• Title/Summary/Keyword: Alleles

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Genetic Polymorphisms of the Serum Protein Locus in Korean Native Goats (한국재래산양 혈청단백질 좌위의 유전적 다형현상에 관한 연구)

  • 김계웅
    • Korean Journal of Animal Reproduction
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    • v.19 no.3
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    • pp.235-241
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    • 1995
  • These experiments were carried out to find genetic polymorphisms of Serum protein like Pre-albumin(Pr), Albumin(Al) and Transferrin(Tf), and establish preservation of pure pedigree in Korean Native Goats(KNG). Their serum was collected and examined from the total of 74 KNG that raised in Tang Jin district, Chungnam-province. They were biochemically analysed by polyacrylamide gel(7.5%) electrophoresis(PAGE) in order to estimate the frequencies of genotypes and alleles existing on each trait locus. The results obtained in these experiments were summarized as follows ; 1. In the serum Pre-albumin(Pr) locus, the frequencies of genotypes for hetero AB and homo BB observed were 55.4%, and 44.6%, respectively. While homo AA was not found in the Pr locus. The frequencies of gene in PrA and PrB were 0.723 and 0.277, respectively. Accordingly, the Pr loci were assumed to be controlled by alleles PrA and PrB. 2. The frequencies of genotypes of homo BB and hetero AB detected in Albumin(Al) locus were 75.7% and 24.3%, respectively. However, AA type was not observed in the Al locus. The gene frequencies of AlA an AlB were 0.879 and 0.121, respectively. Also, the Al loci were considered to be controlled by alleles AlA and AlB. 3. The frequencies of genotypes for hetero AD and homo DD found in Transferrin (Al) locus were 79.7% and 20.3%, respectively. Whereas, homotype AA was not detected in this locus. The gene frequencies of TfA and TfD were 0.399 and 0.601, respectively. Therefore, the serum Tf loci were assumed to be controlled by alleles Tfa and Tfd.

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Polymorphisms of the Lipoprotein Lipase Gene of Red Seabream, Pagrus major (참돔의 lipoprotein lipase 유전자 다형성)

  • Jang, Yo-Soon;Hong, Kyung-Pyo;Noh, Choong-Hwan
    • Ocean and Polar Research
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    • v.26 no.4
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    • pp.551-557
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    • 2004
  • Polymorphism of the lipoprotein lipase (LPL) gene which plays an important role in regulation of lipid deposition was analysed in two red seabream (pagrus major) populations (KF4, cultured KORDI line, n=100 : JPN, imported from Japan, n=100). We amplified a DNA fragment (1,091 bp) including the exon 2 region of the LPL gene, and conducted PCR-RFLP analysis using MspI and AluI. The PCR products were also sequenced. Two alleles (A and B) were found in MspI digestion and Sve alleles (A, B, C, D and E) in AluI digestion. The sequenced data revealed four nucleotide substitutions including one transversion at the MspI recognition site (nt 2,235, $C{\rightarrow}10$) and three transitions at the AluI recognition sites (nt 1,721, $A{\rightarrow}G;$ nt 2,319, $C{\rightarrow}T;$ nt 2,319, $T{\rightarrow}C$). Among them, substitutions at the nt 2,235 and 2,319 sites which are located in the exon 2 were proved to be silent point mutations. MspI polymorphism resulted in 3 genotypes, and the allele frequency was significantly different between the two fish populations, KF4 and JPN. In the case of AluI polymorphism, the 5 alleles (A, B, C, D, E) comprised 12 genotypes of the 5 alleles. KF4 population, alleles D and I were specific to the LPL gene Polymorphisms would be useful DNA markers for red seabream population.

Plasmodium falciparum Genotype Diversity in Artemisinin Derivatives Treatment Failure Patients along the Thai-Myanmar Border

