• Clinical and Experimental Reproductive Medicine
• /
• v.33 no.1
• /
• pp.61-61
• /
• 2006

Objectives : This study was performed to understand the influence of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotypes on the spontaneously aborted embryos. Methods : DNA was extracted from tissue samples of 95 spontaneously aborted embryos and 100 samples of normal children randomly and 449 samples of normal adults were selected as the controls. MTHFR genotypes were determined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results : The aborted embryo group had higher frequency of MTHFR 677CC type (p=0.014) and lower 677CT type (p=0.063) than the controlled child group. The frequency of MTHFR 677CT type was drastically lower than that of controlled adult group (p=0.032). In the MTHFR C677T/A1298C combination, 677CC/1298AC genotype of the aborted embryo was significantly higher (p=0.034) than that of controlled child group, but it was not statistically significant in controlled adult group (p=0.063). Conclusion : MTHFR 677CC and MTHFR 677CC/1298AC genotypes may represent genetic markers for the risk of spontaneously aborted embryos at least in Koreans.

• Journal of Oral Medicine and Pain
• /
• v.22 no.2
• /
• pp.219-232
• /
• 1997

치아는 성별과 연령의 추정은 물론 혈형 검사와 유전자 검사까지 가능하게 하는 중요한 법의치과학적 자료이다 대부분 치아를 이용한 연구는 핵 DNA가 들어있는 치수에서의 연구로 치수내에는 풍부한 혈액 및 세포가 분포해 있어 핵 DNA가 다량 함유되어 있다. 그러나 순수 상아질에는 핵이 없고 따라서 핵 DNA도 없는 것으로 알려졌지만 치수내에 존재하는 핵 DNA가 상아세관을 통하여 상아질내로 침투할 가능성이 있고 실제 근관치료가 되어 있는 무수치를 감정하게 되는 경우도 있다. 본 연구에서는 이러한 치아중에서도 근관치료를 받은 무수치에서 개인식별에 활용되는 유전자가 검출되는지 여부를 확인하고자 하였다. 40개의 근관치료된 치아상아질에서 DNA출 추출하고 중합효소반응을 이용하여 증폭절편다형(Amp-FLPs)을 실시하고 X-Y homologous amelogenin gene과 STR 유전좌위 F13A01, LPL를 검색하여 다음과 같은 결과를 얻었다. 1. 40개의 근관치료된 치아중 19개에서 DNA가 추출되었다. 2. X-Y homologous amelogenin gene 검색으로 40개의 근관치료된 치아에서 21의 남자 치아중 5개, 19개의 여자치아중 7개 등 모두 12개 치아에서 성별검사가 가능하였다. 3. F13A01 유전자는 43개의 근관치료된 치아중 6개의 치아에서 검색되었으며, 4개의 대립유전자 및 5개의 유전자형을 관찰하였다. 4. LPL_유전자는 40개의 근관치료된 치아중 7개의 치아에서 검색되었으며, 3개의 대립유전자 및 3개의 유건자형을 관찰하였다. 이상의 결과를 종합하여 볼 때 근관치료된 치아상아질에서 중합효소반응을 이용한 성별검사 및 STR 유전자위의 검색은 일부 치아에서만 가능하였으나, 근관치료된 치아들도 개인식별을 위한 법의치과학적 자료로서 유용할 것으로 사료된다.

• Korean Journal of Agricultural Science
• /
• v.22 no.2
• /
• pp.170-179
• /
• 1995

This study was conducted to investigate the genetic constitution of blood proteins and enzymes in 238 Korean Native cattle reared at Korean Native Cattle Breeding Center, National Livestock Cooperative Federation. The genetic polymorphisms of post-transferrin-2(pTf-2), transferrin(Tf), post-albumin(pAlb), albumin(Alb), ceruloplamin(Cp), amylase-I(Am-I) and hemoglobin(Hb) were analyzed by using PAGE(polyacrylamide gel electrophoresis) and STAGE(starch gel electrophoresis). The genotypes and gene frequencies were estimated at these loci for each blood proteins and enzymes. The results obtained from this study were summarized as follows : 1. The pTf-2 locus were identified to be genetically controlled by codominant alleles designated pTf-2 F and S, and the distribution of genotypes were 46.22, 46.64 and 7.14% for pTf-2 FF, FS and SS types, and the gene frequencies of the pTf-2 F and S allele were 0,695 and 0.305, respectiveley. 2. The Tf locus were found to be controlled by Tf A, D1, D2 and E alleles, and the distributioin of genotypes were 0.84, 13.87, 13.03, 10.92, 22.27, 12.61, 2.94, 15.51, 6.72 and 1.68% for Tf AA, AD1, AD2, AE, D1D1, D1D2, D1E, D2E and EE types, and the gene frequencies of Tf A, D1, D2 and E were 0.197, 0.430, 0.191 and 0.081, respectively. 3. The pAlb locus were observed to be controlled by two alleles, pAlb F and S, and the distribution of genotypes were 42.86, 33.19 and 23.95% for pAlb FF, FS and SS types, and the gene frequencies were 0.595 and 0.405 for Tf F and S allele, respectively. Also the gene frequencies of Alb was 1.000 of Alb A allele. 4. The Cp locus were identified to be controlled by Cp F and S allele, and the distribution of genotypes were 23.11, 34.87 and 42.02% for Cp FF, FS and SS types, and the gene frequencies were 0.405 and 0.595 for Cp F and S allele, respectively. 5. The Am-I locus were observed to be genetically controlled by Am-I B and C allele, and the distribution of genotypes were 51.26, 16.81 and 31.92% for Am-I BB, BC and CC types, and the gene frequencies of Am-I B and C alleles were 0.597 and 0.403, respectively. 6. The Hb locus were found to be controlled by Hb A and B alleles, and the distribution of genotypes were 93.19, 16.39 and 0.42% for Hb AA, AB and BB types, and the gene frequencies of Hb A and B alleles were 0.914 and 0.086, respectively.

