• Journal of Korean Society of Occupational and Environmental Hygiene
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• v.16 no.2
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• pp.152-160
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• 2006

Genotype of ALAD and VDR yields two alleles, respectively and it has been implicated in susceptibility to lead toxicity. Also genotype known to variety by race. To evaluate the genetic susceptibility of ALAD and VDR gene on health effect of lead exposure, this study was done with new workers who entered lead industries from 1992 to 2001. Among database of lead industries of Soonchunhyang University Institute of Industrial Medicine, only new workers were selected for this study. The total of eligible workers for this category was 3,540 workers including non lead exposed workers of same lead industries. Genotype of ALAD and VDR were measured from stored blood in specimen bank of Soonchunhyang University, blood lead and other relevant information were obtained from database of each workers which were gathered at their first year of employment. Among 3,540 new employed study subjects during period of 1992-2001, 3204 workers(90.5%) had ALAD genotype 1-1; whereas 336 workers(9.5%) had variant type of ALAD (1-2 or 2-2). Lead exposed workers, 9.8%(n=243) male and 8.1%(n=16) female were heterozygous for the ALAD allele. Also non lead exposed workers, 8.9%(n=67) male and 9.3%(n=10) female were heterozygous for the ALAD allele. For VDR genotype, 2,903 workers(89.7%) out of total tested 3,238 workers were belonged to type bb and 335 workers(10.3%) were type bB or BB. Lead exposed workers, 10.4%(n=235) male and 12.2%(n=24) female were heterozygous for the VDR allele. Also non lead exposed workers, 9.2%(n=64) male and 12.5%(n=12) female were heterozygous for the VDR allele. No significant differences were seen in mean blood lead levels by ALAD and VDR genotype, nor was significantly associated with blood lead except age in multiple regression analysis.

• Korean Journal of Clinical Laboratory Science
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• v.51 no.4
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• pp.444-452
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• 2019

Carbapenem resistance, mediated by the major acquired metallo-β-lactamase (MBL) genes, has been increasingly reported, particularly for clinical isolates of Acinetobacter spp. Of the 191 nonduplicate clinical isolates of the carbapenem-nonsusceptible Acinetobacter spp. evaluated, 125 isolates (65.4%) were positive for the modified imipenem or meropenem-Hodge test, and 49 isolates (25.7%) were positive for the imipenem-EDTA+SMA double disk synergy test (DDS). PCR and sequencing of the bla_VIM-2-allele and bla_IMP-1-allele showed that 29 A. baumannii isolates and 1 A. calcoaceticus isolate had bla_VIM-2, whereas 16 A. baumannii isolates and 2 A. calcoaceticus isolates had bla_IMP-6; 1 isolate of the A. genomospecies 3 had bla_VIM-2 and bla_AIM-1. All the above MBL genes belong to class 1 integron. The size of class 1 integron encompassing bla_VIM-2 or bla_IMP-6 ranges from 2.8 kb to 3.2 kb in clinical isolates of A. baumannii, and 3.2 kb to 3.5 kb in clinical isolates of A. genomospecies 3. bla_VIM-2 was most often located first or second in the class 1 integron, and these integrons often included aacA4. Due to dispersion of the MBL-producing Acinetobacter spp. as well as integron, which may encompass various resistance genes, there is an expectation for the increase of multidrug resistant Gram-negative bacteria, including resistance of carbapenems such as imipenem or meropenem. Hence, the development of new antimicrobial agents for treating severe Acinetobacter spp. infections is needed.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.9
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• pp.4441-4444
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• 2012

Background: Polymorphisms of the Taq I gene have been associated with prostate cancer risk. Methods:We applied a fixed-effects model to combine odds ratios (ORs) and 95% confidence intervals (95% CI). The Egger's test was carried out to evaluate potential publication bias. Results: A total of 10 case-control studies enrolling 1,141 prostate cancer patients and 1,685 controls were included in this meta-analysis. Compared with the T allele, the OR for the C allele was 0.81 (0.70-0.94). The ORs for CT and CC+CT genotypes were 0.86 (0.74-1.01) and 0.84 (0.73-0.97) compared to wide type genotype (homozygote TT). Conclusions: The present meta-analysis suggests that the TF gene Taq I polymorphism may reduce the prostate cancer risk in Asian populations.