  • Congpuong, Kanungnit;Hoonchaiyapoom, Thirasak;Inorn, Kornnarin
    • Parasites, Hosts and Diseases
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    • v.52 no.6
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    • pp.631-637
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    • 2014
  • Genetic characteristics of Plasmodium falciparum may play a role in the treatment outcome of malaria infection. We have studied the association between diversity at the merozoite surface protein-1 (msp-1), msp-2, and glutamate-rich protein (glurp) loci and the treatment outcome of uncomplicated falciparum malaria patients along the Thai-Myanmar border who were treated with artemisinin derivatives combination therapy. P. falciparum isolates were collected prior to treatment from 3 groups of patients; 50 cases of treatment failures, 50 recrudescences, and 56 successful treatments. Genotyping of the 3 polymorphic markers was analyzed by nested PCR. The distribution of msp-1 alleles was significantly different among the 3 groups of patients but not the msp-2 and glurp alleles. The allelic frequencies of K1 and MAD20 alleles of msp1 gene were higher while RO33 allele was significantly lower in the successful treatment group. Treatment failure samples had a higher median number of alleles as compared to the successful treatment group. Specific genotypes of msp-1, msp-2, and glurp were significantly associated with the treatment outcomes. Three allelic size variants were significantly higher among the isolates from the treatment failure groups, i.e., $K1_{270-290}$, $3D7_{610-630}$, $G_{650-690}$, while 2 variants, $K1_{150-170}$, and $3D7_{670-690}$ were significantly lower. In conclusion, the present study reports the differences in multiplicity of infection and distribution of specific alleles of msp-1, msp-2, and glurp genes in P. falciparum isolates obtained from treatment failure and successful treatment patients following artemisinin derivatives combination therapy.

Characterization of BoLA-DRB3.2 Alleles in Hanwoo (Korean cattle) by Sequence Based Typing (SBT)

  • Jeong, H.J.;Bhuiyan, M.S.A.;Lee, J.S.;Yu, S.L.;Sang, B.C.;Yoon, D.;Jeon, J.T.;Lee, J.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.12
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    • pp.1791-1797
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    • 2007
  • A study was conducted with 70 Hanwoo (Korean cattle) for genotyping bovine leukocyte antigen (BoLA)-DRB3.2 gene by using the polymerase chain reaction (PCR) and sequence based typing (SBT). Two-step PCR was carried out for amplifying a 284 bp fragment of the target gene and the PCR products were digested with three restriction enzymes namely RsaI, BstYI and HaeIII. Seventeen alleles were detected with frequencies ranging from 1.43 to 18.57% and one (x'aa) of these alleles was identified as a new allele that has not been reported before. The frequency of the new x'aa allele identified in this breed was 12.86%. In addition, the seven most frequently observed alleles (DRB3.2 *10, *15, *16, *26, *27, *54 and x'aa) accounted for 74.28% of the alleles in this population. The phylogenetic tree showed that the BoLA-DRB3.2 allele sequences of Hanwoo were shared with other Bos taurus breeds and no specific clade for Hanwoo was identified. It indicates high heterogeneity of the BoLA-DRB3 gene in this population and may give some ideas for breeding animals having better disease resistance.

Determination of HLA-A*02 Alleles Using Nested PCR-SSP in Korean Population

  • Lee, Kyung-Ok;Heo, Jeong-Ho-Ho;Kim, Hye-Jin;Lee, Eun-Mi;Hong, Sung-Hoi;Kim, Yoon-Jung
    • Animal cells and systems
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    • v.1 no.1
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    • pp.129-134
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    • 1997
  • HLA-A2 is one of the most diversified HLA-class I antigen with 17 subtypes so far identified at the molecular level. HLA-A*02 subtyping has significant implications on the tissue typing for organ and bone marrow transplantations. Recently, DNA-based typing methods have been successfully applied to the elucidation of HLA gene polymorphisms. In the present study, HLA-A*O2 genotyping was established by using nested polymerase chain reaction-sequence specific primers (PCR-SSP) and distribution of A*O2 alleles were determined in Korean individuals. Genomic DNA prepared from four B-lymphoblastoid cell lines and lymphocytes from serologically defined 48 HLA-A2 Korean individuals by phenol/chloroform extractions was typed. The results of the four B-lymphoblastoid cells were consistent with the previous data typed by PCR analysis. Five A*O2 alleles-A*0201, A*0203, A*0206, A*0207 and A*0210-were commonly observed in a total of 17 A*02 alleles. Of these, A*0207 (f=49.0%) was the most frequent allele in Korean population. A*0206 (f=28.3%) and A*0201 (f=17.0%) were also found frequently while A*0203 and A*0210 types were observed in less than 5%. In conclusion, the high level of discrimination for HLA-A*O2 alleles will prove useful and informative in the study of transplant survival, and may identify the importance of allelic differences not readily detectable by serology on host and donor compatibility.

