• Title/Summary/Keyword: polymorphic

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Distribution of HLA-DQA1*01, *03, *05 and DQB1*02 Subtypes and the Associated Haplotypes in the Korean Population

  • Pyo, Chul-Woo;Chung, Seo-Young;Hur, Seong-Suk;Kim, Hyoung-Jae;Choi, Jee-Yeoun;Kim, Yang-Kyum;Yoo, Ha-Jung;Choi, Hee-Baeg;Kim, Tai-Gyu
    • IMMUNE NETWORK
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    • v.3 no.2
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    • pp.103-109
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    • 2003
  • Background: As all HLA class II genes, the DQ genes show their polymorphic variation mainly in the second exon, which encodes the first extracellular domain of the molecule. PCR-SSOP (Polymerase chain reaction-Sequence specific oligonucleotide probe) techniques were frequently used for HLA-DQA1 and DQB1 typing but certain alleles, $DQA1^*0101/0104/0105$, $^*302/0303$, $*0501/0505$ and $DQB1^*0201/^*0202$ which differ from each other in segment other than exon 2, could not be unequivocally assigned. Methods: To overcome this problem, we applied additional PCR-SSP (PCR-Sequence specific primer) method to analyze DQA1 exons 1, 3 and 4 and DQB1 exon 3. And we investigated the distributions and haplotypes of HLA-DRB1, DQA1 and DQB1 alleles in 406 unrelated Korean healthy individuals. Results: Using this method the indistinguishable alleles of DQA1 and DQB1 in PCR-SSOP were typed definitively. We also found several important associations between DQA1 and DQB1 alleles in the Korean population; $DQA1^*0101-DQB1^*0501$, $DQA1^*0104-DQB1^*0502$ or $-^*0503$, $DQA1^*0105-DQB1^*0501$, $DQA1^*0302-DQB1^*0303$, $DQA1^*0303-DQB1^*0401$ or $-^*0402$, $DQA1^*0501-DQB1^*0201$, $DQA1^*0505-DQB1^*0301$, and $DQA1^*0201-DQB1^*0202$. The haplotypes of DRB1-DQA1-DQB1 associated with $DQA1^*01$, $^*03$, $^*05$, and $DQB1^*02$ subtypes were investigated. Several haplotypes associated with these alleles were observed in the Korean population. Conclusion: Our results can be helpful to find potential unrelated donors for bone marrow registries and study the HLA-associated disease and anthropology at high-resolution allelic level.

Efficient Indirect Branch Predictor Based on Data Dependence (효율적인 데이터 종속 기반의 간접 분기 예측기)

  • Paik Kyoung-Ho;Kim Eun-Sung
    • Journal of the Institute of Electronics Engineers of Korea CI
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    • v.43 no.4 s.310
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    • pp.1-14
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    • 2006
  • The indirect branch instruction is a most substantial obstacle in utilizing ILP of modem high performance processors. The target address of an indirect branch has the polymorphic characteristic varied dynamically, so it is very difficult to predict the accurate target address. Therefore the performance of a processor with speculative methodology is reduced significantly due to the many execution cycle delays in occurring the misprediction. We proposed the very accurate and novel indirect branch prediction scheme so called data-dependence based prediction. The predictor results in the prediction accuracy of 98.92% using 1K entries, and. 99.95% using 8K But, all of the proposed indirect predictor including our predictor has a large hardware overhead for restoring expected target addresses as well as tags for alleviating an aliasing. Hence, we propose the scheme minimizing the hardware overhead without sacrificing the prediction accuracy. Our experiment results show that the hardware is reduced about 60% without the performance loss, and about 80% sacrificing only the performance loss of 0.1% in aspect of the tag overhead. Also, in aspect of the overhead of storing target addresses, it can save the hardware about 35% without the performance loss, and about 45% sacrificing only the performance loss of 1.11%.

Genetic Relationships among the Parental Bombyx mori Strains of the Current F$_1$ Hybrid Silkworm based on RAPD (RAPD를 이용한 장려누에품종의 원종간 유전적 유연관계)

