• Asian Pacific Journal of Cancer Prevention
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• 제16권18호
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• pp.8227-8233
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• 2016

Background: To investigate polymorphisms in heat shock proteins A1B and A1L (HOM) and associated risk of oesophageal carcinoma in Northeast India. Materials and Methods: The study includes oesophageal cancer (ECA) patients attending general outpatient department (OPD) and endoscopic unit of Gauhati Medical College. Patients were diagnosed based on endoscopic and histopathological findings. Genomic DNA was typed for HSPA1B1267 and HSPA1L2437 SNPs using the polymerase chain reaction with restriction fragment length polymorphisms. Results: A total of 78 cases and 100 age-sex matched healthy controls were included in the study with a male: female ratio of 5:3 and a mean age of $61.4{\pm}8.5years$. Clinico-pathological evaluation showed 84% had squamous cell carcinoma and 16% were adenocarcinoma. Dysphagia grades 4 (43.5%) and 5 (37.1%) were observed by endoscopic and hispathological evaluation. The frequency of genomic variation of A1B from wild type A/A to heterozygous A/G and mutant G/G showed a positive association [chi sq=19.9, p=<0.05] and the allelic frequency also showed a significant correlation [chi sq=10.3, with cases vs. controls, OR=0.32, $p{\leq}0.05$]. The genomic variation of A1L from wild T/T to heterozygous T/C and mutant C/C were found positively associated [chi sq=7.02, p<0.05] with development of ECA. While analyzing the allelic frequency, there was no significant association [chi sq=3.19, OR=0.49, p=0.07]. Among all the risk factors, betel quid [OR=9.79, Chi square=35.0, p<0.05], tobacco [OR=2.95, chi square=10.6, p<0.05], smoking [OR=3.23, chi square=10.1, p<0.05] demonstrated significant differences between consumers vs. non consumers regarding EC development. Alcohol did not show any significant association [OR=1.34, chi square=0.69, p=0.4] independently. Conclusions: It can be concluded that the present study provides marked evidence that polymorphisms of HSP70 A1B and HSP70 A1L genes are associated with the development of ECA in a population in Northeast India, A1B having a stronger influence. Betel quid consumption was found to be a highly significant risk factor, followed by smoking and tobacco chewing. Although alcohol was not a potent risk factor independently, alcohol consumption along with tobacco, smoking and betel nut was found to contribute to development of ECA.

• 한국가금학회지
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• 제35권2호
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• pp.163-169
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• 2008

본 연구는 한국재래닭의 1번 염색체내 존재하는 17개의 MS(microsatellite) marker를 이용하여 경제형질과 관련하여 유의적인 연관성을 가진 지역을 탐색하기 위하여 실시하였다. 1번 염색체내 경제형질과의 유의적인 연관성을 가진 지역을 탐색하기 위하여 분석된 17개의 MS marker를 대상으로 각 marker별 대립 유전자의 최다 출현 빈도를 지닌 두 개의 대립 유전자를 선발하였다. 선발된 각각의 대립 유전자는 각 경제형질별 성적을 바탕으로 고능력 집단과 저능력 집단으로 나누었으며, 두 집단간의 Chi-squire 검정을 통해 경제형질과의 연관성을 확인하였다. 분석된 결과에 따르면 난중의 경우 94 cM에 위치한 MCW0106, 1개의 지역에서 유의적인 연관성이 탐색되었다. 시산일령의 경우, 3개의 지역(ADL0234, UMA 1.125, ADL0101)에서 유의적인 연관성이 탐색되었고, 체중의 경우 6개의 지역(UMA1.117, ADL0020, UMA1.019, LAMP1, ADL0101, ADL0238)에서 유의적인 연관성이 탐색되었으며, 마지막으로 산란수의 경우 2개의 지역(ADL0101, ADL0238)에서 유의적인 연관성을 확인하였다. ADL0101는 시산일령, 체중 그리고 산란수에서의 유의적인 연관성이 확인되었으며, 산란수에서는 두개의 대립 유전자(174, 178) 모두에서 유의적인 연관성이 탐색되었음을 확인하였다.

