• Asian Pacific Journal of Cancer Prevention
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• 제15권18호
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• pp.7763-7768
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• 2014

Background: Gastritis and gastric cancer are the most common diseases in the Kazakh population. Polymorphisms in genes coding of cytokines have been played important role with gastric disease risk. The risk alleles of cytokines in patients with gastritis can predict the risk of developing gastric cancer. The aim of this study was to investigate cytokine gene polymorphisms as risk factors for the development of gastritis in a case-control study with gastritis patients and healthy individuals from the Kazakh ethnic group, living in North Kazakhstan. Materials and Methods: The polymerase chain reaction followed by direct sequencing were used for detection of two functional polymorphisms in the IL1 gene family, and TaqMan SNP Genotyping Assay Sets were applied for three potentially functional polymorphisms in the IL10 gene, and one in the TNFA promoter. Results: Association analysis of studied allelic variants and the development of gastritis in H. pylori-positive patients showed that IL1B -31C/C, IL1B -511T/T and IL1RN -2/2 allelic variants were associated with development of gastritis (OR=1.8 (1.07-3.16), p=0.025; OR=1.7 (1.04-2.99), p=0.035, and OR=4.92 (2.45-9.85), p<0.001) respectively. Haplotype C-Т that combines both homozygous allelic variants of IL1B gene also had a statistically significant association with slightly higher OR (OR: 1.43, 95% CI: 1.08-1.88). Conclusions: The data from the current study showed that the genotype IL-1B -511Т/-31C-IL1-RN-2 and H. pylori infection increase risk of gastritis in the Kazakh population. That genotype combination might be a factor increasing the risk of developing gastric cancer.

• Journal of Microbiology and Biotechnology
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• 제21권10호
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• pp.1001-1011
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• 2011

To explore bacterial diversity for elucidating genetic variability in acylhomoserine lactone (AHL) lactonase structure, we screened 800 bacterial strains. It revealed the presence of a quorum quenching (QQ) AHL-lactonase gene (aiiA) in 42 strains. These 42 strains were identified using rrs (16S rDNA) sequencing as Bacillus strains, predominantly B. cereus. An in silico restriction endonuclease (RE) digestion of 22 AHL lactonase gene (aiiA) sequences (from NCBI database) belonging to 9 different genera, along with 42 aiiA gene sequences from different Bacillus spp. (isolated here) with 14 type II REs, revealed distinct patterns of fragments (nucleotide length and order) with four REs; AluI, DpnII, RsaI, and Tru9I. Our study reflects on the biodiversity of aiiA among Bacillus species. Bacillus sp. strain MBG11 with polymorphism (115Alanine > Valine) may confer increased stability to AHL lactonase, and can be a potential candidate for heterologous expression and mass production. Microbes with ability to produce AHL-lactonases degrade quorum sensing signals such as AHL by opening of the lactone ring. The naturally occurring diversity of QQ molecules provides opportunities to use them for preventing bacterial infections, spoilage of food, and bioremediation.

• 생물정신의학
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• 제25권4호
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• pp.101-109
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• 2018

Objectives According to previous studies, the Chromogranin B (CHGB) gene could be an important candidate gene for schizophrenia which is located on chromosome 20p12.3. Some studies have linked the polymorphism in CHGB gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. Methods We measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. Results The natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was $4.19{\pm}0.19$ and that of poor SPEM function group was $3.17{\pm}0.65$. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). Conclusions Despite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.nwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. MethodsZZWe measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. ResultsZZThe natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was $4.19{\pm}0.19$ and that of poor SPEM function group was $3.17{\pm}0.65$. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). ConclusionsZZDespite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.

• 한국임상수의학회지
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• 제26권2호
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• pp.123-129
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• 2009

동맥관 개존증(PDA)은 동맥관의 불완전한 폐쇄로 인해 하행 대동맥과 폐동맥 사이에 비정상적인 단락이 형성된 것이다. 최근 인간의 유전자 연구에서 전사인자 AP-2 beta(TFAP2B)의 유전자 변이가 PDA 증후적 사례를 초래함을 발견하였다. TFAP2B 유전자의 변이는 사람의 PDA와 같은 특정 선천성 심장 기형과 관련되어 있다. 본 연구에서는 PDA에 이환된 개의 유전자 스크리닝을 하기 위해 개 TFAP2B유전자의 전체 exon 부위를 분리하였다. 개 TFAP2B유전자는 사람의 TFAP2B와 아미노산 서열이 매우 유사하였다. PDA에 이환된 말티즈견의 TFAP2B유전자 스크리닝에서 단일 c.936+203G>A 염기 변화가 발견되었다. 그러나 대조군의 유전자 스크리닝에서도 동일한 염기 변화가 발견되었다. 이 염기의 변화는 인트론 지역에 위치해 있었으며 이환되지 않은 대조군 개에서 발견된 것으로 보아 TFAP2B는 말티즈 견의 유전성 PDA와 다른 종의 PDA 환자를 초래하지 않을 것으로 보인다. 향후 더 많은 샘플을 모으고 PDA에 이환된 다양한 종과 다른 선천성 심장 기형을 가진 환축에서 TFAP2B를 스크리닝하는 연구가 필요하다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권16호
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• pp.6855-6861
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• 2014

