• Title/Summary/Keyword: allelic

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Allelic Characterization of IGF2 and H19 Gene Polymorphisms in Molar Tissues

  • Piyamongkol, Wirawit;Suprasert, Prapaporn
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.9
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    • pp.4405-4408
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    • 2016
  • Background: To investigate the characteristics of allelic distribution of IGF2 and H19 gene polymorphisms in molar tissues compared to normal placentas. Materials and Methods: Forty-nine specimens of molar tissues as well as 100 control normal placental tissues, delivered on the same days, were collected. Polymerase chain reaction (PCR) with restriction fragment length polymorphism (RFLP) on 2% agarose gel electrophoresis was conducted to determine the allelic distribution. The ApaI polymorphism within exon 9 of IGF2 and the RsaI polymorphism within exon 5 of H19 were employed to identify the allelic distribution of the IGF2 and H19 genes, respectively. Then the data for these genes in the molar and normal placenta tissues were compared. Results: The allelic distribution of IGF2 genes found in molar tissue were 21 (42.9%) aa (undigested), 10 (20.4%) ab (heterozygous) and 18 (36.7%) bb (digested), while in normal placenta tissue the values were 22 (22%) aa, 51 (51%) ab, and 27 (27%) bb. The allelic distribution of H19 in molar tissues was 8 (16.2%) aa (undigested), 8 (16.3%) ab (heterozygous) and 33 (67.4%) bb (digested) and in normal placental tissue was 16 (16%) aa, 36 (36%) ab and 48 (48%) bb in normal placenta tissue. These results were significantly different with P values of 0.001 and 0.037 for the allelic distribution of IGF2 and H19, respectively. Conclusions: Molar tissues showed significant differences of allelic distribution of IGF2 and H19 from normal placenta tissues.

Analysis of Short Tandem Repeat(STR) Locus F13B by Polymerase Chain Reaction in Korean (한국인에서 중합효소반응을 이용한 Short Tandem Repeat(STR)유전좌위 F13B분석)

  • Yong-Sik Kim;Woong Hur;Chang-Lyuk Yoon
    • Journal of Oral Medicine and Pain
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    • v.21 no.2
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    • pp.243-253
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    • 1996
  • In order to be utilized as a database in forensic identification and parentage test, allelic frequency and genotype distribution of short tandem repeat(STR) F13B locus was analysed by polymerase chain reaction in 210 Korean adults who are not related. The results were as follows. 1. 3 alleles and 56 genotypes of F13B locus were detected and heterozygosity value was 48.6% and allelic diversity value was 0.639 and the power of discrimination was 0.804. 2. The observed each alleles and allelic frequency was 8(0.069), 9(0.193), 10(0.738). In conclusion, the allelic frequency of STR F13B locus in the Korean is considered as an useful DNA allelic profile for forensic identification, but it should be used with several other STR locus to get definitive conclusion of analysis for individual identification and parentage testing.

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Beyond gene expression level: How are Bayesian methods doing a great job in quantification of isoform diversity and allelic imbalance?

  • Oh, Sunghee;Kim, Chul Soo
    • Journal of the Korean Data and Information Science Society
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    • v.27 no.1
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    • pp.225-243
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    • 2016
  • Thanks to recent advance of next generation sequencing techniques, RNA-seq enabled to have an unprecedented opportunity to identify transcript variants with isoform diversity and allelic imbalance (Anders et al., 2012) by different transcriptional rates. To date, it is well known that those features might be associated with the aberrant patterns of disease complexity such as tissue (Anders and Huber, 2010; Anders et al., 2012; Nariai et al., 2014) specific differential expression at isoform levels or tissue specific allelic imbalance in mal-functionality of disease processes, etc. Nevertheless, the knowledge of post-transcriptional modification and AI in transcriptomic and genomic areas has been little known in the traditional platforms due to the limitation of technology and insufficient resolution. We here stress the potential of isoform variability and allelic specific expression that are relevant to the abnormality of disease mechanisms in transcriptional genetic regulatory networks. In addition, we systematically review how robust Bayesian approaches in RNA-seq have been developed and utilized in this regard in the field.

THE APPLICATION OF STOCHASTIC ANALYSIS TO COUNTABLE ALLELIC DIFFUSION MODEL

  • Choi, Won
    • Bulletin of the Korean Mathematical Society
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    • v.41 no.2
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    • pp.337-345
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    • 2004
  • In allelic model X = ($\chi_1\chi$_2ㆍㆍㆍ, \chi_d$), M_f(t) = f(p(t)) - ${{\int^t}_0}\;Lf(p(t))ds$ is a P-martingale for diffusion operator L under the certain conditions. In this note, we can show existence and uniqueness of solution for stochastic differential equation and martingale problem associated with mean vector. Also, we examine that if the operator related to this martingale problem is connected with Markov processes under certain circumstance, then this operator must satisfy the maximum principle.

