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한국인 집단의 HLA-DQχ 대립유전자와 유전자형 빈도
선문숙,한면수,박기원,이양한,최상규,강순자 이화여자대학교 생명과학연구소 1993 생명과학연구논문집 Vol.4 No.-
Allele and genotype frequencies at the HLA-DQa locus were determined by the use of PCR amplification and non-radioactive allele specific oligonucleotides(ASOs). The probes defined six alleles and 21 genotypes in a dot-blot format. A total of 206 individuals were typed using this method. The HLA-DQa genotype frequencies did not deviate significantly from Hardy-Weinberg equilibrium. The allele frequencies ranged from 5.3% to 33.7% and the frequency of DQ A3 allele was highest(33.7%). The observed frequency of DQa 3-4 genotype was highest(13.6%). The allelic diversity value was 0.79. The heterozygosity at the HLA-DQa locus was 83.5% These population data will allow the use of the HLA-DQa marker in paternity determination and the analysis of individual identity in forensic samples.
Short Tandem Repeat(STR)System HUMCYAR04 in Korean Population
강순자,선문숙,황선경 한국유전학회 1996 Genes & Genomics Vol.18 No.4
A genetic population study for the tetrameric STR, the HUMCYAR04 in the Korean population was carried out. Typing for the HUMCYAR04 of 236 unrelated Koreans was done by PCR and PAGE-silverstaining. Eight alleles were observed and their frequencies were in the range of 0.0042-0.3491. Allele 5, 6, and 10 were higher frequencies than other alleles. No significant deviations from Hardy-Weinberg equilibrium could be observed in the genotype distribution. The observed heterozygosity was 0.7426 and the PIC value was 0.7268. The power of discrimination (PD) was 0. 8906 and the chance of exclusion (CE) was 0.4809. There is no significant difference in the allele frequencies at the HUMCYAR04 locus between Koreans and Asians. However, the Koreans did slightly differ for the allele frequencies when compared with Mexican-Americans, Blacks, and Caucasians.
한국인 집단에서 형광검출에 의한 STR(short tandem repeat)마커의 DNA 형 분석
강순자,최상규,선문숙 한국유전학회 1995 Genes & Genomics Vol.17 No.1
The short tandem repeat (STR) markers display considerable polymorphisms and provide the complementary information. This paper represented the analysis of a multilocus genotype using fluorescently tagged primers for eleven dimeric STR markers with (CA)n repeats (D5S416, D18S66, D18S70, D20S100, D20S106, D20S115, D20S119, D21S265, D21S266, D22S274, and D22S283). The number of alleles observed, ranging from 6 to 14 and the most common allele frequency was generally low showing below 0.5 excluding D20S115. Although deviations from Hardy-Weinberg equilibrium were noted at four markers (D5S416, D18S70, D20S106, and D22S274), genotype data from the others were overall consistent with Hardy-Weinberg equilibrium. The heterozygosities of the markers showed ranging from 0.547 to 0.816 and ten markers excluding D20S115 showed heterozygosities above 0.7. These STR markers were highly polymorphic, with the polymorphism information content (PIC) values ranging from 0.494 to 0.791 and nine STR markers showing PIC above 0.7. Consequently, the STR genotyping by the automated analysis of fluorescently amplified products will provide the high informativeness and the useful information for the genetic linkage mapping.
The PCR/FLP Analysis of 3 STR Loci and Frequency Distribution in Korean Population
한면수,최상규,선문숙 한국유전학회 1995 Genes & Genomics Vol.17 No.4
We have analysed the allelic frequency distribution at the short tandem repeat (STR) to the CD4, TH01, vWA (vWA31A) loci in Human DNA by PCR/FLP techniques. In a sample of 200 unrelated Koreans, the CD4 locus demonstrated a heterozygosity of 43 with 5 alleles and 7 genotypes. The allelic diversity value and the PD of CD4 were found to be 0.44 and 0.61 respectively. The TH01 locus demonstrated a heterozygosity of 70.3% with 5 alleles and 14 genotypes. The allelic diversity value and the PD of TH01 were found to be 0.71 and 0.80 respectively. The vWA locus demonstrated a heterozygosity of 79.9% with 7 alleles and 23 genotypes. The allelic diversity value and the PD of vWA were found to be 799 and 0.97 respectively. Comparison of the result an allele frequencies with other published databases showed that their distributions were not similar. Observed heterozygosity was similar to that reported in other population studies but significantly higher than expected. These population data will allow the use of the 3 STR marker in paternity determination and the analysis of individual identity in forensic samples
강순자,최상규,선문숙 한국유전학회 1995 Genes & Genomics Vol.17 No.4
The polymorphisms of genetic markers based on the variable number of repeat units are displaying considerable polymorphisms and providing the complementary information. In the present study, twenty-one short tandem repeat (STR) markers based on (dC-dA)n (dG-dT)n dinucleotide repeat sequences were analyzed for their polymorphisms in the Korean population using fluoroscently labeled primers and automated sequences with Genescanner software. The potential usefulness of these polymorphisms for the determination of individual identification was calculated from the allele frequencies of twenty-one STR markers. The most common genotype frequency combined of twenty-one markers was 6.09×10^(-11) and the least common genotype of a random match (PM) combined of the twenty-one markers was very low with 7.48×10^(-24). The discrimination power was high showing above 0.8 with the exception of D20S115 (0.737) and was the highest showing 0.954 in D12S85 and D20S117. The STR genotyping by the fluorescence-based system significantly facilitates large-scale databasing for the individual identification. Therefore we can obtain the high discrimination power for the individual identification within a short time frame.