The objective of this study was to assess the genetic polymorphisms of the candidate genes, RANTES -28C/G, RANTES -403G/A, and CD14 -159C/T, for asthma within the Korean population. 85 asthma patients and 550 non-asthma control DNA samples were genotyped via the use of PCR-based and restriction digestion assays. The frequencies of the RANTES -28G gene were 0.18 and 0.17 in the asthma and control groups, respectively. The frequencies of the RANTES -403 A gene were 0.36 and 0.40 in the asthma and control groups. The estimated haplotype frequency for RANTES -28 and RANTES -403 was also evaluated. The haplotype distributions between the asthma and normal control groups were found to be similar in this study (P=0.686). The frequency of haplotype I (-28C, -403G) was determined to be higher than the other 3 haplotypes in the Korean, Caucasian, and Japanese populations. The frequencies of CD14 -159C were determined to be 0.41 and 0.40 in the asthma and control groups, respectively. No significant differences were determined to exist with regard to RANTES gene polymorphisnLs -28C/G (P=0.357), -403G/A (P=0.518) and CD14 -159C/T (P=0.829), between the asthma and control groups within the Korean population. We confirmed that the RANTES and CD14 promoter polymorphisms were associated with asthma in some studies, but were not in others, including the study involving the Korean population. This may be attributed to the genetic heterogeneity occurring among different ethnicities.
The joint structure of a transducer horn-holder assembly for a wire bonder was examined through finite element contact analysis. Three-dimensional modeling and analysis was carried out to survey the internal physics of this structure and to verify the accuracy of a proposed computation relative to measurement. After validation, a two-dimensional, model was built to conduct parametric studies and improve the efficiency and speed of the computation. Several factors such as boundary conditions, modeling boundary, and mesh density, were considered to obtain consistency with the three-dimensional analysis. Arc angle and the position of each holder boss were chosen as design parameters. A designed computation approach was applied for efficiency in computation. As a result, a guideline for holder boss design was suggested, and the main factors and their influence on stress concentration in the transducer horn were surveyed.
Allele frequencies at microsatellite loci D14S299 and CSR were analysed by polymerase chain reaction from Korean subjects. According to repeat number of microsatellite, nine alleles were identified at D14S299 locus and PCR amplified fragments ranged from 299 to 331 bps in size. The most frequent allele in this study was allele 30 (44.9%) followed by allele 31 (25.4%) and few more alleles. By the results of statistical analysis, the heterozygosity of D14S299 was 0.710, and the polymorphism information content (PIC) and the power of discrimination (POD) were 0.670 and 0.880, respectively. The genotype distribution and allele frequency of D14S299 microsatellite in Korean population were similar to those of Japanese and Chinese populations.Genes involved in cellular stress response (CSR) possess various numbers of dinucleotide (CA) repeats. Frequencies of two most commonly occurring alleles, a2 and a3, were 31.2% and 31.5%, respectively. Allele frequencies agreed with the Hardy-Weinberg expectation. The observed heterozygosity was 0.69, and the values of PIC and POD were 0.730 and 0.866, respectively. We found D14S299 and CSR were genetically polymorphic in the Korean population and useful microsatellite markers for forensic practices.
A restriction fragment length polymorphism (RFLP) of calcitonin receptor (CTR),with Alu I enzyme was analyzed in the Korean population. Using the polymerase chain reaction and Nusieve agarose gel electrophoresis, we-examined the genotype distribution and allele frequency from 200 individuals in normal and in osteoporosis patients, respectively. There was no T/T homozygote, but only two genotypes of CIC homozygote and T/C heterozygote were detected in the present study. The frequency of allele C was 0.89 in the normal group and its frequency was 0.94 in the osteoporosis one. No deviation from the Hardy-Weinberg equilibrium was observed between normal individuals and osteoporosis patients. The genotype distribution at CTR locus in Koreans was similar to that of Japanese, while that in Italian was significantly different. We found the significant difference of genotype distribution at CTR locus in different ethnic populations. These results may be useful in the genetic study of ethnic populations.
From 27 Korean patients with lung carcinoma, we analyzed microsatellite instability and loss of heterozygosity at four loci, D3S1228, D3S1029, D3S1038 and THRB, which were located on 3p. As a result, 7 of 27 carcinoma patients with microsatellite instability and 13 of 27 individuals with loss of heterozygosity were found. Microsatellite instability and loss of heterozygosity appeared frequently at THRB (18.5%) and D3S1038 (29.6%), respectively. Microsatellite instability was found in 7 of 20 squamous cell carcinomas (35.0%) but not in adenocarcinomas. Loss of heterozygosity was found in 12 of 20 squamous cell carcinomas (60.0%) and 1 of 5 adenocarcinomas (20.0%). We found microsatellite instability in 3 of 13 cancer patients at stage I (23.1%), in 2 of 5 ones at stage II (40.0%) and 2 of 8 ones at stage III (25.0%). Loss of heterozygosity was detected in 8 of 13 individuals at stage I (61.5%), in 1 of 5 ones at stage II (20.0%) and 4 of 8 ones at stage III (50.0%). Microsatellite instability was found in 3 of 12 smokers (25.0%) and 4 of 15 nonsmokers (26.7%). Loss of heterozygosity was found in 7 of 12 smokers (58.3%) and 6 of 15 nonsmokers (40.0%). In conclusion, the microsatellite instability and loss of heterozygosity at D3S1228, D3S1029, D3S1038 and THRB loci are significantly extensive in non-small cell lung carcinomas from Korean patients.