Background: Previous epidemiological studies have suggested a potential role of the $HSPA1B{\pm}1267A/G$ polymorphism in risk of developing cancer. However, the results were inconsistent. Therefore, we performed this meta-analysis to summarize the possible association with cancer risk. Materials and Methods: We retrieved relevant articles from PubMed, EMBASE, ISI Web of Science, Chinese Biomedical Literature and Chinese National Knowledge Infrastructure. Studies were selected using specific criteria. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess those associations. All analyses were performed using STATA software. Results: Fourteen case-control studies, including 1, 834 cancer cases and 2, 028 controls were included in this meta-analysis. Overall, the results indicated that the G allele of HSPA1B gene ${\pm}1267A/G$ was significantly associated with an increased cancer risk in all genetic models (G vs A: OR=1.51, 95%CI 1.17-1.95, p=0.001; GG vs AA: OR=2.93, 95%CI 1.50-5.74, p=0.002; AG vs AA: OR=1.48, 95%CI 1.10-1.98, p=0.009; GG/AG vs AA: OR=1.69, 95%CI 1.22-2.33, p=0.001; GG vs AG/AA: OR=2.31, 95%CI 1.24-4.32, p=0.009). In the subgroup analysis stratified by ethnicity, a significant association was identified in Caucasians (G vs A: OR=1.35, 95%CI 1.08-1.69, p=0.008; GG/AG vs AA: OR=1.36, 95%CI 1.09-1.70, p=0.007), but not in Asians. In the stratified analysis by cancer types, individuals with the G allele showed an increased risk of hepatocellular carcinoma compared with carriers of the A allele (OR=2.40, 95%CI 1.47-3.91, p<0.001). Inversely, individuals with the GG genotype showed a decreased risk of gastric cancer compared with carriers of the AG/GG genotypes (GG vs AG/AA: OR=0.39, 95%CI 0.20-0.70, p=0.007). Conclusions: This meta-analysis suggests associations between the HSPA1B ${\pm}1267A/G$ polymorphism and risk of cancer. However, this association might be Caucasian-specific and the G allele of this polymorphism probably increases risk of hepatocellular carcinoma while decreasing risk of gastric cancer. Further well-designed studies based on larger sample sizes are needed to validate these findings.

• 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.

• Childhood Kidney Diseases
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• 제9권2호
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• pp.183-192
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• 2005

목 적 : 소아 HSPN의 임상 경과와 이에 영향을 미치는 예후 인자를 조사하였다. 방 법 : 소아 HSPN 환자 75명(남아 44명, 여아 31명)을 대상으로 하였으며 발병연령은 $8.0{\pm}3.1$세(2.3-l5.3세)였고 추적관찰 기간은 $4.3{\pm}3.6$년(1.0-17.1년)이었다. 신생검은 24명(32$\%$)에서 시행되었다. 발병시 임상 양상과 검사 결과를 조사하였으며, 대상 환자들의 RAS 유전자의 다형성(ACE 유전자의 I/D 다형성, AGT 유전자의 M235T 다형성, AGTR 유전자의 A1166C 다형성)에 대해 검사하였다. 발병시와 마지막 추적관찰시 임상 상태는 다음과 같이 4군으로 분류하였다: A, 정상; B, 정도의 소변이상; C, 활동성 신질환(신증후군 범위의 단백뇨) 또는 고혈압 소견을 보이면서 혈청 크레아티닌 1.5 mg/dL 이하; D, 신부전. 결 과 : 발병시 환자들의 임상 상태는 26명(35$\%$)이 B, 45명(51$\%$)이 C였고 D가 3명(4$\%$)이었다. RAS 유전자 다형성의 분포는 100명의 건강한 대조군과 다르지 않았다. 마지막 추적관찰시 환자들의 임상 상태는 A가 23명(31$\%$), B가 38명(50$\%$), C가 9명(12$\%$), D가 5명(7$\%$)이었다. Multiple logistic regression 결과 발병 연령과 발병시 단백뇨의 양이 유의한 예후 인자로 확인되었다. RAS 유전자는 HSPN의 예후 인자로 통계학적 유의성이 없었다. 결 론 : 본 연구에서는 발병 연령이 높을수록, 발병시 단백뇨의 양이 많을수록 소아 HSPN의 예후가 나쁜 것으로 나타났고 RAS 유전자는 HSPN의 예후와 상관 관계가 없었다. 더 정확한 연구를 위해서는 더 많은 수의 환자를 대상으로 전향적인 연구가 필요하리라 생각한다.