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Genetic Polymorphisms in Plasmodium vivax Dihydrofolate Reductase and Dihydropteroate Synthase in Isolates from the Philippines, Bangladesh, and Nepal

  • Thongdee, Pimwan;Kuesap, Jiraporn;Rungsihirunrat, Kanchana;Dumre, Shyam Prakash;Espino, Effie;Noedl, Harald;Na-Bangchang, Kesara
    • Parasites, Hosts and Diseases
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    • v.53 no.2
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    • pp.227-232
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    • 2015
  • Genetic polymorphisms of pvdhfr and pvdhps genes of Plasmodium vivax were investigated in 83 blood samples collected from patients in the Philippines, Bangladesh, and Nepal. The SNP-haplotypes of the pvdhfr gene at the amino acid positions 13, 33, 57, 58, 61, 117, and 173, and that of the pvdhps gene at the positions 383 and 553 were analyzed by nested PCR-RFLP. Results suggest diverse polymorphic patterns of pvdhfr alone as well as the combination patterns with pvdhps mutant alleles in P. vivax isolates collected from the 3 endemic countries in Asia. All samples carried mutant combination alleles of pvdhfr and pvdhps. The most prevalent combination alleles found in samples from the Philippines and Bangladesh were triple mutant pvdhfr combined with single mutant pvdhps allele and triple mutant pvdhfr combined with double wild-type pvdhps alleles, respectively. Those collected from Nepal were quadruple mutant pvdhfr combined with double wild-type pvdhps alleles. New alternative antifolate drugs which are effective against sulfadoxine-pyrimethamine (SP)-resistant P. vivax are required.

Microsatellite Markers for Non-Invasive Examination of Individual Identity, Genetic Variation, and Population Differentiation in Two Populations of Korean Long-Tailed Goral (Naemorhedus caudatus)

  • Kim, Baek-Jun
    • Proceedings of the National Institute of Ecology of the Republic of Korea
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    • v.3 no.4
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    • pp.191-198
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    • 2022
  • Natural habitats of the Korean long-tailed goral (Naemorhedus caudatus) have been fragmented by anthropogenic activities in South Korea in the last decades. Here, the individual identity, genetic variation, and population differentiation of the endangered species were examined via the multiple-tube approach using a non-invasive genotyping method. The average number of alleles was 3.16 alleles/locus for the total population. The Yanggu population (1.66) showed relatively lower average number of alleles than the Inje population (3.67). Of the total 19 alleles, only seven (36.8%) alleles were shared by the two populations. Using five polymorphic out of six loci, four and six different goral individuals from the captive Yanggu (n=24) and the wild Inje (n=28) population were identified, respectively. The allele distribution was not identical between the two populations (Fisher's exact test: P<0.01). A considerably low migration rate was detected between the two populations (no. of migrants after correction for size=0.294). Additionally, the F statistics results indicated significant population differentiation between them, however, quite low (FST=0.327, P<0.01). The posterior probabilities indicated that the two populations originated from a single panmictic population (P=0.959) and the assignment test results designated all individuals to both populations with nearly equal likelihood. These could be resulted from moderate population differentiation between the populations. No significant evidence supported recent population bottleneck in the total Korean goral population. This study could provide us with useful population genetic information for conservation and management of the endangered species.

Clinical Application of ABO Genotyping: 10 Years' Experience in the Southeastern Korea

  • Sae Am Song;Eun-Kyung Yu;Seung Hwan Oh
    • Journal of Interdisciplinary Genomics
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    • v.6 no.1
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    • pp.6-13
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    • 2024
  • Background: ABO typing is crucial for ensuring safe blood transfusion and is commonly performed by examining antigen-antibody interactions. Determining ABO blood group can be difficult when dealing with ABO discrepancy and ABO subgroups. ABO genotyping may be necessary to resolve ABO discrepancy. ABO genotyping primarily involves direct sequencing, with the possibility of using other molecular methods. Methods: PCR and direct sequencing of exons 6 and 7 were performed for total 108 samples from June 2010 to December 2019. Also, other molecular methods including cloning sequencing and short tandem repeat analysis were carried out just in case. Sequencing data were compared with allele information of blood group antigen mutation databases. Results: The predominant causal allele among 108 ABO discrepant cases was cis-AB01, with 28 cases. This was followed by rare ABO alleles (B309, B306, A204, Bw29, and Ax01) with 14 cases, and blood chimera with 5 cases. Five new alleles were identified during the investigation. Conclusion: This study reaffirms that cis-AB is the most common cause of inherited ABO discrepancies, and cis-AB01 is the most prevalent cis-AB allele in the Korean population, also in the southeastern region. In addition, we discovered five new alleles and five blood chimeras by adopting sequencing analysis and additional molecular techniques to resolve ABO discrepancies, which provide regional data on rare alleles. This study presents rare and new ABO alleles and blood chimeras identified over a ten-year period at two major university hospitals in Southeastern Korea.

