1.Detection of a Hybrid A int Allele by PCR-RFLP.
Sung Ha KANG ; Young Chul KIM ; Mina HUR ; Dong Hun SHIN ; Hyoun Chan CHO ; Kyu Man LEE ; Yasuo FUKUMORI
Korean Journal of Blood Transfusion 2004;15(2):153-161
No abstract available.
Alleles*
2.Analysis of the Significance in the Forensic Application of the STR CSF1PO, STR TPOX, STR TH01 Loci.
Korean Journal of Legal Medicine 1998;22(1):40-49
Alleles and genotype frequencies and its distribution pattern for three STR loci; CSF1PO, TPOX, and TH01 were analyzed for the evaluation of the useful-ness of STR loci in the individual identification. STR CSF1PO locus showed 7 allele types and 18 genotypes. However, 3 of 7 allele types are related to 84.3% of population and 4 of 18 genotypes are related to 67.6% of population. Heterozygosity is 70.6%. STR TPOX locus showed 5 allele types and 12 genotypes. However, 2 of 5 llele types are related to 81.92% of population and 3 of 12 genotypes are related to 78.4% of population. Heterozygosity is 65.7%. STR TP01 locus showed 5 allele types and 13 genotypes. However, 2 of 5 llele types are related to 78.9% of population and 3 of 13 genotypes are re-lated to 71.6% of population. Heterozygosity is 68.6%. From the above results, CSF1PO, TPOX, and TH01 loci have small numbers of allele types and genotypes. Many population is included into the specific allele types and genotypes. So, statistical analysis of allele and genotype frequency may have risks of misinterpretation of negative results to positive results. To remove the statistical errors, more than three STR loci have to be used in individual identification and the distribution pattern of the frequency of allele types and genotypes have to be analyzed in the STR loci.
Alleles
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Genotype
4.New Allele Designatin of HUMACTBP2.
Tai Wan KOO ; Yong Woog LEE ; Gil Ro HAN ; Juck Joon HWANG
Korean Journal of Legal Medicine 1998;22(2):1-4
Allele designation for HumACTBP2 is not yet established while many authors introduced different kinds of designation methods. Here, we are introducing a new allele designation method. We used allelic ladder as an internal size standard on behalf of GS-500ROX and designation of each allele was followed recommendation of DNA commission of International Society of Forensic Hematogenetics(ISFH). This method is considered more reasonable for complex repeat loci like HumACTBP2 than other methods that published before.
Alleles*
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DNA
5.Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea
Dahae YANG ; Boram KIM ; Da Young SONG ; Tae Yeul KIM ; Man Jin KIM ; Sung Im CHO ; Hyungsuk KIM ; Moon Woo SEONG ; Sung Sup PARK
Annals of Laboratory Medicine 2019;39(6):599-601
6.Two A(weak)B Cases with Aw10 Allele Separated by Allele-specific Sequencing.
Eun Jeong WON ; Duck CHO ; Myung Geun SHIN ; So Yong KWON ; Nam Sun CHO ; Dong Wook RYANG
Korean Journal of Blood Transfusion 2011;22(1):59-64
We separated an Aw10 allele by allele-specific sequencing in two Aw10/B101 samples that had the AweakB phenotype. Two samples with the A102/B101 genotype were also tested as a control. The reverse primers using position 930 at exon7 were designed for allele-specific sequencing. The differential positions were a total of 52 points for distinguishing the A-allele from the B-allele. Although overlaps with another haplotype allele that showed a minor chromatographic peak were observed in almost all the points, the specific allele-separation rate was 100% (52/52) by assessing the dominance in the chromatographic peak height. Based on the separation rate in the two cases with Aw10/B101 and the two AB controls, allele-specific sequencing is a convenient and reliable method for the separating the A-allele and B-allele in a clinical laboratory.
Alleles
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Genotype
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Haplotypes
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Phenotype
7.Optimixation of per for amplification of D1S80 (PMCT118) allelles by using vent DNA polymerase.
Journal of Medical Research 2001;16(3):20-23
D1S80 locus is highly polymorphic and has been used worldwide as an important marker for forensic, medical analysis and paternity tests. Vent DNA Polymerase is a high-fidelity thermophilic DNA polymerase. The fidelity of Vent DNA polymerase is 5 to 15 folds higher than that observed for Tag DNA polymerase. This high fidelity derives in part from an integral 3’-5’ proofreading exonuclease activity in Vent DNA polymerase. Greater than 90% of the polymerase activity remains after one hour incubation at 95oC. Because of these advantages, we want to apply Vent DNA polymerase for the amplification of D1S80 alleles by PCR. Our study showed that PCR condition for Vent DNA polymerase are rather different than for Tag DNA polymerase. The amplification of D1S80 alleles with Vent DNA polymerase is optimal with the following parameters: 1. A final concentration of MgSO4 in PCR mixture of 4 mM. 2. An annealing temperature for the specific D1S80 primers 68oC. 3. A final concentration of dNTPs of 200mcM.
DNA polymerase
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Alleles
8.Change of Surname?: An application of Y-STR Haplotyping.
Ki Min SEONG ; Seong Yeon YOO ; Jung Ho HWANG ; Nam Soo CHO ; Seong Ho KIM ; Young Shik CHOI
Korean Journal of Legal Medicine 2008;32(1):68-71
Y-STR haplotyping is a powerful forensic and anthropological tool for identifying male lineages. We used high-resolution Y-STR haplotyping to evaluate the possibility of an ancestral relationship between two individuals with the different surname. Of the 17 Y-STRs genotyped, 16 had identical alleles in two individuals, except for an unambiguously sporadic mutation (one-step mutation) at DYS385 locus. The common allele 11.1 (U3Ains) at DYS439 locus was also observed in these two individuals. Sequencing analysis of these alleles of two samples demonstrated an A insertion at base 3 upstream from the repeat region's first GATA motif. These findings suggested that two individuals were paternally related, even if male individuals live with different surname.
Alleles
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Haplotypes
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Humans
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Male
9.An Association Study of COMT Gene Polymorphism with Korean Schizophrenics.
En Sook SONG ; Young Gyu CHAI ; Byung Hwan YANG ; Kang Kyu PARK ; Dong Yul OH ; Gil Sook KIM ; Yu Sang LEE ; Eun Soog AN ; Jong Won KIM ; Ihn Geun CHOI
Journal of the Korean Society of Biological Psychiatry 1998;5(2):210-214
An association study with Korean schizophrenic patients(N=84) and normal controls(N=87) was performed to find the relationship between catechol-o-methyltransferase(COMT) gene polymorphism and schizophrenia using polymerase chain reaction-restriction fragment length polymorphism. When we compared the allele and genotype frequencies of Bg/I COMT gene polymorphism in schizophrenics and normal controls, there was no significant difference between two groups. Our results do not support an association between the Bg/I polymorphism of COMT gene and schizophrenia.
Alleles
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Genotype
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Schizophrenia
10.Not Available.
Lie ting SUN ; Wen ting WANG ; Man CHEN ; Fang WANG ; Ying LIU
Journal of Forensic Medicine 2021;37(5):756-758