• Asian-Australasian Journal of Animal Sciences
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• v.17 no.5
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• pp.583-587
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• 2004

The 7 sheep microsatellite markersOarFCB48, OarAE101, MAF33, OarFCB11, MAF70, OarFCB304 and OarFCB128, which were located on chromosomes 2, 4, 6, 9, 17 and 19, were selected to PCR in Hu sheep, Tong sheep and their closely related species,the goat. They were studied with the amplifying result of 7 microsatellite sites of Hu Sheep, Tong Sheep and goats, the data of allele number and range of allele' size of amplifying were analyzed with ANOVA. The results showed that there were no significant differences (p<0.05) in microsatellite DNA sites among 3 populations. Concerning the conservation of microsatellites in closely related species, selecting microsatellite sites located on the chromosome where the Robertsonian fusion was caused between sheep and goat, may be used in research into genetic differentiation and evolutionary relationships between sheep and goats.

• Weed & Turfgrass Science
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• v.2 no.3
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• pp.230-235
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• 2013

Amaranths (Amaranthus sp.), an endemic American crop, are now grown widely across the world. This study used 14 simple sequence repeat (SSR) markers to analyze the genetic diversity of 74 amaranth accessions from the United States, with eight accessions from Australia as controls. One hundred twenty-two alleles, averaging eight alleles per locus, were observed. The average major allele frequency, expected heterozygosity, and polymorphism information content (PIC) were 0.44, 0.69, and 0.65, respectively. The structure analysis based on genetic distance classified 77 accessions (94%) into three clusters, while five accessions (6%) were admixtures. Among the three clusters, Cluster 3 had the highest allele number and PIC values, while Cluster 2 had the lowest. The lowest FST was between Clusters 1 and 3, indicating that these two clusters have higher gene flow between them compared to the others. This finding was reasonable because Cluster 2 included most of the Australian accessions. These results indicated satisfactory genetic diversity among U.S. amaranths. These findings can be used to design effective breeding programs involving different plant characteristics.

• Korean journal of applied entomology
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• v.40 no.3
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• pp.227-233
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• 2001

Four polymorphic allozymes were used for genetic analysis of overwintering populations of field diamondback moth, Plutella xylostella (Linne). Different allele frequencies were found among three local populations of Andong, Youngchon, and Yangsan in all loci. Two allozyme loci (acid phosphatase and phosphoglucomutase) showed significant deviation from Hardy-Weinberg equilibrium in allele frequencies among these populations. Estimated Nei's genetic distance varied from 0.0151 between Yangsan and Youngchon to 0.0877 between Andong and Youngchon. Compared with the previous genetic distances in this moth, a little higher genetic differentiation among these overwintering populations suggests that there would be a specific genetic bottleneck in each local population during overwintering period.

• Journal of Animal Science and Technology
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• v.56 no.7
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• pp.25.1-25.6
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• 2014

This study was carried out to investigate the association of POU1F1 (POU domain, class 1, transcription factor 1, Pit1, renamed as POU1F1) gene with backfat thickness (mm), carcass weight (kg), pH, and color values ($L^*$, $a^*$, $b^*$) in crossbred pigs (Landrace ${\times}$ Yorkshire ${\times}$ Duroc). Frequency of the AA genotype indel was at the highest level (66.67%). Frequency of A allele (0.81) was higher than that of b allele (0.19). This population followed Hardy-Weinberg equilibrium. Carcass weights and $a^*$ values of the three genotypes were all significantly different (p < 0.05), respectively. However, backfat thickness, $L^*$, $b^*$, visual color, and pH of the three genotypes were not significantly different (p > 0.05). Visual color was negatively correlated with $L^*$ (r = -0.521) and $b^*$ (r = -0.390) values, $L^*$ value was correlated with $b^*$ (r = 0.419) value, and $a^*$ value was positively correlated with $b^*$ (r = 0.612) value. These results indicate that the POU1F1 gene affected carcass weight and meat redness.

