• Title/Summary/Keyword: Allele Frequencies

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Genetic Analysis of Three Overwintering Diamondback Moth, Plutella xylostella (Linne), Populations in Korea (국내 세 지역의 배추좀나방(Plutella xylostella (Linne)) 월동집단에서 나타나는 유전변이 분석)

  • 김용균;박효찬;정명섭
    • 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.

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IL-10 gene promoter polymorphisms in Korean gener-alized aggressive periodontitis patients (한국인 전반적 급진성 치주염 환자에서 IL-10 promoter 유전자 다변성에 관한 연구)

  • Ryn, Ji-Sun;Kim, Ok-Su
    • Journal of Periodontal and Implant Science
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    • v.37 no.3
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    • pp.563-573
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    • 2007
  • Genetic polymorphisms associated with aggressive periodontitis have previously been reported. Interleukin-10 is an immunoregulatory cytokine that plays a role in the pathogenesis of periodontitis. Individual capacity for IL-10 production appears to be under genetic influence, The aim of present investigation was to explore possible genetic association of IL-10 gene promoter polymorphisms with generalized aggressive periodontitis. The study population consisted of 37 generalized aggressive periodontitis patients from the Department of Periodontology, Chonnam National University Hospital and 27 control subjects, all the subjects were non-smokers, Genomic DNA was obtained from buccal swab. The IL-10promoter -597, -824, -1082 positions were genotyped by amplifying the polymorphic regions using polymerase chain reaction (PCR) , followed by restriction enzyme digestion and gel electrophoresis. IL-10-597 C (allele 1) to A (allele 2) and IL-10-824 C (allele 1) to T (allele 2) and IL-10-1082 G (allele 1) to A (allele 2) polymorphisms were examined. The results were as follows. 1. In patients, the distribution of genotypes C/C, C/A and NA at Il-10-597 was determined to be 13.5%, 37.8% and 48.7%, respectively and the distribution of genotypes at IL-10-824 was the same as that of IL-10-597. The distribution of genotypes G/G, G/A and NA at IL-10-1082 was found to be 2.7%, 16.2% and 81. 4%, respectively. No statistical difference in genotype distribution was found between the patient and control groups. 2. Allele 2 carriage rate at the three position of the IL-10 promoter region was higher in the control group than the patient group. 3. Allele 2 frequencies at IL-10-597 and -824 positions were higher in female group than male group and its difference was statistically significant(p<0.05). No significant difference in genotype distribution between the control and patient groups. Allele frequency between control and patient groups was not significantly different although allele 2 frequency at the three positions in the IL-10 promoter region appeared to be higher in control group. In conclusion, no clear association between IL-10 gene promoter polymorphisms and generalized aggressive periodontitis in Korean was observed.

Allele Frequency of the Bovine Y-chromosomal Microsatellite Locus in the Cattle Breeds (소 Y 염색체 특이 Microsatellite를 이용한 품종별 대립유전자 빈도 분석)

  • Yoon, D.;Park, E.W.;Cho, Y.M.;Cheong, I.C.;Im, S.K.
    • Journal of Animal Science and Technology
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    • v.49 no.4
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    • pp.429-436
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    • 2007
  • The INRA124 is a bovine Y-chromosomal specific microsatellite locus that has been revealed a polymorphism. This locus has two alleles. The 132 bp allele is specific to cattle (humpless) of taurine origin and the 130 bp allele is specific to cattle (humped) of indicine origin. A total 822 males of 20 breeds or populations; North Eastern Asian breeds (Hanwoo, Korean Black cattle, Chik-so, CBK, Japanese Black cattle, Japanese Brown cattle, Yanbian cattle), Chinese yellow cattle (Luxi cattle, Nanyang cattle), European origin (Angus, Hereford, Charolais, Simmental, Brown swiss, Holstein, Limousin), African origin (Kavirondo zebu, White Fulani, crossbreed of N'Dama and Boran), Indian origin (Sahiwal) were characterized the distribution of alleles using INRA124 locus. Any individuals of European, Japanese origins and Hanwoo were not detected 130 bp allele, Bos indicus specific allele. Bos indicus breeds of Indian and African origins were not detected 132 bp allele, Bos taurus specific allele. CBK population that the crossbreed of Hanwoo, Brahman and Charolais showed the frequency of 0.19 in indicine specific allele. The breeds of Chinese mainland, Luxi and Nanyang cattle were detected 0.46 and 0.29 frequencies in indicine specific allele, respectively. These results suggest that Korean cattle, Hanwoo, had not been originated from a crossbred between Bos primigenius in Europe and Bos indicus in India.

