. Cc. However, the allele T was significantly associated with higher eye muscle area(P < 0.05). As a result of this study, we suggested that the allele T in exon 3 of MSTN gene comes a significant effect for increasing the eye muscle area without decreasing backfat thickness. This polymorphism did not change the amino acid but Taq I -RFLP matched to SSCP band patterns in exon 3 of MSTN gene, which will be an useful molecular marker for breeding of Landrace pigs.

• 한국산림과학회지
• /
• 제102권2호
• /
• pp.223-228
• /
• 2013

파이토플라스마 증폭 프라이머, P1/P7 및 R16F2n/R2를 이용하여 뽕나무 품종 42개체에 대하여 뽕나무오갈병 파이토플라스마의 전염여부를 조사한 결과 공시 모두에서 파이토플라스마가 검출되었다. 뽕나무오갈병 파이토플라스마 단일염기변이를 SSCP분석기법을 응용하여 분석조건을 조사한 결과 P1/P7(약 1.8 kb) 및 R16F2n/R2(약 1.2kb)로 증폭한 PCR산물에서는 6% polyacrylamide gel 농도, 150V, $10^{\circ}C$의 전기영동 조건에서 SSCP밴드패턴이 나타났다. 유사한 SSCP밴드 패턴을 보이는 두 시료간의 밴드형태를 뚜렷하게 구별하는 방법을 찾기 위하여 뽕나무 오갈병파이토플라스마와 대추나무 빗자루병 파이토플라스마의 P1/P7 및 R16F2n/R2 프라이머로 증폭한 PCR산물을 혼합한 후 SSCP분석 결과, 전기영동상에서 대추나무 파이토플라스마와 뽕나무 파이토플라스마의 SSCP 밴드패턴 모두를 관찰할 수 있었다. 본 연구 결과, 기존에 약 600 bp 크기로 한정된 것으로 알려진 SSCP 분석법을 응용하여 파이토플라스마 PCR 산물 1.8 kb 또는 1.2 kb 크기에서도 유사한 SSCP 밴드패턴에 의하여 단일염기변이를 검출할 수 있었다.

• Asian-Australasian Journal of Animal Sciences
• /
• 제20권8호
• /
• pp.1169-1173
• /
• 2007

The protein encoded by SLC27A2 gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family, and it converts free long-chain fatty acids into fatty acyl-CoA esters, and thereby plays a key role in lipid biosynthesis and fatty acid degradation. In the present study, SLC27A2 located on human chromosome 15 was selected as candidate gene and we isolated and cloned partial fragments of mRNA sequence and genomic fragments of porcine SLC27A2 gene. The coding region of the gene as determined by alignments shared 90% and 82% identity with human and mouse cDNAs, respectively. Detection in LargeWhite and Meishan breeds showed that a single nucleotide polymorphism (SNP) ($A{\rightarrow}G$) existed in exon 7, which caused corresponding amino acid changed for encoding. In LargeWhite pigs it encoded for Val while in Meishan pigs it encoded for Ile, so we developed the PCR-RFLP genotype method for detection of this polymorphism. Association study in 135 $F_2$ reference family indicated that significant correlation existed between the polymorphism and growth and carcass traits.

• Asian Pacific Journal of Cancer Prevention
• /
• 제16권5호
• /
• pp.1873-1880
• /
• 2015

