• 한국환경독성학회:학술대회논문집
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• 한국환경독성학회 2003년도 춘계학술대회
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• pp.177-177
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• 2003

Adult periodontitis is a chronic inflammatory disease whose etiology is not well defined. Recent studies have shown that vitamin D receptor gene has been a candidate for the susceptibility of adult periodontitis. The purpose of this study is to investigate the frequency of Taq I restriction fragment length polymorphism (RELP) in the vitamin D receptor gene in 141 periodontically healthy controls and 32 adult periodontitis patients. Taq I RFLP in the vitamin D receptor gene were detected by PCR amplification, followed by restriction enzyme digestion and 2% agarose gel electrophoresis. There were no significant difference in the distribution of Taq I RFLP between healthy controls and adult periodontitis group (P > 0.05). Thus, Taq I RFLP in the vitamin D receptor gene may not confer the susceptibility to adult periodontitis in Korean population. However, t allele distributions of this RFLP showed various frequencies among ethnic groups studied. Further studies in other ethnic groups will be required.

• Asian-Australasian Journal of Animal Sciences
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• 제28권9호
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• pp.1235-1243
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• 2015

The goat Capra hircus is one of several economically important livestock in China. Advances in molecular genetics have led to the identification of several single nucleotide variation markers associated with genes affecting economic traits. Validation of single nucleotide variations in a whole-transcriptome sequencing is critical for understanding the information of molecular genetics. In this paper, we aim to develop a large amount of convinced single nucleotide polymorphisms (SNPs) for Cashmere goat through transcriptome sequencing. In this study, the transcriptomes of Cashmere goat skin at four stages were measured using RNA-sequencing and 90% to 92% unique-mapped-reads were obtained from total-mapped-reads. A total of 56,231 putative SNPs distributed among 10,057 genes were identified. The average minor allele frequency of total SNPs was 18%. GO and KEGG pathway analysis were conducted to analyze the genes containing SNPs. Our follow up biological validation revealed that 64% of SNPs were true SNPs. Our results show that RNA-sequencing is a fast and efficient method for identification of a large number of SNPs. This work provides significant genetic resources for further research on Cashmere goats, especially for the high density linkage map construction and genome-wide association studies.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2199-2202
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• 2015

The aim of the present study was to determine whether endothelial nitric oxide synthase (eNOS) gene polymorphisms play a role in development of bladder cancer in the Turkish population. The study was performed on 75 patients (64 men, 11 women) with bladder cancer and 143 healthy individuals (107 men, 36 women) with any kind of cancer history. Three eNOS gene polymorphisms (T-786C promoter region, G894T and intron 4 VNTR 4a/b) were determined with polymerase chain reaction and restriction fragment lenght polymorphism methods. In our study, GT and TT genotypes for eNOS G894T polymorphism were found to significantly vary among patients with bladder cancer and control group (OR: 0.185, CI: 0.078-0.439, p=0.0001 and OR: 0.324, CI: 0.106-0.990, p=0.026). Also, the frequency of the 894T allele was significantly higher in patients with bladder cancer (51%). No association was identified for eNOS T-786C and intron 4 VNTR 4a/b polymorphisms between patients with bladder cancer and control groups in our Turkish population.

• Journal of Oral Medicine and Pain
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• 제22권2호
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• pp.253-260
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• 1997

한국인 집단에서 개인식별의 기초자료로 활용하고자 한국인 201명을 대상으로 STR 유전좌위 중 하나인 LPL 유전좌위의 유전자 빈도 및 유전자형 분포를 구하였다. 혈액으로부터 추출한 핵 DNA를 중합효소연쇄반응으로 증폭시키고 폴리아크릴아마이드 겔 상에서 전기영동하여 은염색한 후 관찰하여 다음의 결과를 얻었다. 1. 한국인 집단 201명의 LPL 유전자에서 5개의 대립유전자, 7개의 유전자형을 검출하였으며, 이형접합도는 50.7%로 나타났고 대립 유전자다양성 (allelic diversity value)은 0.454, 개 인식 별력 (PD)은 0.674를 보였다. 2. 대립 유전자 및 유전자빈도는 9, 10, 11, 12, 13 대립 유전자에서 각각 0.020, 0.714, 0.100, 0.164, 0.002로 나타났으며, 대립유전자 7, 8, 14는 관찰되지 않았다. 이상의 결과를 볼 때 한국인 집단에서 STR LPL유전좌위의 유전자빈도는 친자감정 등 개인식별에 유용하게 사용할 수 있으나 감정실무에 응용시 다수의 STR유전좌위 및 VNTR유전좌위의 분석을 병행하여야 할 것으로 사료된다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권2호
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• pp.485-488
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• 2015

Background: Oxidative stress caused by the generation of reactive oxygen species plays an important role in human carcinogenesis. Manganese superoxide dismutase (MnSOD) Val-9Ala in the mitochondrial target sequence is the best known polymorphism of this enzyme. The purpose of the current research was to assess the association of MnSOD Val-9Ala genotypes with the risk of gastric cancer. Materials and Methods: This case-control study covered 54 gastric cancer patients compared to 100 cancer free subjects as controls. Extraction of DNA was performed on bioptic samples and genotypes were identified with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: The frequencies of MnSOD Ala/Ala, Ala/Val and Val/Val genotypes in healthy individuals were 24.3, 66.7 and 9%, respectively. However, in gastric cancer patients, Ala/Ala, Ala/Val and Val/Val were observed in 24.0, 48.0 and 28.0% (p=0.01). In patients the frequency of MnSOD Val allele was higher (52%) compared to that in controls (42%). Conclusions: The results of this study show a positive association between MnSOD Val-9Ala gene polymorphism and risk of gastric cancer disease in Iranian population.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제19권1호
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• pp.19-27
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• 2008