  • 황재삼;이진성;강현아;이상몽;손해룡
    • Korean journal of applied entomology
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    • v.36 no.3
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    • pp.206-214
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    • 1997
  • The genetic relationships among the twenty parental silkworm, Bombyx mori strains authorized in Korea were evaluated using RAPDs-PCR(Random Amplified Polymorphic DNAs-Polymerase Chain Reaction). Twenty-six different 10-mer oligonucleotide primers were used to screen genetic characteristics of parental twenty silkworm strains by RAPD-PCR analysis. 24 primers showed different banding patterns among the strains. Based on these RAPD patterns, the genetic relationships among the silkworm strains were analyzed by UPGMA(Unweighed Pair-Group Method with Arithmetic average) method. The phylogenetic relationships in the twenty silkworm strains were classified into two major sub-groups at the genetic similarity coefficient of 0.60. The first sub-group included Jaml13, Jaml 19, Jaml20, Jam123, Jam1 25 and Jam 127. Jamll4, Jam1 2 I, Jam 122, Jam 124, Jam1 26, Jam 128, Jam129, Jam 130, Jam 131, Jam1 32, Jam133, Jam134, Jam301 and Jam302 were included in the 2nd group. The genetic distance values among Jam1 14, Jam120 and Jam127 were lower than those among the other strains, while Jam129 is very closely related to Jam131 as showing coefficient value of 1 .O.

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Analysis of copy number abnormality (CNA) and loss of heterozygosity (LOH) in the whole genome using single nucleotide polymorphism (SNP) genotyping arrays in tongue squamous cell carcinoma (설편평상피암에 있어서의 고밀도 SNP Genotyping 어레이를 이용한 전게놈북제수와 헤테로접합성 소실의 분석)

  • Kuroiwa, Tsukasa;Yamamoto, Nobuharu;Onda, Takeshi;Bessyo, Hiroki;Yakushiji, Takashi;Katakura, Akira;Takano, Nobuo;Shibahara, Takahiko
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.37 no.6
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    • pp.550-555
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    • 2011
  • Chromosomal loss of heterozygosity (LOH) is a common mechanism for the inactivation of tumor suppressor genes in human epithelial cancers. LOH patterns can be generated through allelotyping using polymorphic microsatellite markers; however, owing to the limited number of available microsatellite markers and the requirement for large amounts of DNA, only a modest number of microsatellite markers can be screened. Hybridization to single nucleotide polymorphism (SNP) arrays using Affymetarix GeneChip Mapping 10 K 2.0 Array is an efficient method to detect genome-wide cancer LOH. We determined the presence of LOH in oral SCCs using these arrays. DNA was extracted from tissue samples obtained from 10 patients with tongue SCCs who presented at the Hospital of Tokyo Dental College. We examined the presence of LOH in 3 of the 10 patients using these arrays. At the locus that had LOH, we examined the presence of LOH using microsatellite markers. LOH analysis using Affymetarix GeneChip Mapping 10K Array showed LOH in all patients at the 1q31.1. The LOH regions were detected and demarcated by the copy number 1 with the series of three SNP probes. LOH analysis of 1q31.1 using microsatellite markers (D1S1189, D1S2151, D1S2595) showed LOH in all 10 patients (100). Our data may suggest that a putative tumor suppressor gene is located at the 1q31.1 region. Inactivation of such a gene may play a role in tongue tumorigenesis.

Molecular diagnosis of fragile X syndrome in a female child (여아 환자에서의 취약 X 증후군의 분자유전학적 진단)

  • Jeong, Seon-Yong;Yang, Jeong-A;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.41-46
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    • 2008
  • Purpose : Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retadation-1(FMR1) gene. Combination of Southern blotting and simple polymerase chain reaction(PCR) amplification of the FMR1 repeat region is commonly used for diagnosis in females. To give a definite diagnosis in a female child suspected of having FXS, we carried out the molecular diagnostic test for FXS using the recently developed Abbott Molecular Fragile X PCR Kit. Methods : The PCR amplification of the FMR1 repeat region was performed using the Abbott Mdecular Fragile X PCR Kit. The amplified products were analyzed by size-separate analysis on 1.5% agarose gels and by DNA fragment analysis using Gene scan. Results : Agarose gel and Gene scan analyses of PCR products of the FMR1 repeat region showed that the patient had two heterozygous alleles with a normal 30 repeats and full mutation of >200 repeats whereas her mother had two heterozygous alleles with the normal 30 repeats and premutation of 108 repeats, suggesting that the premutation of 108 repeats in her mother may have led to the full mutation of >200 repeats in the patient. Conclusion : We diagnosed FXS in a female patient using a simplified molecular diagnostic test. This commercially available diagnostic test for FXS, based on PCR, may be a suitable alternative or complement method to Southern blot analysis and PCR analysis and/or methylation specific(MS)-PCR analysis for the molecular diagnosis of FXS in both males and females.