• Asian-Australasian Journal of Animal Sciences
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• 제19권5호
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• pp.627-631
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• 2006

The objective of this study was to evaluate the association of genetic differences in the bovine leptin gene and milk yield, reproduction, body condition score (BCS), and plasma glucose level in Iranian Holstein cows. In total, two hundred and thirty eight cows were used and genotyped for a restricted fragment length polymorphism at the leptin gene locus. Two genotypes, AA and AB, have been distinguished which have the frequencies of 0.89 and 0.11, respectively. The genotypes were distributed according to the Hardy - Weinberg equilibrium ($x^2$ = 0.733). During the first 12 wk of lactation, milk yield and composition, live weight, BCS and plasma glucose were measured in 50 cows. Data were analyzed based on a repeated measures ANOVA. During this period, milk yield and composition, live weight, BCS and plasma glucose level were similar among the genotypes. The first cumulative 60-d milk yield, 305-d milk yield, days to first breeding, days open and days from first breeding to conception using previous lactation records were also analyzed using Standard Least Square within mixed models. Fixed effects were year, season, parity and age at calving, and sire. For the reproductive traits the cumulative first 60-d milk yield was also added to the model. Animal was fitted as a random effect. A significant association was detected between the RFLP-AB genotype and 305-d milk yield (p<0.05). The first 60-d cumulative milk yield was similar for the two genotypes (p = 0.21) and tended to be higher in the heterozygous cows. The heterozygous genotypes at the above mentioned locus had a trend to better reproductive performance than the homozygous. The results demonstrate that the RFLP B-allele can yield a higher 305-d milk production with a trend to better reproductive performance.

• Asian-Australasian Journal of Animal Sciences
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• 제27권10호
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• pp.1487-1492
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• 2014

This research applied and evaluated a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using cytochrome b gene to detect pork contamination in meatballs from local markets in Surabaya and Yogyakarta regions, Indonesia. To confirm the effectiveness and specificity of this fragment, thirty nine DNA samples from different meatball shops were isolated and amplified, and then the PCR amplicon was digested by BseDI restriction enzyme to detect the presence of pork in meatballs. BseDI restriction enzyme was able to cleave porcine cytochrome b gene into two fragments (131 bp and 228 bp). Testing the meatballs from the local market showed that nine of twenty meatball shops in Yogyakarta region were detected to have pork contamination, but there was no pork contamination in meatball shops in Surabaya region. In conclusion, specific PCR amplification of cytochrome b gen and cleaved by BseDI restriction enzymes seems to be a powerful technique for the identification of pork presence in meatball because of its simplicity, specificity and sensitivity. Furthermore, pork contamination intended for commercial products of sausage, nugget, steak and meat burger can be checked. The procedure is also much cheaper than other methods based on PCR, immunodiffusion and other techniques that need expensive equipment.

• Asian-Australasian Journal of Animal Sciences
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• 제24권7호
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• pp.898-904
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• 2011

The PCR- restriction fragment length polymorphism (RFLP) in and around TM4 of SLC11A1 gene and its association with the incidences of brucellosis in Hariana breed (Bos indicus) and Holstein Friesian crossbred (Bos indicus${\times}$Bos taurus) cattle was examined. A fragment of 954 bp encoding the TM4 was amplified, and RFLP was identified by digestion of the amplicon independently with AluI and TaqI. The amplicon (GenBank Acc. No. AY338470 and AY338471) comprised of a part of exon V (<59 bp) and VII (62>), and entire intron 5 (423 bp), exon VI (71 bp) and intron 6 (339 bp). Digestion with AluI revealed the presence of two alleles viz, A (281, 255, 79 and 51 bp) and B (541, 255, 79 and 51 bp). The frequency of A allele was estimated as 0.80 and 0.73 in Hariana and crossbred cattle, respectively. Due to presence of a polymorphic TaqI site at intron 5, two alleles: T (552 and 402 bp) and Q (231, 321 and 402 bp) were identified. The frequency of T allele was estimated as 0.96 and 0.97, respectively. For association study, on the basis of serological tests and history of abortion, the animals were grouped into "affected" and "non-affected". However, no association could be established with the observed RFLPs.