Association of Single Nucleotide Polymorphisms in Exon 6 Region of BMPRIB Gene with Litter Size Traits in Sheep

  • Jia, Cunling;Li, Ning;Zhao, Xingbo;Zhu, Xiaoping;Jia, Zhihai
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.10
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    • pp.1375-1378
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    • 2005
  • The objective of this study was to investigate polymorphisms of BMPRIB (bone morphogenetic protein type IB receptor) gene and its effect on litter size traits in sheep. Three populations including 101 Small Tailed Han sheep, 79 Poll Dorset and 81 hybrids (Poll Dorset${\times}$Small Tailed Han sheep) were used to detect the polymorphisms in exon 6 region of sheep BMPRIB gene. A fragment of approximately 190bp was amplified by one pair of primers, the polymorphism was revealed from the analysis of three populations by the technique of PCR -SSCP, and a mutation from A to G at 746 of the coding region was confirmed by sequencing in several individual. Statistical results indicated the distribution of allele B (with a A$\longrightarrow$G mutation) and A (without mutation) or genotype AA, AB and BB frequencies differed in three populations. BB genotype (44.55%) and B allele (66.34%) frequencies of Small Tailed Han sheep were higher than those of the others. Analysis of variance showed that the polymorphism of BMPRIB gene was associated with positive effect on litter size traits. The means of genotype BB and AB were about 1.04 and 0.74 more than genotype AA for litter size (p<0.05). Analysis of BMPRIB genotype effects on litter size in three populations indicates the existence of genotype BB or B allele increases the litter size. It suggested that the polymorphism in exon 6 (at 746 in the coding region) of sheep BMPRIB gene may be used as a marker for early selection of prolificacy in sheep.

Receptor activator of nuclear factor kappa-B gene polymorphisms in Iranian periodontitis and peri-implantitis patients

  • Kadkhodazadeh, Mahdi;Baghani, Zahra;Ebadian, Ahmad Reza;Kaghazchi, Zahra;Amid, Reza
    • Journal of Periodontal and Implant Science
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    • v.44 no.3
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    • pp.141-146
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    • 2014
  • Purpose: Peri-implantitis and periodontitis are inflammatory and infectious diseases of implant and tooth-supporting tissues. Recently, the role of gene polymorphisms of immune response components in the relevant pathogenesis has been investigated. The present study was the first to evaluate the relationship between two known single nucleotide polymorphisms (SNPs) of the receptor activator of nuclear factor kappa-${\beta}$ (RANK) gene (rs3018362 and rs35211496) in chronic periodontitis and peri-implantitis patients in an Iranian population. Methods: Eighty-one periodontally healthy patients, 38 patients with peri-implantitis, and 74 patients with chronic periodontitis were enrolled in this study. DNA was extracted from blood arm vein samples by using Miller's salting out technique according to the manufacturer's instructions given in the extraction kit. The concentration of DNA samples was measured using a spectrophotometer. The genetic polymorphisms of the RANK gene were evaluated using a competitive allele specific polymerase chain reaction (KBioscience allele specific PCR) technique. Differences in the frequencies of genotypes and alleles in the diseased and healthy groups were analyzed using chi-squared statistical tests (P<0.05). Results: Analysis of rs35211496 revealed statistically significant differences in the expression of the TT, TC, and CC genotypes among the three groups (P=0.00). No statistically significant difference was detected in this respect between the control group and the chronic periodontitis group. The expression of the GG, GA, and AA genotypes and allele frequencies (rs3018362) showed no statistically significant difference among the three groups (P=0.21). Conclusions: The results of this study indicate that the CC genotype of the rs35211496 RANK gene polymorphism was significantly associated with peri-implantitis and may be considered a genetic determinant for peri-implantitis, but this needs to be confirmed by further studies in other populations.