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Potential Allelic Association of Microsatellite Markers on Bovine Chromosome 5 with Carcass Traits in Hanwoo (Korean cattle) (Microsatellite 의 대립유전자 빈도를 이용한 한우의 경제형질과의 연관성 규명)

  • Oh, Jae-Don;Kong, Hong-Sik;Cho, Byung-Wook;Lee, Mi-Rang;Jeon, Gwang-Joo;Lee, Hak-Kyo
    • Journal of Life Science
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    • v.18 no.9
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    • pp.1225-1229
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    • 2008
  • A total of 10 polymorphic microsatellite markers on bovine chromosome 5 were used for allelic association tests with phenotypic characteristics in Hanwoo. The data analyzed in this study were collected from 326 steers. Chi-square tests were performed to compare the frequencies of individual alleles between the high and the low breeding value groups. The following breeding values were analyzed for QTL effects. The frequency of allele 239 of DIK2828 showed a significant difference between the high and the low breeding value groups in the breeding value of marbling score (MSBV). The allele 279 of BMC1009 was found to show significant differences in allelic distribution for the breeding value of cold carcass weight (CWBV) and the breeding value of backfat thickness (BFBV) and allele 285 showed significant differences in allelic distribution for CWBV, BFBV, and MSBV. The allele 200 of DIK4329 showed significant differences in allelic distributions for the breeding values of longissimus muscle area (LMABV) and BFBV. In this study, we identified the QTL for carcass traits at around 20 (DIK2828), 41 (BMC1009) and 95 (DIK4329) cM in chromosome 5. The results provided a useful reference for further positional candidate gene research and marker-assisted selection for fat metabolism and carcass traits.

Spread of Bacterial Canker of Kiwifruit by Secondary Infection of Pseudomonas syringae pv. actinidiae Biovar 3 in Gyeongnam in 2016 (2016년 경남지역 Pseudomonas syringae pv. actinidiae Biovar 3의 2차감염에 의한 키위 궤양병의 확산)

  • Kim, Gyoung Hee;Choi, Eu Ddeum;Lee, Young Sun;Jung, Jae Sung;Koh, Young Jin
    • Research in Plant Disease
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    • v.22 no.4
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    • pp.276-283
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    • 2016
  • Bacterial canker caused by Pseudomonas syringae pv. actinidiae (Psa) occurred at 202 kiwifruit orchards for the survey period of 2013-2016, of which Psa biovar 2 (Psa2) and Psa biovar 3 (Psa3) were detected at 73 and 129 kiwifruit orchards, respectively. The number of kiwifruit orchards infected by Psa3 in 2016 increased nearly two times compared to 2015. Psa3 was detected from all the kiwifruit cultivars except some kiwiberry cultivars growing in Korea. Yellow-fleshed cultivars Hort16A and Jecy-gold and red-fleshed cultivar Hongyang were highly susceptible to Psa3. Our epidemiological and random amplification of polymorphic DNA analyses indicated that the first Psa3 incidence on Hongyang orchard in Sacheon, Gyoungnam might result from an introduction of Psa3-contaminated pollens from China for artificial pollination in 2014 and recent outbreaks of Psa3 in Sacheon and Goseong, Gyoungnam in 2016 might be due to rapid spread of bacterial canker by secondary infection of Psa3 from Hongyang orchard to neighboring Jecy-gold and Hayward orchards.

Tamoxifen Resistance and CYP2D6 Copy Numbers in Breast Cancer Patients

  • Motamedi, Sahar;Majidzadeh, Keivan;Mazaheri, Mahta;Anbiaie, Robab;Mortazavizadeh, Seyed Mohammad Reza;Esmaeili, Rezvan
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.12
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    • pp.6101-6104
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    • 2012
  • Background: Breast cancer accounts about one million from total annual ten million new diagnosed cases of neoplasia worldwide and is the main cause of death due to cancer in women. Tamoxifen is the most popular selective estrogen receptor modulator used in anti estrogen treatments. Tamoxifen must be converted into its metabolite endoxifen for biologic effects; this conversion process is catalysed by highly polymorphic cytochrome P450 2D6 (CYP2D6). This study surveyed copy number variation of the CYP2D6 gene and its possible correlation with Tamoxifen resistance in breast cancer patients. Methods: This case control study was performed on samples taken from 79 patients with breast cancer who used tamoxifen in Yazd and Tehran Cities, Iran. Real time reactions were conducted for 10 healthy samples using the comparative $C_t$ (Cycles threshold) method, each pair of genes being compared and samples with ratios around 1 were taken as control samples. Proliferation reactions were done by Real-Time PCR ABI Prism 7500. All registered data were transformed into SPSS 15 program and analyzed. Results: Efficiency of PCR for both CYP2D6 and ALB genes was 100%. From all 23 drug resistant patients 21.7% had one copy, 47.8% two copies and 30.4% had three copies. Also from all 56 drug sensitive patients, 26.8% had one copy, 51.8% two copies and 21.4% had three copies. The percentage of patients with one and two copies was similar between two groups but patients with three copies were more likely to belong to the drug resistant group more. Odd ratios for one and two copies were 0.759 and 0.853 respectively, indicating possible protective effects while that for three copies was 1.604. Conclusions: Based on our study there is no significant link between CYP2D6 gene copy numbers and tamoxifen resistance in women with breast cancer. But more studies considering other influencing factors appear warranted.