Background: A recent genome-wide association study (GWAS) on patients with chronic hepatitis C (CHC) treated with peginterferon and ribavirin (pegIFN-${\alpha}$/RBV) identified a single nucleotide polymorphism (SNP) on chromosome 19 (rs12979860) which was strongly associated with a sustained virological response (SVR). The aim of this study was twofold: to study the relationship between IL28B rs12979860 and sustained virological response (SVR) to pegIFN-${\alpha}$/RVB therapy among CHC patients and to detect the rs12979860 polymorphism by high resolution melting curve (HRM) assay as a simple, fast, sensitive, and inexpensive method. Materials and Methods: The study examined outcomes in 100 patients with chronic hepatitis C in 2 provinces of Iran from December 2011 to June 2013. Two methods were applied to detect IL28B polymorphisms: PCR-sequencing as a gold standard method and HRM as a simple, fast, sensitive, and inexpensive method. Results: The frequencies of IL28B rs12979860 CC, CT, and TT alleles in chronic hepatitis C genotype 1a patients were 10% (10/100), 35% (35/100), and 6% (6/100) and in genotype 3a were 13% (13/100), 31% (31/100), and 5% (5/100), respectively. In genotype 3a infected patients, rs12979860 (CC and CT alleles) and in genotype 1a infected patients (CC allele) were significantly associated with a sustained virological response (SVR). The SVR rates for CC, CT and TT (IL28B rs12979860) were 18%, 34% and 4%, respectively. Multiple logistic regression analysis identified two independent factors that were significantly associated with SVR: IL-28B genotype (rs 12979860 CC vs TT and CT; odds ratio [ORs], 7.86 and 4.084, respectively), and HCV subtype 1a (OR, 7.46). In the present study, an association between SVR rates and IL28B polymorphisms was observed. Conclusions: The HRM assay described herein is rapid, inexpensive, sensitive and accurate for detecting rs12979860 alleles in CHC patients. This method can be readily adopted by any molecular diagnostic laboratory with HRM capability and will be clinically beneficial in predicting treatment response in HCV genotype 1 and 3 infected patients. In addition, it was demonstrated that CC and CT alleles in HCV-3a and the CC allele in HCV-1a were significantly associated with response to pegIFN-${\alpha}$/RBV treatment. The present results may help identify subjects for whom the therapy might be successful.

• Journal of Gastric Cancer
• /
• 제5권1호
• /
• pp.10-15
• /
• 2005

목적: 건강을 유지하는 데 비타민, 특히 엽산의 중요성이 근래에 강조되고 있다. 엽산의 결핍은 발달 지연을 일으켜 신생아에서 미성숙 혈관질환이나 신경관 결손 등의 중추 신경계 질환 등을 일으킬 수 있고, 급성 백혈병 같은 혈액학적 질환과도 연관된다. 또한, 과호모시스테인혈증과 연관되어 여러 폐색성 혈관성 질환 등을 유발하고, 출산 결손이나 다른 임신성 합병증을 유발하기도 한다. 특히 최근에는 위장관 신생 종양의 발생과도 연관된다고 보고되고 있다. Methylenetetrahydrofolate Reductase(MGHFR)는 엽산 대사에서 DNA 합성과 메틸화에 영향을 주는 필수 효소이다. MTHFR의 유전자 다형성은 아미노산의 변화와 효소 활성을 감소시키는 핵산의 유전자 다형성(677C $\rightarrow$T/Ala222Val)으로 정의되는데, 이때 효소 자체의 활성을 감소시켜 DNA 합성 저하와 저메틸화로 이어져 생체 내에서 발암성 변이를 일으켜 위장관계 종양과 연관된다. 우리는 MTHFR의 유전자 다형성과 위암의 발생 위험과의 관련성을 알아보기 위하여 본 연구를 시행하였다. 대상 및 방법: 2003년 7월부터 2004년 6월까지 위암으로 진단 받은 환자군 96명과 건강 검진에서 정상으로 판정 받은 대조군 287명의 혈청 표본으로 PCR-RFLP방법으로 MTHFR의 유전자 다형성을 구하여 위암에서의 연관성을 비교하였고, 환자군 내에서 암의 발생 위치와 낮은 체내 엽산 농도에 영향을 미치는 흡연력과 음주력에 대해 비교 하였다. 결과: 위암 환자 중 남자 69명($72\%$), 여자 27명($28\%$)이었고, 위 하부 58예($60\%$), 위 중부 20예($21\%$), 위 상부 18예($9\%$)였다. 위암 환자 중 흡연력이 있는 경우는 56명, 없는 경우는 40명이었고, 음주력이 있는 경우는 45명, 없는 경우는 51명이었다. 환자군에서 MTHFR의 유전자 다형성은 C/C 18($19\%$), C/T 59($61\%$), T/T 19($20\%$)였고, 대조군에서는 C/C 116($40\%$), C/T 103$40\%$), T/T 68($24\%$)이었다(P=0.045). 암의 위치에 따른 MTHFR유전자형의 분포는 위 하부에서 C/C 16($28\%$), C/T & T/T 42($77\%$)이었고, 위 중부 및 상부에서 C/C 2($5\%$), C/T & T/T 36($75\%$) 이었다(P=0.006). 환자군 내에서 흡연력 유무에 따른 MTHFR유전 자형의 분포는 흡연력이 있을 때 C/C 13($23\%$), C/T & T/T 43($77\%$)이었고, 흡연력이 없을 때 C/C 5($12\%$), C/T & T/T 35 ($88\%$)였다(P=0.189). 환자군 내에서 음주력 유무에 따른 MTHFR유전자형의 분포는 음주력이 있을 때 C/C 12($26\%$), C/T & T/T 33($74\%$)이었고, 음주력이 없을 때 C/C 6($12\%$), CT & T/T 45($88\%$)였다.(P=0.063). 결론: 본 연구에서는 MTHFR C/T & T/T 유전자 다형성이 위암의 발생과 그 위치에 대해 관련이 있는 것으로 여겨지고, 흡연력, 음주력과는 관련이 없는 것으로 여겨진다.