Apolipoprotein E2 & E4 Alleles Influence on the Distribution of the Human Plasma Lipid Profiles in Mormolipidemic Korean Women (아포리포 단백질 E 유전자의 E2와 E4 변이형이 정상 한국여성의 혈중 지질 수준 분포에 미치는 영향)

  • 이명숙
    • Journal of Nutrition and Health
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    • v.29 no.6
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    • pp.642-650
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    • 1996
  • Apo E polymorphism (e2, e3, e4) was among the first reported genetic polymorphism that explained part of the normal variation in plasma cholesterol concentrations. Both alleles E2 and E4 are significantly more frequent in patients with mixed forms of hyperlipidemia and contribute on the observed differences in CHD risk among different populations. Effects of apo E polymorphism on the distribution of plasma lipid profiles were studied in 105 normolipidemic healthy women. The relative frequencies of common alleles for gene locus of apo E in this study were that E3 allele was 0.848, E4 allels was 0.087, and E2 allele was 0.067. SBP and DBP were slightly more elevated in E2 allele than those in E3 and E4. The pulsation was also significantly (p<0.016) increased by E2 allele with excess body fat % in E2 allele. There were no differences in total-, total HDL-, VLDL+LDL-, VLDL- and LDL cholesterol among the apo E alleles. However, apo E2 allele subject had lower level of total HDL and HDL2 cholesterol (P<0.047) and significantly higher lev디 of HDL3 cholesterol (P<0.05) than those in apo E3 and E4 allele subject. The conclusion is that first, it seems that apo E4-mediated alteration through LDL B/E receptors or E receptors in cholesterol metabolism results in lower plasma TG or remanate particles and in higher levels of VLDL+LDL or LDL. Second, apo E2 allele shows reciprocal effects of E4 on the plasma lipid metabolism, respecitvely. Third, apo E2 allele was more atherogenic than apo E4 because the higher levels of HDL3/HDL2 ratio and atherogenic index[(TC-HDL)/HDL]were criticized.

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Association of Single Nucleotide Polymorphism rs1053004 in Signal Transducer and Activator of Transcription 3 (STAT3) with Susceptibility to Hepatocellular Carcinoma in Thai Patients with Chronic Hepatitis B

  • Chanthra, Nawin;Payungporn, Sunchai;Chuaypen, Natthaya;Pinjaroen, Nutcha;Poovorawan, Yong;Tangkijvanich, Pisit
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.12
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    • pp.5069-5073
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    • 2015
  • The single nucleotide polymorphism (SNP) rs1053004 in Signal transducer and activator of transcription 3 (STAT3) was recently reported to be associated with chronic hepatitis B (CHB)-related hepatocellular carcinoma (HCC) in a Chinese cohort. This study was aimed at investigating whether the SNP might also contribute to HCC susceptibility in the Thai population. Study subjects were enrolled and divided into 3 groups including CHB-related HCC (n=211), CHB without HCC (n=233) and healthy controls (n=206). The SNP was genotyped using allelic discrimination assays based on TaqMan real-time PCR. Data analysis revealed that the distribution of different genotypes was in Hardy-Weinberg equilibrium (P>0.05). The frequencies of allele T (major allele) in HCC patients, CHB patients and healthy controls were 51.4%, 58.6% and 61.4%, respectively, whereas the frequencies of C allele (minor allele) were 48.6%, 41.4% and 38.6%. The C allele frequency was higher in HCC when compared with CHB patients (odds ratio (OR)=1.34, 95% confidence interval (CI)=1.02-1.74, P=0.032). The genotype of SNP rs1053004 (CC versus TT+TC) was significantly associated with an increased risk when compared with CHB patients (OR=1.83, 95% CI=1.13-2.99, P=0.015). In addition, we observed a similar trend of association when comparing HCC patients with healthy controls (OR=1.77, 95% CI=1.07-2.93, P=0.025) and all controls (OR=1.81, 95% CI=1.19-2.74, P=0.005). These findings suggest that the SNP rs1053004 in STAT3 might contribute to HCC susceptibility and could be used as a genetic marker for HCC in the Thai population.