• 한국산림과학회지
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• 제79권4호
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• pp.424-430
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• 1990

소나무, 잡종(雜種)소나무 및 곰솔의 수지구지수(樹脂溝指數)의 변화(變化)에 따라 침엽(針葉), 구과(毬果) 및 종자(種子)의 형태적(形態的) 특성(特性)과 동위효소(同位酵素) ADH, ME, PGI의 대립유전자빈도(對立遺傳子頻度)의 변이(變異)를 조사(調査)한바 다음과 같다. 1. 수지구지수(樹脂溝指數)가 증가(增加)암에 따라 침엽(針葉)의 길이, 엽초장, 구과(毬果)의 크기, 종자(種子)의 크기, 종자(種子)날개의 크기, 종자(種子) 1000립중(粒重)은 증가(增加)하고 침엽(針葉)의 기공열수(氣孔列數)는 감소하는 경향을 나타내고 있다. 2. 침엽(針葉), 구과(毬果) 및 종자(種子)의 형태적(形態的) 특성(特性)을 판별분석(判別分析) 결과(結果) 수지구지수(樹脂溝指數)와 대채로 일치(一致)하는 경향을 보이고 있으나 개체(個體) 따라 일치(一致)하지 않는 개체(個體)도 있다. 소나무 및 잡종(雜種)소나무에서는 10-25% 정도는 일치(一致)하지 않았고 곰솔에서는 거의 일치(一致)하였다. 3. 각(各) 형태적(形態的) 특성(特性)에 의한 정준판별함수(正準判別函數)의 결과 소나무, 이입교잡종(移入交雜種), 잡종(雜種)소나무, 곰솔의 양적형질중(量的形質中) 수지구지수(樹脂溝指數), 종자(種子)의 1000립중(粒重), 구과(毬果)의 크기 및 엽초장이 각수종(各樹種)의 특성(特性)을 가장 잘 나타내고 있다. 4. 수지구지수(樹脂溝指數)가 증가(增加)함에 따라 잡종도지수(雜種度指數)도 증가(增加)하는 경향을 나타내고 잡종도지수(雜種度指數)와 판별분석(判別分析)의 결과(結果)는 거의 같은 경향을 나타내고 있다. 5. 수지구지수(樹脂溝指數) 증가(增加)함에 따라 동위효소(同位酵素) ADH-$B_2$, ME-$A_2$, 및 PGI-$B_1$, $B_2$ 대립유전자(對立遺傳子)의 빈도(頻度)는 증가(增加)하고 ADH-$B_3$, ME-$A_4$, PGI-$B_3$는 감소하는 경향을 나타내고 있다. ADH-$B_2$, ME-$A_2$ 및 PGI-$B_1$, $B_2$의 인자(因子)는 곰솔에서 소나무로 유입(流入)된 것으로 간주되며 이러한 인자(因子)가 유입(流入)됨에 따라 ADH-$B_3$, ME-$A_4$, 및 PGI-$B_3$는 감소하는 것으로 생각된다.

• BMB Reports
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• 제49권2호
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• pp.71-72
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• 2016

Focal cortical dysplasia type II (FCDII) is a focal malformation of the developing cerebral cortex and the major cause of intractable epilepsy. However, since the molecular genetic etiology of FCD has remained enigmatic, the effective therapeutic target for this condition has remained poorly understood. Our recent study on FCD utilizing various deep sequencing platforms identified somatic mutations in MTOR (existing as low as 1% allelic frequency) only in the affected brain tissues. We observed that these mutations induced hyperactivation of the mTOR kinase. In addition, focal cortical expression of mutant MTOR using in utero electroporation in mice, recapitulated the neuropathological features of FCDII, such as migration defect, cytomegalic neuron and spontaneous seizures. Furthermore, seizures and dysmorphic neurons were rescued by the administration of mTOR inhibitor, rapamycin. This study provides the first evidence that brain somatic activating mutations in MTOR cause FCD, and suggests the potential drug target for intractable epilepsy in FCD patients.

• Asian-Australasian Journal of Animal Sciences
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• 제19권8호
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• pp.1071-1078
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• 2006

Three buffalo populations viz. Bhadawari, Tarai and local buffaloes of Kerala were genotyped using 24 heterologous polymorphic microsatellite loci. A total of 140 alleles were observed with an average observed heterozygosity of 0.63. All the loci were neutral and 18 out of the 24 loci were in Hardy Weinberg Equilibrium. The $F_{IS}$ values (estimate of inbreeding) for 16 loci in all the three populations were negative. This indicated lack of population structure in the three populations. The effective number of immigrants was 5.88 per generation between the Tarai and Bhadawari populations which was quite high suggesting substantial gene flow. The genetic distances revealed closeness between the Tarai and Bhadawari populations which was expected from geographical contiguity. The FST values were not significantly different from zero showing no population differentiation. The Correspondence Analysis based on the allelic frequency data clustered the majority of the Tarai and Bhadawari individuals as an admixture.