Objectives : The aim of this study was to examine the association of attention-deficit hyperactivity disorder (ADHD) in Korean populations with functional polymorphisms of six genes dopamine receptors (Ser311/Cys311 polymorphism, Taq1 A polymorphism, and Taq1 B polymorphism in DRD2, BalI polymorphism in DRD3, and promoter -521 C/T polymorphism and exon III 48 bp repeat polymorphism in DRD4) and one gene in dopamine transporter (DAT1). Methods : Participants were 58 children with ADHD and 110 control children. The genotypes were determined by PCR. Results : There was a statistically significant difference in genotype frequency of -521 C/T polymorphism within the promoter region of the DRD4 between two groups. Furthermore, in the male group, both genotype and allele frequencies showed statistically significant differences. Conclusion : Findings of the study indicate that -521 C/T polymorphism in promoter region of DRD4 appears to be a possible candidate gene for ADHD in Korean population.

• Asian Pacific Journal of Cancer Prevention
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• 제17권9호
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• pp.4391-4394
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• 2016

Background: Platinum-based regimens are effective treatments for advanced non-small cell lung cancer (NSCLC), but the five-year survival rate is still less than 20%. One possible factor appears to be resistance involving polymorphisms in the CTR1 gene which plays an importance role in accumulation of platinum in the cytoplasm. Purpose: To establish both prevalence of CTR1 polymorphism and its impact on treatment related toxicity in Thai advanced NSCLC patients. Materials and Methods: Thirty-two advanced NSCLC participants received carboplatin and gemcitabine during January to June 2016 at King Chulalongkorn Memorial Hospital (KCMH) were recruited for analysis of the CTR1 rs12686377 genotype. These participants were planning to be treated with platinum-based chemotherapy for at least two cycles. Results: Allele frequency of CTR1 polymorphism $G{\rightarrow}T$ was found to be 25%. The results showed that genetic polymorphism at CTR1 rs12686377 was associated with emesis side effects (P = 0.020) and neuropathic symptoms (P = 0.010). In addition, hematologic side effects in terms of anemia also tended to be related to this polymorphism. Conclusions: This is the first study suggesting that polymorphism at CTR1 rs12686377 may be associated with toxicity from platinum-based regimens. Therefore, it could be a factor to aid in treatment decision-making.

• 한국약용작물학회지
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• 제21권3호
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• pp.220-228
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• 2013

This study was conducted to assess the genetic diversity and population structure of 70 amaranth accessions collected from South and Southeast Asia using 14 simple sequence repeat (SSR) markers. In total, 67 alleles were detected, with an average of 4.79 per locus. Rare alleles comprised a large portion (46.3%) of the detected alleles, and 29 unique alleles associated with rice accessions were also discovered. The mean major allele frequency (MAF), genetic diversity (GD) and polymorphic information content (PIC) of the 14 SSR loci were 0.77, 0.36, and 0.34, respectively. A model-based structural analysis revealed the presence of three subpopulations. The genetic relationships revealed by the neighbor-joining tree method were fairly consistent with the structure-based membership assignments for most of the accessions. All 70 accessions showed a clear relationship to each cluster without any admixtures. We observed a relatively low extent of genetic exchange within or among amaranth species from South and Southeast Asia. The genetic diversity results could be used to identify amaranth germplasms and so facilitate their use for crop improvement.

• Journal of Genetic Medicine
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• 제3권1호
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• pp.11-13
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• 1999

Recently it was reported that Insertion/Deletion polymorphism in the gene coding for Angiotensin-Converting Enzyme (ACE) is associated with human capacity for physical performance. This study was performed to genotyping of the ACE gene to determine the correlation between elite endurance performance and ACE I/D gene polymorphism. DNA sample was obtained from peripheral blood, hair roots and mouth epithelial cell in 739 general population and 200 elite athletic performance students. The ACE gene was amplified by polymerase chain reaction (PCR) using allele specific oligonucleotide primers. 155, 525 bp and 237 bp PCR products indicating the presence of insertion(I) and deletion(D) alleles, respectively, were clearly resolved after electrophoresis on a 2% agarose gel with ethidium bromide. Of the 200 elite athletic performance population subjects, 68(34%) showed ACE genotype 11,100(50%) genotype ID and 32(16%) genotype DD. Of the 739 general population subjects, 259(35.1%) showed ACE genotype 11,363(49.1%) genotype ID and 117(15.8%) genotype DD. Therefore ACE I/D gene polymorphism was not associated with human capacity for physical performance.(p>0.05)

• Asian Pacific Journal of Cancer Prevention
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• 제17권6호
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• pp.2861-2866
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• 2016

It is thought that population characteristics of breast cancer may be due to a variation in the frequency of different alleles of genes such as CYP1B1. We aimed to determine the association of CYP1B1 polymorphisms in 200 breast cancer cases and 40 controls by PCR-RFLP. Frequencies were assessed with clinical and risk factors in Egyptian patients. The genotype LV and the Leu allele frequencies for patients and controls were 42.9% and 50%, and 52.9% and 53.3%, respectively), with no significant differences observed (P values = 0.8 and 0.6, respectively). There was also no significant association between genotypes and any risk factors for cases (P>0.05) except laterality and metastasis of the tumor (P values=0.006 and 0.06, respectively). The CYP1B1 polymorphism Val432Leu was not associated with breast cancer in Egypt, but may provide clues for future studies into early detection of the disease.