The Dopamine $D_2$ Receptor Locus as a Modifying Gene in Korean Schizophrenia, Alcoholism and Drug Addiction (정신분열증, 알코올중독, 약물중독에서 도파민 $D_2$ 수용체 유전자의 조절유전자(modifying gene)로서의 역할 - 충동적.강박적.탐닉적 행동을 나타내는 정신질환들에서 도파민 $D_2$ 수용체의 조절유전자로서의 역할 -)

  • Jung, Hyun-Mo;Lee, Hong-Seock;Chang, Dong-Won;Lee, Min-Soo
    • Korean Journal of Biological Psychiatry
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    • v.4 no.2
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    • pp.225-233
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    • 1997
  • The authors attempted to examine the allelic association between the A1 allele of Dopamine $D_2$ receptor and schizophrenia, alcoholism, drug addiction in Koreans. Schizophrenic patients(n=31), alcoholism(n=65), drug addiction(n=18) and controls(n=52) were examined by case-control study for distribution of the TaqI polymorphism of the dopamine $D_2$ receptor gene in Korean population to minimize the effect of racial differencies in gene frequencies. In schizophrenics, the numbers of schizophrenics with A1A1, A1A2, A2A2 were 9(29.0%), 15(48.4%) and 7(22.6%) respectively and in alcoholics with A1A1, A1A2, A2A2 were 14(21.5%), 36(55.4%) and 15(23.1%) respectively and in drug addiction with A1A1, A1A2, A2A2 were 2(11.1%), 10(55.6%) and 6(33.3%) respectively and in controls with A1A1, A1A2, A2A2 were 4(7.6%), 24(46.2%) and 24(46.2%) respectively. The prevalence of the A1 allele in schizophrenics, alcoholics, drug addiction and controls were 77%, 76.9%, 67% and 53.8% respectively. And the frequency of the A1 allele in schizophrenics, alcoholics, drug addiction and controls were 0.53, 0.49 0.39 and 0.31 respectively. There was significant difference in the frequency of the A1 allele between schizophrenics, alcoholics and controls. We also classified our alcoholic population. For classification by severity, we used the median MAST score 30 in our samples. There was also significant difference in the frequency of the A1 allele between less severe group(0.42) and more severe group(0.57). This data suggest that the A1 allele is associated with schizophrenia and alcoholism in Koreans. Furthermore the prevalence of the A1 allele increassed in more severely affected alcoholics. The authors conclude that our data support an allelic association between the A1 allele at dopamine $D_2$ receptor and schizophrenia, alcoholism. These results suggest the A1 allele of the $DRD_2$ gene is associated with a number of behavior disorders in which it may act as a modifying gene rather than as the primary etiological agent.

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Study on the Prolactin Receptor 3 (PRLR3) Gene and the Retinol-binding Protein 4 (RBP4) Gene as Candidate Genes for Production Traits in Berkshire Pigs

