새로운 반복단위에 의한 GABARB1 유전좌의 염기서열다형성과 한국인에서 대립 유전자의 빈도

이혜린,이혜승,송은섭,한길로,황적준 大韓法醫學會 1998 대한법의학회지 Vol.22 No.2

To determine allele frequency of GABARB1 Jcus in Korean, first, we sequenced each allele, which was amplified with primers that published before. We found mismatching between allele number and size of each allele when 'GATA' repeats are counted. The sequence revealed new 'GATA' repeat. So we had made new allele designation with total number of in 176 Korean people. The heterozygosity this locus was 0.716 and mean exclusion chance (MEC) and power of discrimination (PD) were 0.433 and 0.845, respectively. In this study, we emphasized necessity of sequencing of 2-3 alleles, which have same size before setting up allelic ladder.

Mitochondrial DNA Polymorphism in the Korean Population

이희석,황적준,박희경,이혜린,송은섭 大韓法醫學會 1996 대한법의학회지 Vol.20 No.1

한국인 100명을 대상으로 인체게놈에서 다형성이 가장 높다고 알려진 미토콘드리아 DNA(mtDNA)의 과변이 제1 및 제2부위를 중합효소반응으로 증폭한 후 염기서열을 결정하였고, 이들로부터 97개의 mtDNA형을 확인하였다. 이들 중 세 mtDNA형은 각각2명에서 관찰되었으며, 나머지 94개의 mtDNA형은 한 개체씩에서 관찰되었다. 이 염기서열들을 Anderson등(1981)이 보고한 참고서열과 비교하여 109개의 염기부위에서 변이를 관찰하였다. 이들 중 101 염기부위 (93.2%)는 이행, 9 염기부위(6.8%)는 전환형 치환이었다. 한국인 100명에서 관찰되는 각 mtDNA형의 빈도로부터 계산된 유전자 다양성 (gene diversity)은 0.99이고, 각 염기서열의 상호비교(pairwise comparison)로 구해진 평균 염기 다양성(nucleotide diversity)은 1.05이다. 한국인에게서 관찰되는 미토콘드리아 과변이 제1과 제2부위 연기서열의 분석으로 얻을 수 있는 개체의 식별력은 0.99이므로 이는 동일한 모계관계에 있지 않은 두 개체를 식별함에 매우 유용한 것으로 생각되었다.

親生子鑑別에서 多座位 探針으로 檢索되는 共有 遺傳子指紋의 意義

李羲碩,金希宣,南容碩,李惠麟,黃迪駿 大韓法醫學會 1995 대한법의학회지 Vol.19 No.1

Conventional paternity index and probability of paternity can not be calculated when probe that hybridize to multiple VNTR loci because alleles are not ascertained to specific loci. Therefore, an alternate method based upon the chance of band-sharing used to get paternity index and probability of paternity in this study using multi-locus pV47-2 probe. From 57 parentage cases of Korean pedigree we found 12.08, 11.86, and 12.31 of average DNA fingerprints present in mother, father and child., respectively. Among 614 DNA bands present in 57 children, 7 bands are not assignable to neither number of bands shared between nother and father is 1.71, with mean band-sharing coefficiency of 0.1798. All bands present in the child's pattern but absent in the mother's are 5.14 on average as obligator paternal band, but a child are transmitted 5, 47 from mother. In 10 non-parentage cases, however, a child shared bands of 1.20 on average with a putative father, whereas shared bands of 5.60 with a biological mother. In the paternity test of a child having 3 bands of obligatory paternal origin, paternity index(PI) and probability of paternity(PP) are calculated with the band0sharing coefficiency of 0.18 as 21.4, and 95.4%, respectively. These results suggest that RFLP analysis using multi-locus pV47-2 probe could identify with virtual certainty one particular man as the biological father of a child.