• Korean Journal of Biological Psychiatry
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• v.10 no.2
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• pp.159-167
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• 2003

Objective:Under the hypothesis that 5-HTTLPR polymorphism plays some role in the susceptibility or vulnerability of some subgroup of alcohol dependence, associations of 5-HTTLPR polymorphism with alcohol dependence were examined. Method:This association analysis included 109 Korean alcohol dependent and 113 Korean control subjects. DNA of all subjects were genotyped for the biallelic functional polymorphism in the 5-HTTLPR. Considering the likelihood of heterogeneity in the alcohol dependence phenotype, alcohol dependent subjects were subgrouped by onset age, family history of alcohol dependence and severity of withdrawal symptoms. Results:There were no significant differences in the frequencies of either the 5-HTTLPR genotype or the short vs. long allele in alcohol dependent and control subjects. The frequency of the S allele and S-carrier (LS or SS genotype) was significantly increased in the early onset alcohol dependent subjects and the familial alcohol dependent subjects compared with that in the control subjects. Conclusion:The results suggest that the 5-HTT 'S' promoter polymorphism is associated with an increased susceptibility or vulnerability to develop early onset alcohol dependence and familial alcohol dependence, which characterize Cloninger's type 2 alcohol dependence.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.4 no.1
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• pp.5-12
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• 2004

Purpose Phenylketonuria is an inborn error of metabolism, which is inherited as an autosomal recessive trait. PKU is resulting from deficiency of phenylalanine hydroxylase. PAH gene spans about 90 kb on chromosome 12q and comprises 13 exons. In order to define the genetic basis of PKU and the frequencies and distribution of PAH mutations in the Korean population, we analyzed PAH gene in independent 80 patients with PKU. Methods All 13 exons including exon-intron boundaries and 2 kb of 5' upstream region of the PAH gene were analyzed by PCR-direct sequencing methods. Results PAH gene analysis revealed 39 different mutations including 10 novel mutations. The novel mutations consisted of 9 missense mutations (P69S, G103S, N207D, T278S, P281A, L293M, G332V, S391I and A447P) and a novel splice site variant (IVS10-3C>G). R243Q, IVS4-1G>A, and E6-96A>G were the most relevant mutations and they accounted in the whole for 38% of the mutant alleles identified in this study. We also observed that. $BH_4$ responsibility was. associated with genotype of R241C, R53H and R408Q. Conc1ustion Our present study with 80 participants extends the previous results to more comprehensive understanding of PAH allele distribution and frequency in Koreans. Although Korean mutation profile of PAH is similar to those of the nearest oriental populations (Japanese, Chinese, and Taiwanese), several different characteristic features are revealed. The characterization of the genotype-phenotype relationship was also performed. Our data would be very useful information for diagnosis, genetic counseling and planning of dietary and therapeutic strategies in Korean PAH patients.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.12
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• pp.6227-6232
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• 2012

Interleukin-4 receptor (IL-4R) gene single nucleotide polymorphisms (SNPs) are implicated in cancer development. However, results from the published reports have remained inconclusive. The objective of this study was to conduct a meta-analysis investigating the association between polymorphisms in IL-4R gene and cancer risk. Pubmed, EMBASE and China National Knowledge Infrastructure (CNKI) were searched for case-control studies published up to October 30, 2012 that investigated IL-4R polymorphisms and cancer risk. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the strength of any associations. Three IL-4R polymorphisms (Q576R, rs1801275; I75V, rs1805010; S503P, rs1805015) in 21 case-control studies were analyzed. Our meta-analysis indicated that these three polymorphisms are not associated with cancer risk when all studies were pooled together. In the subgroup analysis by tumor site, the results showed that Q576R G allele carriers were associated with a significantly decreased cervical cancer risk (recessive model: OR = 0.77, 95%CI = 0.60-0.98; homozygote comparison: OR = 0.76, 95%CI = 0.58-0.98). I75V G allele carriers were associated with a decreased risk of renal cancer (dominant model = 0.71, 95%CI = 0.57-0.89, heterozygote comparison: OR = 0.69, 95%CI = 0.55-0.87). When stratified by ethnicity, Q576R G allele carriers were associated with a decreased cancer risk in Caucasians (dominant model: OR = 0.90, 95%CI = 0.83-0.98; heterozygote comparison: OR = 0.89, 95%CI = 0.82-0.98). I75V G allele carriers were associated with a decreased cancer risk in Asians (heterozygote comparison: OR = 0.76, 95%CI = 0.62-0.94). S503P C allele carriers were also associated with a decreased cancer risk in Asians (CC VS TT: OR = 0.29, 95%CI = 0.08-0.99). Our results suggest that Q576R, I75V and S503P may be associated with a decreased cancer risk for certain types of cancers and in some specific ethnic groups. Future case-control studies with large sample size are needed to evaluate these associations in detail.