• The Korean Journal of Physiology and Pharmacology
• /
• 제16권5호
• /
• pp.339-342
• /
• 2012

Inter-individual pharmacokinetic variation of H2-receptor antagonist is related to genetic polymorphism of CYP2C19. We investigated the frequency of CYP2C19 genetic polymorphism and the treatment duration of cimetidine by CYP2C19 genotypes in functional dyspeptic patients without definite causes who were treated with cimetidine in Korea. One hundred subjects with functional dyspepsia participated in this study from March 1, 2010 to June 30, 2011. They were tested by upper gastrointestinal endoscopy and treated for their dyspepsia with cimetidine. The single nucleotide polymorphisms (SNPs) of CYP2C19 were genotyped using the Seeplex CYP2C19 ACE Genotyping system. There were no significant differences in the demographic, clinical, or laboratory findings among the CYP2C19 subgroups which are wild type homozygote (W/W), heterozygote (W/V), and variant homozygote (V/V). The frequencies of CYP2C19 subgroups were 33 (33%) in W/W, 49 (49%) in W/V, and 18 (18%) in V/V, respectively. The mean duration of cimetidine treatment (in weeks) was the shortest in the V/V among the CYP2C19 genotypes (W/W: $5.1{\pm}1.5$, W/V: $4.0{\pm}1.7$, V/V: $2.1{\pm}0.7$; p<0.001). This study can also act as a basis for further investigation to identify the underlying genetic, epigenetic, or environmental factors in CYP2C19 enzyme activity.

• Asian Pacific Journal of Cancer Prevention
• /
• 제17권2호
• /
• pp.647-653
• /
• 2016

Background: Breast cancer is the most common type of cancer affecting Malaysian women. Recent statistics revealed that the cumulative probability of breast cancer and related deaths in Malaysia is higher than in most of the countries of Southeast Asia. Single nucleotide polymorphisms (SNPs) in CYP2E1 (rs6413432 and rs3813867), STK15 (rs2273535 and rs1047972) and XRCC1 (rs1799782 and rs25487) have been associated with breast cancer risk in a meta-analysis but any link in Southeast Asia, including Malaysia, remained to be determined. Hence, we investigated the relationship between these SNPs and breast cancer risk among Malaysian women in the present case-control study. Materials and Methods: Genomic DNA was isolated from peripheral blood of 71 breast cancer patients and 260 healthy controls and subjected to polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Results: Our study showed that the c1/c2 genotype or subjects with at least one c2 allele in CYP2E1 rs3813867 SNP had significantly increased almost 1.8-fold higher breast cancer risk in Malaysian women overall. In addition, the variant Phe allele in STK15 rs2273535 SNP appeared to protect against breast cancer in Malaysian Chinese. No significance association was found between XRCC1 SNPs and breast cancer risk in the population. Conclusions: This study provides additional knowledge on CYP2E1, STK15 and XRCC1 SNP impact of risk of breast cancer, particularly in the Malaysian population. From our findings, we also recommend Malaysian women to perform breast cancer screening before 50 years of age.