pV47-2 다좌위탐식자를 이용한 인체 게놈에서 다형성 유전좌위의 분리

남용석,이혜린,한길로,황적준 大韓法醫學會 1997 대한법의학회지 Vol.21 No.2

Two polymorphic loci, so- called FS106 and FS185, have been isolated from the human genome, using a multilocus probe pV47-2, which is extensively used in Korea for forensic investigation such as resolving paternity disputes. Among the several plaques selected from λ Fix-II genomic libraries, fourteen clones have been characterized. Restriction maps of 14 clones were constructed to define the flanking as well as repeat parts. The repeat-free flanking DNA fragments were tested for single locus specific polymorphism, and repeat containing DNA fragments were sequenced for the design of PCR primers. None of the repeat-free flanking DNA fragments was not shown any polymorphisms by RFLP analysis. The (GGT)??-rich sequences in most of repeat containing DNA fragments were identified by sequencing analysis. Most of repetitive sequences consists of major units of (GGT)??, but a regular repetition pattern can not be found in all clones. Two sets of primers designed from flanking sequences of repeat containing DNA fragments were shown length polymorphisms by PCR analysis, when tested in 50 unrelated individuals. Three and four alleles were detected at FS106 and 0.58 for FS185. In addition, two loci, FS106 and FS185, have been mapped on chromosome 5 and 3, respectively, by somatic cell hybrid analysis.

미토콘드리아 DNA 염기서열 분석법에 의한 가족관계의 규명

남용석,이희석,김희선,이혜린,황적준 大韓法醫學會 1995 대한법의학회지 Vol.19 No.1

The human mitochondrial DNA has two characteristics that make it possible to identify individuals and establish family relationships. First, it is haploid, being exhibited only maternal inheritance. Second, it is highly variable on the hypervariable control region of mitochondrial DNA. Taking advantage of two characteristics of mitochondrial DNA, individual relationships in dispute were identified by combining PCR amplification with direct mitochondrial DNA sequencing. Two persons who alleged the same maternal lineage were identical on the mitochondrial DNA sequences from 15,960 to 16,569 and from 1 to 533. Other two persons were identical on the mitochondrial DNA sequences from 16221 to 16390 each other. However, seven bases are different on the sequences from 16221 to 16390 between two groups,. Even though four persons are kinship, these results suggest that they should come from two different maternal lineage.

삼풍백화점 붕괴사고 희생자들의 신원확인을 위한 유전자검사

남용석,이혜린,김경훈,김희선,이희석,황적준 大韓法醫學會 1996 대한법의학회지 Vol.20 No.1

A DNA typing was performed to identify decomposed body remains from Sampoong Department mass disaster in June 1995. These body parts include bone fragment, skin tissue, hairs, from which the extracted DNAs were highly degraded. Two VNTR loci, 4STR loci, and amelogenin gene were chosen for AMP-FLP, and mtDNA sequence analysis for the confirmation of maternal relationship. The results of AMP-FLP of the selected polymorphic loci showed different sucess rate for PCR. DIS80 and D17S5 loci were amplified successfully form 64.5%, and 67% of the samples, respectively. HUMTHOI, HUMCSF1PO, and HUMTPOX loci were amplified successfully from 90.3% of the samples each. HUMACTBP2 and amelogenin was amplified in 87% of the cases submitted. THE DNA types of 33 remains were compared with those of 81 bereaved families consisting of 173 member. Thirty three samples were reduced to 28 in numbers according to results of the same DNA types. Among them, the DNA types of 15 remains matched with those of bereaved families and the identified remains were reconfirmed by amelogenin sex typing and mitochondrial DNA sequence analysis. The others were not identified a family by failures of PCR amplification or non-matching of DNA types. Also it is confirmed that one hair sample should be artificial by non-digestion of protease and another be animal bone by result of dot blotting with human Alu probe. Our results indicate that multiplex PCR system consisting of several STR loci like HUMCSF1PO, HUMTPOX, and HUMTHO1 is more effective for the identification of highly decomposed human remains from mass disaster.