The Effects of Monoamine Oxidase A CA Repeat Polymorphism on Behavioral Trait and Clinical Characteristics in Korean Male Alcoholics (단가아민 산화제 A CA 반복 유전자 다형성이 한국 알코올의존 남자환자의 행동특성과 임상양상에 미치는 영향)

  • Lee, Jung-Sik;Yang, Byung-Hwan;Lee, Kyung-Mee;Kim, Hong-Kwan;Kim, Yong-In;Chai, Young-Gyu
    • Korean Journal of Biological Psychiatry
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    • v.7 no.1
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    • pp.64-73
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    • 2000
  • There are several candidate genes in genetic study of alcoholism. Among them, allelic associations have been reported between MAOA CA repeat polymorphism and alcohol dependence, recently. And also, several studies have been investigated genotype-phenotype relationships between MAOA CA repeat polymorphism and clinical manifestations. The authors tried to identify differences in allelic frequency of MAOA CA repeat polymorphism between alcohol dependence and controls, and in behavioral trait and clinical characteristics according to MAOA CA repeat polymorphism. We also tried to investigate genotype-phenotype relationships between MAOA CA repeat polymorphism and behavioral trait such as aggression. We examined 49 male patients with alcohol dependence(DSM-IV) who had been admitted in Yong-In Mental Hospital from June 1st 1998 to October 31th 1998. We performed semistructured interview for demographic and clinical characteristics. Self-report questionnaire for BDHI(Buss-Durkey Hostility Inventory) was given to all subject at least 4weeks later after admission. Using polymerase chain reaction and polyacrylamide gel electrophoresis, MAOA CA repeat polymorphism were observed in 52 male controls and 49 male patients with alcohol dependence. We devided alcoholic patients into two groups according to allelic length of MAOA CA repeat polymorphism ; alcoholics with short alleles(${\leq}$119bp, N=20) and alcoholics with long alleles(${\geq}$123bp, N=29). T-test, ${\chi}^2$-test and Fisher exact probability test were used for statistical analysis. There were no significant differences in frequency of each allele and short and long alleles of MAOA CA repeat polymorphism between alcoholics and controls. But there were significant differences in clinical symptoms and behavioral trait between alcoholics with short and long alleles. In clinical symptoms, alcoholics with long alleles used alcohol more frequently during one month before admission, had much more maximum amount of beer drinking and reported withdrawal seizure more frequently than with short alleles. In contrary, alcoholics with short alleles expressed depressed mood and guilty feeling more frequently and wanted complete abstinence as a treatment goal more frequently than with long alleles. In behavioral trait, alcoholics with long alleles had higher total aggression score and showed much more self-assertive attitude(subscale of expression of aggression) than with short alleles. Allelic length of MAOA CA repeat polymorphism was correlated with self-assertive attitude and accounted for 9% of the variance of self-assertive attitude. And also, predictable variables of allelic length of MAOA CA repeat polymorphism were drinking frequency and self-assertive attitude. Our findings suggest that MAOA CA repeat polymorphism may provide some behavior modifying role especially in self-assertive attitude and indirect symptom modifying role in Korean male alcoholics.

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Genetic Studies of Oenothera odorata Populations in Korea Based on Isozyme Analysis

  • Huh, Hong-Wook
    • Journal of Plant Biology
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    • v.39 no.3
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    • pp.223-229
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    • 1996
  • The genetic variation in Korean evening primorse (Oeothera odorata L.) populations was examiend to estimate the level of allozyme variation within populatons using starch gel electrophoresis. 7 of 13 loci (Adh, Est-1, Est-2, Mdh-2, Pgd-2, Pgm-1, and Idh) revealed (Ps=43.2%) were polymorphic. The mean number of alleles per locus (A) and polymorphic locus (Ap) for populations were 1.64 and 2.46, respectively. The effective number of alleles (Aep) within populations relatively was low ranging from 1.08 to 1.22 with a mean of 1.14. Within populations, the mean number of allele per polymorphic loci (Ap) was 2.46, the mean number of alleles per locus (A) was 1.64, and the mean genetic diversity was 0.093. About 2.7% of the total allozyme diversity resided among populations (Mean GST=0.0274). FIS, a measure of the deviation from random mating within 13 populations, was relative low (mean FIS=0.03636). The indirect estimate of gene flow, based on the mean GST, was high (Nm=8.88). Estimates of gene flow were consistent with low levels of genetic differentiation among populations.

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