• Journal of Animal Science and Technology
• /
• 제53권6호
• /
• pp.511-516
• /
• 2011

Fas gene known to associate with intramuscular fat content in Korean cattle was selected for DNA marker development. Fas (APO-1, CD95), a member of the tumor necrosis factor (TNF) receptor superfamily, is a cell membrane protein that mediates apoptosis (programmed cell death). We discovered single nucleotide polymorphisms (SNPs) within Fas gene in order to develop novel DNA markers at genomic level. Of this gene to search for SNP, sequences of whole exon and 1kb range of both front and back of the gene using 24 cattle were determined by direct-sequencing methods. As a result, 16 SNPs in exon, 37 SNPs in intron and 2 SNPs in promoter region, a total of 55 SNPs were discovered. In these SNPs, thirty-one common polymorphic sites were selected considering their allele frequencies, haplotype-tagging status and Linkage Disequilibrium (LD) for genotyping in larger-scale subjects. Selected SNPs were confirmed genotype through SNaPshot method (n=274) and were examined for possible genetic association of Fas polymorphisms with carcass weight (CWT), eye muscle area (EMA), and backfat thickness (BF). So, the SNP have been identified significant g.-12T>G, g.1112T>G and g.32548T>C. These results suggest that polymorphism of Fas gene was associated with meat quality traits in Hanwoo.

• 한국수정란이식학회지
• /
• 제31권3호
• /
• pp.235-242
• /
• 2016

This study tested the association between genotypes of the single nucleotide polymorphism (SNP) marker, rs81437607 and capric acid (FA_C10_0) compositions in longissimus dorsi muscle in pigs. Eighteen fatty acid (FA) compositions were measured in a total of 974 $F_2$ animals among 1,106 $F_2$ progeny produced between Landrace and Jeju Black Pig (JBP). Among FA compositions tested, we identified a cluster of highly significant SNPs for capric acid compositions on 58 Mb position of Sus scrofa chromosome 12 (SSC12) using genome-wide association study (GWAS) with $F_2$ genotypes from SNP panel analysis. GWAS results showed that the rs81437607 was the highest trait-related SNP marker with capric acid levels. Three genotypes (C/C, C/T and T/T) of rs81437607 marker were found in $F_2$ population by further pyrosequencing. Association analysis results showed the significant differences between rs81437607 genotypes and capric acid compositions (P<0.05). The $F_2$ pigs harboring rs81437607 C/C ($0.119{\pm}0.002%$) and C/T ($0.116{\pm}0.002%$) genotypes showed additively higher levels of capric acid content than those of T/T homozygotes ($0.109{\pm}0.002%$) ($P=1.30{\times}10^{-12}$). These results suggested that the genetic variations of rs81437607 may be helpful to find causative variants and assist as molecular genetic markers for improving the capric acid contents in longissimus dorsi muscle in pigs.

• Childhood Kidney Diseases
• /
• 제14권1호
• /
• pp.51-61
• /
• 2010

목 적 : 최근 Chemokine (C-C motif) ligand-2 (CCL-2; also known as MCP-1)와 CCL-5 (also known as RANTES)가 다양한 염증성 및 비염증성 신질환과 연관성을 보인다는 연구결과들이 보고되고 있다. 이에 본 저자들은 CCL-2 및 CCL-5 유전자의 단일염기다형성(single nucleotide polymorphism; SNP)가 소아 IgA 신병증의 발생 및 임상양상과 어떠한 연관성을 보이는지 알아보기 위하여 본 연구를 시행하였다. 방 법 : 경희의료원 소아청소년과에서 학교 검뇨상 이상소견을 보여 전원된 환아 중 신생검을 통해 IgA 신병증으로 확진된 196명의 소아환아와 285명의 건강한 대조군을 대상으로 geneotyping을 통해 6 개의 SNP 대립 유전자 빈도를 조사하여 분석하였다. 또한, 단백뇨(>4 mg/$m^2$/hour), 병리 소견 상 족세포의 족돌기 융합과 병리학적 진행성 병변의 유무에 따라 환자군을 다시 세 개의 하위그룹으로 세분화하여 비교하였다. 결 과 : IgA 신병증 환아 및 대조군의 SNP 대립 유전자 빈도를 분석하였을 때, CCL-2 및 CCL-5 유전자 모두에서 질환의 발생과 연관성을 보이는 SNP는 발견되지 않았다. 두 개의 linkage disequilibrium block이 형성되었으나 하플로타입 분석에서는 유의한 하플로타입을 찾을 수 없었다. 또한, 환자의 하위그룹을 비교하였을 때에도 단백뇨, 병리 소견 상 족세포의 족돌기 융합과 병리학적 진행성 병변과 연관성을 보이는 SNP는 발견되지 않았다. 결 론 : 한국 소아 환자를 대상으로 시행한 본 연구에서 CCL-2 및 CCL-5유전자 다형성과 IgA 신병증의 임상병리 양상 간에 유의한 연관성은 없었다.