The Frequencies and Disease-Association of HLA Alleles in Bipolar Patients (양극성 장애환자에서 HLA 대립형의 빈도와 질병연관성)

  • Jun, Tae-Youn
    • Korean Journal of Biological Psychiatry
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    • v.1 no.1
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    • pp.79-87
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    • 1994
  • For the purpose of evaluating the human leukocyte antigen(HLA) disease-association with bipolar disorder, HLA class I and class II allelic frequencies were assessed in 37 bipolar patients and were compared to the data from normal population. HLA class 1 typing was performed with microlymphocytotoxicity method while class II(DRB1) genotyping with reverse dot blot hybridization and sandwich method. Statistical analysis consisted of relative risk, Haldane's modified relative risk, Fisher's exact test and Bonferoni's corrected P. The results were as follows : 1) Bipolar patients showed increased allelic frequency of HLA A3 which has statistical significance. 2) Allelic frequencies of HLA B7, B14 and B54 were higher, while those of B51 and B55 were lower in bipolar patients, but they were not statistically significant. 3) Both of increased frequencies of DR2 in bipolar patients and DR15 in normal controls had statistical significance. The results of the present study suggested that some of HLA allelic types might be associated with bipolar disorder. To clarify the genetic influence of HLA to bipolar disorder, we should do consecutive study of bipolar disorder with new information about HLA system including alleles.

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Genotype and Allele Frequency of the Short Tandem Repeat F13A01 Locus by Polymerase Chain Reaction in Korean (한국인에서 중합효소반응을 이용한 short tandem repeat 유전좌위 F13A01 유전자형 및 대립유전자 빈도)

  • Young-Su Lee;Chang-Lyuk Yoon
    • Journal of Oral Medicine and Pain
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    • v.21 no.2
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    • pp.317-329
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    • 1996
  • Allelic frequency and genotype distribution of short tandem repeat(STR) F13A01 locus was analysed by polymerase chain reaction, polyacrylamide gel electrophoresis and silver staining from human genomic deoxyribonucleic acid(DNA) was extracted from 205 unrelated Korean to be applied to forensic identification and parentage testing as a database. The results were as follows : 1. 5 alleles and 11 genotypes of F13A01 locus were detected and heterozygosity value was 62.0% and the observed each alleles and allelic frequency was 3.2(0.363), 4(0.105), 5(0.063), 6(0.466), 16(0.002). 2. The allelic diversity value was 0.639 and the power of discrimination was 0.804.3. Compared with observed number of alleles and allele frequency in ethnic difference, result was appeared to be similar to that of Japanese and Asians, while was appeared to be much different to that of Blacks and Caucasians in the observed number of alleles and frequency of allele 3.2, 5, 7. From the above result of this investigation, the allelic frequency of STR F13A01 locus in the Korean was considerd to be useful for individual identification and parentage testing as a database.

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Allelic Association of the Dopamine $D_2$ Receptor in Korean Alcoholics (한국인 알코올 중독 환자에서 도파민 $D_2$ 수용체의 대립유전자 연합)

  • Lee, Kang-Joon;Lee, Min-Soo;Kwak, Dong-Il
    • Korean Journal of Biological Psychiatry
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    • v.4 no.1
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    • pp.43-47
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    • 1997
  • The author attempted to examine the allelic association between the A1 allele of Dopamine $D_2$ receptor and alcoholism in Koreans. The allelic distribution of Taq I polymorphism of the $D_2$ dopamine receptor gene with alcoholism was examined in 67 Korean alcoholics and compared with 100 Korean controls. In alcoholics, the numbers of alcoholics with A1A1, A1A2 and A2A2 were 11(16.4%), 30(44.8%) and 26(38.8%) respectively and in controls with A1A1, A1A2 and A2A2 were 17(17.0%), 42(42.0%) and 41(41.0%), respectively. The prevalence of the A1 allele in alcoholics was 61.2% and 59.0% in controls. And the frequency of the A1 allele in alcoholics and controls were 0.39 and 0.38, respectively. There was not significant difference in the frequency of the A1 allele between alcoholics and controls. This data suggest that the A1 allele is not associated with alcoholism in Koreans. The author conclude that our data do not support an allelic association between the A1 allele at Dopamine $D_2$ receptor and alcoholism. Further systemized studies will be necessary to determine whether the role of allele of Dopamine $D_2$receptor is major effect gene or modifying effect gene in the pathogenesis of alcoholism.

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Genetic analysis of Leaves at a Different Stalk Positions in Flue - cured Tobacco (황색종 잎담배의 엽위별 엽형질 유전에 관한 연구)

  • Sin, Seung-Gu;Hong, B.H.;Ryu, I.S.
    • Journal of the Korean Society of Tobacco Science
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    • v.14 no.2
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    • pp.133-143
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    • 1992
  • The magnitude of additive effects generally parralled the magnitude of difference between parental means and appeared to be more independent from non - allelic interaction than dominance effects, whereas the magnitude of dominance effects were inflated by non-allelic interaction. Additive effects were significant for all characteristics observed and those of leaf width and leaf shape index of lugs, cutter and leaf and leaf width of tips were higher than dominance effects. Non-allelic gene interaction was expressed in leaf length of lugs, cutter and tips and heterosis of these characters were lower than the other characters.

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THE APPLICATION OF STOCHASTIC ANALYSIS TO POPULATION GENETICS MODEL

  • Choi, Won
    • Journal of applied mathematics & informatics
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    • v.23 no.1_2
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    • pp.455-460
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    • 2007
  • In allelic model $X=(x_1,\;x_2,\;{\cdots},\;x_d)$, $$M_f(t)=f(p(t))-{\int}_0^t\;Lf(p(t))ds$$ is a P-martingale for diffusion operator L under the certain conditions. In this note, we try to apply diffusion processes for countable-allelic model in population genetic model and we can define a new diffusion operator $L^*$. Since the martingale problem for this operator $L^*$ is related to diffusion processes, we can define a integral which is combined with operator $L^*$ and a bilinar form $<{\cdot},{\cdot}>$. We can find properties for this integral using maximum principle.

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.