韓國人에서 多重增幅 重合酵素反應으로 分析한 STRs 遺傳座位의 遺傳的 多樣性

권국환,이혜린,박종진,황적준,이희석,송은섭 大韓法醫學會 1996 대한법의학회지 Vol.20 No.1

The tetrameric STRs loci were studied in a population of Korean(n=223) for allele frequency distribution and applicability to identity and paternity testing, using multiplex PCR with electrophoresis of the PCR products in DNA sequencing gels and subsequent detection of allelic fragments by silver staining. The STRs loci analyzed were HUMCSF1PO, HUMTPOX, and HUMTHO1 ; in the Korean population, 9 alleles with their frequency range of 0.002-0.363 are detected in the HUMCSF1PO, 5 alleles with those of 0.020-1.480 in the HUMTPOX, and 6 alleles with those of 0.002-0.489 in the HUMTHO1. The highest observed heterozygosity is found at the locus HUMCSF1PO(0.709), those of the loci HUMTPOX and HUMTHO1 being 0.646 and 0.632, respectively. All loci meet Hardy-Weinberg expectations ; there are good agreement between the observed and expected values under Hardy-Weinberg equilibrium. Moreover, pairwise comparisons between loci show allelic independence for all the 3 loci comparisons. The power of discrimination (PD) determined for the locus HUMCSF1PO is 0.8896 (88.96%), that of the HUMTPOX is 0.8818(88.18%), and that for the HUMTHO1 is 0.8367(83.67%) ; the combined power of discrimination for the triplex is 0.9976(99.76%). The power of exclusion(PEX) calculated for the loci HUMCSF1PO, HUMTPOX, and HUMTHO1, being prior probability that a falsely accused father will be excluded, and 0.5173(51.73%), 0.4610(46.10%), and 0.5101(510.01%), respectively, and the cummulative power of exclusion(CPE) for all the three loci is 0.8726(87.26%). Thus, these allelic frequency data can be used to construct the database of the multiplex PCR-based DNA profile in the Korean population. The calculated parameter, "power of discrimination(PD)" and "power of exclusion(PEX)", show the informativeness of these loci for the determination of identity and relatedness of individuals.

韓國人의 HLA DQA1 遺傳座位에 대한 集團 遺傳學的 特性

남용석,김희선,이희석,이혜린,황적준 大韓法醫學會 1995 대한법의학회지 Vol.19 No.1

Using reverse dot blotting technique, genotype of HLA DQAl locus have been determined from 142 unrelated Korean individuals. Twenty genotypes were found from possible twenty one genotypes - the missing one was A2/A2 that had lowest expected frequency. All of known 6 alleles were found with each of its frequency being 15.1% for A1. 1, 16.6%for A1.2, 12.7% for A1.3, 11.6% for A2, 25.7% for A3 and 18.3% for A4. After X?-test(p>0.1), G-test(p>0.05), and by comparision of expected (0.82) and observed heterozygosity(0.81), the population was confirmed to be on the state of Hardy-Weinberg equilibrium. The gene diversity(0.82) of Korean population, which generally thought to be a group of single unity, actually was higher than that of most other populations. The pattern of alelic distribution was different from that of other populations, especially allele A1.3 which displayed heterogeneity between other goups with significance(p<0.01), as it turned out to have anthropological significance. After all, this HLA DQA1 system, even though its small number of alleles, having high degree of heterozygosity, was proven to be effective in individual identification, and paternity testing in Koean population.

[PD-0014] Development of Chinese cabbage (Brassica rapa) for TuMV viral resistance using CRISPR/Cas9-mediated gene editing

Hye-Eun Lee(Hye-Eun Lee),Ye-Rin Lee(Ye-Rin Lee),Do-Sun Kim(Do-Sun Kim),Eun Su Lee(Eun Su Lee),Koeun Han(Koeun Han) 한국육종학회 2022 한국육종학회 공동학술발표집 Vol.2022 No.-

[PF-0008] Genetic diversity and genome-wide association study in pumpkins (Cucurbita moschata) originated from East Asia

Eun Su Lee(Eun Su Lee),Ye-Rin Lee(Ye-Rin Lee),Oakjin Lee(Oakjin Lee),Hee-Bum Yang(Hee-Bum Yang),Hye-Eun Lee(Hye-Eun Lee),Koeun Han(Koeun Han),Do-Sun Kim(Do-Sun Kim) 한국육종학회 2022 한국육종학회 공동학술발표집 Vol.2022 No.-