• 한국수정란이식학회지
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• 제20권3호
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• pp.217-232
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• 2005

The objective of this study was to determine the response of QTL in each generation during selection to develop inbred lines. The simulation program was written in Fortran. Magnitude of QTL effects, base population size, number of QTL assigned to population, and the allelic frequency for the positive allele at each major QTL were highly associated with number of generations to fixation of QTLs during selection. Populations with larger QTL effects and larger base population size had more individuals with fixed QTL. However, a smaller number of QTL assigned to population had a higher fraction of individuals with fixed QTL at each generation compared with more populations with QTL. This simulation study will help to design biological experiments for detection of QTL-marker association using inbred population and to determine optimum number of lines with fixed QTL during inbred line development. To complement this study, additional simulation should be need with abundant replicates, more various population sizes, magnitude of QTL effects, and recombination between markers and QTLs.

• 대한임상검사과학회지
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• 제37권3호
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• pp.139-142
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• 2005

Most expressed HLA(human leukocyte antigen) loci exhibit a remarkable degree of allelic polymorphism, which is derived from sequenceing differences predominantly localized to discrete hypervariable regions of the amino-terminal domain of the molecule. In this study, the HLA-DRB1 genotypes were determined in twenty students using the PCR-SSP (polymerase chain reaction-sequence specific primer) technique. Two specific primer pairs in assigning the DRB1 gene were used. The results of PCR-SSP, the $HLA-DRB1^{\ast}0101$ primer detected nine and $HLA-DRB1^{\ast}1501$ primer detected three people. This study shows that the PCR-SSP technique is relatively simple, fast and a practical tool for the determination of the HLA-DRB1 genotypes. Moreover, these genotype frequency results of the HLA DRB1 gene could be useful for database study before being applied to individual identification and transplantation immunity.

• Genomics & Informatics
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• 제11권2호
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• pp.93-96
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• 2013

The prediction of externally visible characteristics from DNA has been studied for forensic genetics over the last few years. Externally visible characteristics include hair, skin, and eye color, height, and facial morphology, which have high heritability. Recent studies using genome-wide association analysis have identified genes and variations that correlate with human visible phenotypes and developed phenotype prediction programs. However, most prediction models were constructed and validated based on genotype and phenotype information on Europeans. Therefore, we need to validate prediction models in diverse ethnic populations. In this study, we selected potentially useful variations for forensic science that are associated with hair and eye color, iris pattern, and facial morphology, based on previous studies, and analyzed their frequencies in 1,920 Koreans. Among 20 single nucleotide polymorphisms (SNPs), 10 SNPs were polymorphic, 6 SNPs were very rare (minor allele frequency < 0.005), and 4 SNPs were monomorphic in the Korean population. Even though the usability of these SNPs should be verified by an association study in Koreans, this study provides 10 potential SNP markers for forensic science for externally visible characteristics in the Korean population.

• Journal of Gastric Cancer
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• 제3권4호
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• pp.214-220
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• 2003

Purpose: The aim of this study was to investigate the frequency of loss of heterozygosity and the microsatellite instability at multiple tumor suppressor gene loci in gastric adenocarcinomas. Materials and Methods: Loss of heterozygosity and the microsatellite instability at several tumor suppressor gene loci were analyzed in 29 primary gastric carcinomas by using microdissection and the polymerase chain reaction. Results: Twenty-three ($79\%$) of the 29 cases demonstrated loss of heterozygosity at one or more loci. The frequency of loss of heterozygosity at the p53 locus was the highest ($63\%$) and those at the VHL, APC, p16, Rb, MEN1, BRCA1, DPC4, 3p21, and 16p13 region were $41\%,\;36\%,\;19\%,\;29\%,\;33\%,\;26\%,\;21\%,\;32\%,\;and\;11\%$, respectively. Compared with histological type, loss of heterozygosity was more common in diffuse-type gastric cancer (P<0.01). Interestingly, 9 of 10 tumors with allelic deletion at the p53 locus showed loss of heterozygosity at other tumor suppressor gene loci. The microsatellite instability was also detected in 6 ($20\%$) of the 29 cases at one or more loci. Conclusion: These data suggest that frequent loss of heterozygosity and the microsatellite instability at multiple tumor suppressor genes might be required for the development and the progression of gastric carcinomas and that p53 allelic loss may be the most frequent event in the development of gastric carcinomas.

• 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.