• Journal of Korean Society of Forest Science
• /
• v.87 no.1
• /
• pp.74-81
• /
• 1998

The estimates of genetic diversity based on 7 polymorphic loci coding for 6 isozymes were compared between the tolerant and the sensitive trees in an air polluted Prunus sargentii stand located on Ulsan industrial area. Although we could not observe statistically significant differences in allele and genotype frequencies between the two groups except the gene locus Got-2, the unique alleles and genotypes were observed in the tolerant group. All the genetic parameters such as genetic multiplicity, genetic diversity, and heterozygosity revealed that a greater amount of genetic variations existed in the tolerant group.

• Korean Journal of Agricultural Science
• /
• v.25 no.1
• /
• pp.68-78
• /
• 1998

To investigate the genetic polymorphisms and constitutions of blood proteins and enzymes in the Korean native cattle population of National Livestock Cooperatives Federation(NLCF), the genetic variants of transferrin(Tf), post-transferrin-2(pTf-2), albumin(Alb), post-albumin(pAlb), ceruloplasmin(Cp), amylase-I(Am-I) and herroglobin(Hb) were analyzed using the PAGE(polyacrylamide gel electrophoresis) and ST AGE(starch gel electrophoresis) methods. On the genetic variants of the serum proteins, the transferrin(Tf) locus was assumed to be genetically controlled by codominant alleles, Tf A, $D_1$, $D_2$ and E alleles, and the gene frequencies of these were 0.249, 0.248, 0.260 and 0.243, respectively. The post-transferrin locus was observed to be controlled by pTf-2 F and S alleles, and the gene frequencies of these were 0.662 and 0.338, respectively. The post-albumin(pAlb) loci were identified to be controlled by two alleles, pAlb F and S alleles for pAlb locus, and the gene frequncies of these were 0.440 and 0.560 for pAlb F and S alleles, respectively. On the genetic variants of the serum enzymes, ceruloplasmin(Cp) and amylase-I(Am-I) loci were found to be controlled by two alleles, Cp F and S for Cp locus, and Am-I B and C for Am-I locus, and gene frequencies of these were 0.319 and 0.681 for Cp F and S, and 0.871 and 0.120 for Am-I Band C, respectively. On the genetic variants of the hemoglobin(Hb), the distributions of genotypes were 76.5, 21.2 and 2.3% for Hb AA, AB and BB types, and the gene frequnecies for Hb A and B were 0.871 and 0.129, respectively. On the effects of genetic variants of blood proteins, Tf $D_1D_1$, $D_2D_2$ and $D_2E$ genotypes were significantly higher on body weight at 6 month and average daily gain than that of other Tf genotypes.

• Journal of Forest and Environmental Science
• /
• v.11 no.1
• /
• pp.81-101
• /
• 1995

Random amplified polymorphic DNA (RAPD) technology, a recent approach in molecular genetics, is much usable to select the elite trees and to maximize the genetic gain in forest tree breeding program, providing a clue to determine the genetic marker-trait correlation. This review intorduces research on bark thickness and breeding strategy in Pinus elliottii, Pinus caribaea and their hybrid by Queensland Forest Service and ForBio Research Pty Ltd, University of Queensland, which employ RAPD technology. Genetic linkage map of $F_1$ hybrids includes 186 RAPD markers and 16 linkage groups (1641 cM long in total) and 6 quantitative trait loci are located putatively for bark thickness. Following recent research results and experiences in pine breeding programs, the forseeable stages in the application and development are proposed for marker assisted selectin; stage 1-determination of species specific markers for genes controlling traits of commercial interest, and stage 2-determination of marker-allele association for specific allelic variants within pure species. As pines inherit their megagametophytes from the seed parent and zygotic embryos from both male and female parents, the determination of marker-trait correlation is possible even in embryo stage, eventually making ways for the early selection of elite individuals.