A polymorphic dinucleotide (CA) repeat sequence at calcitonin locus was analyzed in a Korean population. Using the polymerase chain reaction and polyacrylamide gel electrophoresis. we examined the allele and genotype frequency from 299 normal individuals and 200 osteoporosis patients. Five alleles were detected and allele frequencies of A2 and A6 were 0.60 and 0.32. respectively, in the normal individuals. The observed heterozygosity of the normal group was 0.42. Allele frequency was similar to that of a Japanese population but the heterozygosity was lower than that of Japanese. The allele frequency of A6 in the normal sample (0.32) was higher than that in the osteoporosis one (0.23). The observed heterozygosity in the osteoporosis group was 0.48. It is concluded that there is significant difference in the allele frequency and genotype distribution between normal individuals and osteoporosis patients in the Korean population.
We analyzed 27 Korean non-small cell lung carcinomas (NSCLC) for microsatellite instability and loss of heterozygosity (LOH) in the four loci, such as Interferon alpha, D9S171. D9S126, and D9S169 on the short arm of chromosome 9. We observed microsatellite instability at one or more loci in 12 of 27 tumors analyzed, and LOH at one or more loci in 6 of 27 tumors. The microsatellite that showed instability most frequently in these tumors was D9S126 (22.2%). The microsatellite that showed LOH most frequently in these tumors was D9S171 (18.5%). Microsatellite instability was found in 9 (45.0%) of 20 squamous cell carcinomas, 2 (40.0%) of 5 adenocarcinomas. LOH was found in 5 (25.0%) of 20 squamous cell carcinomas, 1 (20.0%) of 5 adenocarcinomas. We found microsatellite instability in 6 (46.2%) of 13 cancers at stage I, in 2 (40.0%) of 5 at stage II, in 3 (37.5%) of 8 at stage III. in 1 (100%) of 1 at stage IV. We found LOH in 3 (23.1%) of 13 cancers at stage I, in 2 (40.0%) of 5 at stage II, in 1 (12.5%) of 8 at stage Iii. Microsatellite instability was found in 4 (33.3%) of 12 smokers, 8 (53.3%) of 15 nonsmokers. LOH was found in 3 (25.0%) of 12 smokers, 3 (20.0%) of 15 nonsmokers. In conclusion, we have identified the microsatellite instability and LOH at 9p involved in the development of non-small cell lung carcinomas in Korean cancer patients.
Y specific 49a/TaqI haplotypes were studied in samples from a total of 770 Korean males derived from unrelated 24 surname lineages among the 274 surnames in Korea. a total of 23 alleles based on 5 bands (A, C, D, F and I) were detected. Based on the results of the haplotypes. it is more likely that the population structure of Koreans may not have evolved from a single man, TANGOON. Kim and Lee, the most common surnames (18% and 14% respectively), were associated with 17 alleles. whereas the rare surname (1.3%), Hwang, was associated with only 9 alleles. Most of alleles were found in common among all of the surname groups in this survey. The frequencies of most common variants at the A, C, D, F and I bands in a sample of 770 individuals, were 33.0%, 1.0%, 98.0%, 35.0%, 77.0% and 2.0% for A3, C1, C0, D2/D3, F1 and I0 alleles, respectively. The D2/D3 was characterized as the most common allele in Koreans. The 24 surname lineages were classified into 5 different genetic groups based on their different allelic frequencies. Therefore, our results suggest that these surname groups originated from at least five different male ancestors.
The genetic variation of placental aconitase (ACON : E.C. 4.2.1.3) was investigated in 311 Korean placentae by horizontal starch gel electrophoresis, We found that the numbers of individuals showing ACO1 1-1, ACO 1 2-1 and ACO 1 2-2 phenotype were 285(91.6%), 25 (8.1%) and 1 (0.3%), respectively, The allele frequencies of ACO1(1) and ACO1(2) were 0.957 and 0.043, In contrast to the polymorphic phenotype of cytoplasmic aconitase (ACO1), mitochondrial aconitase (ACO2) was found to be monomorphic, Our results show that the allele frequencies in Korean population are similar to those of Japanese population, The results further confirm the previous suggestion that the frequency of ACO1(2) allele in Mongoloid group including Korean seems to be higher than that of other racial groups.
In order to study the genetic variation of phosphoglucomutase? (PGM3) in Korean population, phenotype distribution and allele frequencies of PGM3 were investigated. For PGM, phenotyping, horizontal starch gel electrophoreses were performed in randomly collected 314 placental samples. The number of individuals showing PGM3 1-1, PGM3 2-1 and PGM3 2-2 phenotype were 207, 90 and 17, respectively. The allele frequencies of PGM(1)3 and PGM(2)3 Were 0.802 and 0.198, respectively. These results are similar to those of Japanese and suggest that the frequency of PGM(2)3, allele in Asian population including Korean seemes to be lower than that of other racial populations.
In a series of genetic studies of Korean population, genetic polymorphism of mannose phosphate isomerase was investigated in 309 placental samples by using the method of horizontal starch gel electrophoresis. The number of MPI 1-1 and MPI 3-1 phenotypes observed was 299 and 10, respectively. The allele frequencies for Mpi(1) and Mpi(3) were found to be 0.9838 and 0.0162, respectively, which were similar to those of Chinese and Papua New Guinean in Port Moresby.