Germline Variations of Apurinic/Apyrimidinic Endonuclease 1 (APEX1) Detected in Female Breast Cancer Patients

  • Ali, Kashif;Mahjabeen, Ishrat;Sabir, Maimoona;Baig, Ruqia Mehmood;Zafeer, Maryam;Faheem, Muhammad;Kayani, Mahmood Akhtar
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7589-7595
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    • 2014
  • Apurinic/apyrimidinic endonuclease 1 (APEX1) is a multifunctional protein which plays a central role in the BER pathway. APEX1 gene being highly polymorphic in cancer patients and has been indicated to have a contributive role in Apurinic/apyrimidinic (AP) site accumulation in DNA and consequently an increased risk of cancer development. In this case-control study, all exons of the APEX1 gene and its exon/intron boundaries were amplified in 530 breast cancer patients and 395 matched healthy controls and then analyzed by single-stranded conformational polymorphism followed by sequencing. Sequence analysis revealed fourteen heterozygous mutations, seven 5'UTR, one 3'UTR, two intronic and four missense. Among identified mutations one 5'UTR (rs41561214), one 3'UTR (rs17112002) and one missense mutation (Ser129Arg, Mahjabeen et al., 2013) had already been reported while the remaining eleven mutations. Six novel mutations (g.20923366T>G, g.20923435G>A, g.20923462G>A, g.20923516G>A, 20923539G>A, g.20923529C>T) were observed in 5'UTR region, two (g.20923585T>G, g.20923589T>G) in intron1 and three missense (Glu101Lys, Ala121Pro, Ser123Trp) in exon 4. Frequencues of 5'UTR mutations; g.20923366T>G, g.20923435G>A and 3'UTR (rs17112002) were calculated as 0.13, 0.1 and 0.1 respectively. Whereas, the frequency of missense mutations Glu101Lys, Ser123Trp and Ser129Arg was calculated as 0.05. A significant association was observed between APEX1 mutations and increased breast cancer by ~9 fold (OR=8.68, 95%CI=2.64 to 28.5) with g.20923435G>A (5'UTR), ~13 fold (OR= 12.6, 95%CI=3.01 to 53.0) with g.20923539G>A (5'UTR) and~5 fold increase with three missense mutations [Glu101Lys (OR=4.82, 95%CI=1.97 to 11.80), Ser123Trp (OR=4.62, 95%CI=1.7 to 12.19), Ser129Arg (OR=4.86, 95%CI=1.43 to 16.53)]. The incidence of observed mutations was found higher in patients with family history and with early menopause. In conclusion, our study demonstrates a significant association between germ line APEX1 mutations and breast cancer patients in the Pakistani population.

Studied on Amplificative Efficiency of PCR of Predigested template DNA and GC Contents for RAPD Analysis in the Silkworm, Bombyx mori (누에의 RAPD 분석을 위한 primer의 GC 함량과 사전 제한효소 처리한 주형 DNA의 PCR 증폭효율에 관한 연구)

  • 이진성;황재삼;이상몽;황석조;강현아;성승현;서동상
    • Korean journal of applied entomology
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    • v.35 no.1
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    • pp.58-65
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    • 1996
  • This experiment was carried out to evaluate the effect of sublethal doses of BPMC, etofenprox, and buprofezin on N. lugens. and its predator C. lividipennis. Buprofezin was found to be the most toxic to N. lugens and the most safe to C. lividipennis among the three insecticides, based on LD50 values. Selective toxicity index calculated by dividing LDSo value of C. lividipennis by that of N. lugens indicated that buprofezin was very safe to C. lividipennis, showing selective toxicity of 2703.3. Longevity and fecundity of N. lugens treated with LDIU and LDm of buprofezin and BPMC were not significantly different with those of untreated brown planthoppers. However, egg hatchability' of N. lugens was greatly reduced when treated with LDm of buprofezin, having the highest inhibition rate of 17.7%. Hatchability of eggs from insects treated with BPMC was similar to that of control. The oviposited peak of treated hoppers appeared late as compared to the untreated which showed the peak at early part of the ovipositional period. The longevity and fecundity of C. lividipennis treated with BPMC were significantly reduced as compared with the untreated. Etofenprox also induced fecundity reduction when treated with LDlo, and LDm. However, C. lividipennis treated with sublethal doses of buprofezin showed no redution in logevity and fecundity. From these results, it may be said that buprofezin can be used to control brown planthopper without disrupting of C. lividipennis population in the rice field.

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