  • Do, C.H.;Cho, B.W.;Lee, D.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.2
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    • pp.183-188
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    • 2012
  • To investigate the influence of the prolactin receptor 3 (PRLR3) gene and the retinol-binding protein 4 (RBP4) gene on the production traits of swine, genotyping was performed on 156 and 141 Berkshire pigs, respectively, that were carefully selected for economic traits. The frequencies of allele A in the PRLR3 locus and allele B in the RBP4 locus were 0.50 and 0.42, respectively. Neither locus was in the Hardy-Weinberg equilibrium. After a genotype was assigned to the individuals whose parents had the homozygous genotype, a statistical analysis was conducted for 291 pigs. The animals with the PRLR3 and RBP4 genotypes included 182 and 227 head, respectively. Even though the genotypic effects of PRLR3 (p<0.05) and RBP4 (p<0.01) had a significant influence on the pigs' back fat thickness, the interaction of both genes was not highly significant in terms of the back fat thickness (p = 0.1235). While the estimated epistasis effects of aaBB and aaBb decreased the back fat thickness and reduced the growth rate, the effects of AAbb and aabb increased the growth rate. Despite the insignificant difference in the PRLR genotypes in terms of the days to 90 kg and the average daily gain, the back fat thickness showed a significant difference (p<0.05), and the additive effect of allele A and the dominant effect of the hetero-genotype were -0.377 and 1.206 mm, respectively. The RBP4 genotypes had a very significant effect (p<0.01) on the back fat thickness, the days to 90 kg, and the average daily gain. The additive effects of allele B of the RBP4 locus on the back fat thickness, the days to 90 kg, and the average daily gain were 0.70 mm, -1.3 days and 6.2 g, respectively. Moreover, the dominant effects of the heterozygote for those traits were 0.63 mm, 9.9 days and -45.0 g, respectively. Allele A of the PRLR3 locus favorably influenced the back fat thickness, the days to 90 kg of the body weight, and the average daily gain and its dominant effect unfavorably influenced those traits. Allele B of RBP4 showed an incremental growth rate and back fat thickness, which could lower the lean meat percentage in the carcass. The RBP4 hetero-genotype negatively affected the pork production. These results strongly imply that the selection of allele A of PRLR3 and allele B of RBP4 would produce highly productive pigs in the Berkshire breed. Careful selection of allele B of RBP4 is required because of the increase in the back fat thickness.

CYP2D6 P34S Polymorphism and Mirtazapine Responses in Koreans with Major Depression

  • Jeon, Si-On;Chang, Hun-Soo;Lee, Hwa-Young;Ham, Byung-Joo;Kang, Rhee-Hun;Jeong, Yoo-Jung;Lee, Min-Soo
    • Molecular & Cellular Toxicology
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    • v.5 no.4
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    • pp.346-353
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    • 2009
  • Drug metabolism is a critical determinant of the therapeutic and adverse effects of many psychotropic drugs. The metabolism depends on the pharmacokinetics of a drug, which includes its absorption, distribution, and elimination. Psychotropic drugs are metabolized mainly by cytochrome P450 (CYP) enzymes; about 20 of these enzymes exist and they are often responsible for the rate-limiting step of drug metabolism. CYP2D6 is the best-characterized P450 enzyme that exhibits polymorphism in humans. This study determined the relationship between the CYP2D6*10 (P34S) polymorphism and the response to mirtazapine in 153 Koreans with major depressive disorder (MDD). The genotype frequencies were compared using logistic regression analysis, and between-genotype differences in the decrease in the 21-item Hamilton Depression (HAMD21) score over the 12-week treatment period were analyzed using a linear regression analysis. The proportion of remitters was lower in patients with MDD possessing the S allele than in P allele carriers after 2 weeks of mirtazapine treatment. Similarly, the reductions in the HAMD21 and Clinical Global Impression (CGI) scores in S allele carriers were smaller than those in patients with the P allele after 2 weeks of mirtazapine treatment. In the analysis of depression symptoms, the sleep and delusion scores had smaller reductions in S allele carriers. Based on the Liverpool University Neuroleptic Side Effect Rating Scale (LUNSERS), the psychic adverse effects of mirtazapine were associated with CYP2D6 P34S, while weight gain was not. These results suggest that CYP2D6 P34S affects the outcome of mirtazapine treatment in patients with MDD, and that this polymorphism may be a good genetic marker for predicting the clinical outcome of mirtazapine treatment.