• Journal of Korean Society of Forest Science
• /
• v.98 no.6
• /
• pp.757-763
• /
• 2009

ISSR PCR technique was applied to investigate genetic relationship among 5 Mountain cultivated ginseng populations (Jinan, Hongcheon, Punggi, Andong and Yeongju) and cDNA libraries of wild ginseng roots were constructed and analyzed functional genes related to morphogenesis via EST. Twenty four ISSR markers tested produced 127 polymorphic loci from 5 regional Mountain cultivated ginseng. Among the regional samples, Yeongju was made 18 polymorphic loci that were the highest level of variations among the cultivated regions. The range of similarity coefficient was 0.46~0.58 and the regional samples of Punggi and Hongcheon, Jinan and Andong were classified to similar groups respectively, whereas Yeongju was shown to be separate group with high level of genetic variation in UPGMA cluster analysis. As a result, there was no relationship according to geographical distance and genetic similarity. Eleven cDNA clones were consisted of 9 known genes and 2 unknown genes analyzed by BLAST program of NCBI. To recognize expression pattern of Homeodomain transcription factor related genes, Northern Blot analysis was performed for wild ginseng's leaf and root. As a result, the gene was only expressed by Mountain wild ginseng root.

• Journal of Aquaculture
• /
• v.2 no.1
• /
• pp.9-20
• /
• 1989

This study was taken to isolate transferrin fractions from the sera of tilapia(Oreochromis niloticus) by physico-chemical analyses such as the rivanol precipitation, iron-staining method, SDS-polyacrylamide gel electrophoresis and $^{59}FeCl_3$ autoradiography, and to calculate gene frequencies by using Hardy-Weinberg Law. The results obtained in this experiment were summarized as follow : 1. The transferrin fraction is composed of several components possessing relative lower electrophoretic mobilities and higher molecular sizes than the albumin components. 2. When different staining method was compared with transferrin in band, it was not found difference. 3. It was concluded that the optimun ratio of rivanol to serum was 2 : 1 and this ratio was used in all further fractionation. 4. The molecular weight of transferrin component was about 70,000 $\pm$ 2,000. 5. Tilapia transferrin fractionations were found to be polymorphic. 6. There transferrin variants(A, B and C) have been found in tilapia(Oreochromis niloticus) and Tf types were assumed to be controlled by three codominant alleles Tf A, Tf B and Tf C. Six different phenotypes can be theoretically expected Tf AA, Tf AB, Tf AC, Tf BB, Tf BC, and Tf CC. Only five types of these were observed and Tf CC types(homozygotes) was not found. 7. The frequencies of the three allele Tf A, Tf B and Tf C were 0.795, 0.15 and 0.055 respectively.

• Journal of Oral Medicine and Pain
• /
• v.24 no.2
• /
• pp.219-234
• /
• 1999

치석에는 박리상피세포, 백혈구 등이 포함되어 있어 이들의 핵 내에 있는 DNA의 유전자형을 찾아내 개인식별을 할 수 있을 것으로 추정된다. 본 연구에서는 치석만으로 개인식별이 가능한지를 알아보고자 40명으로부터 채취한 치석을 증류수에 세척한 군과 세척하지 않은 군으로 나누어 DNA를 추출하고 중합효소연쇄반응법을 이용하여 증폭절편다형(AMP-FLPs)을 실시한 후 성별검사를 위한 X-Y homologous amelogenin gene과 유전자지문검사를 위한 STR유전좌위 LPL, F13B, Triplex(F13A01, FESFPS, vWA) 등 6개의 유전자를 검색하여 - X-Y homologous amelogenin gene과 LPL, F13B는 각각 증폭하였으며 F13A01, FESFPS, vWA 세 유전자는 동시에 증폭하였음 - 다음과 같은 결과를 얻었다. 1) X-Y homologous amelogenin gene 검색으로 세척군에서 27개의 검체 중 8개, 비세척군에서 13개 중 11개에서 성별검사가 가능하였다. 2) LPL유전자는 세척군, 비세척군에서 각각 27개 검체중 2개, 13개 검체 중 5개가 검색되었으며 3개의 대립유전자(10, 11, 12)와 4개의 유전자형 (10-10, 10-11, 10-12, 11-12)이 나타났다. 3) F13B유전자는 세척군, 비세척군에서 각각 27개 검체 중 1개, 13개 검체 중 4개가 검색되었으며 2개의 대립유전자(9, 10)와 2개의 유전자형(9-10, 10-10)을 관찰하였다. 4) F13A01유전자는 비세척군에서만 13개 검체 중 3개가 검색되었고 3개의 대립유전자(3.2, 4, 6)와 3개의 유전자형(3.2-3.2, 4-5, 4-6)을 관찰하였고, 세척군에서는 나타나지 않았다. 5) FESFPS유전자는 비세척군에서만 13개 검체 중 1개가 검색되었고 유전자 형은 11-12로 나타났다. 6) vWA유전자는 세척군, 비세척군에서 각각 1개씩 검색되었으며, 3개의 대립유전자형(14, 16, 17)와 2개의 유전자형(14-16, 14-17)을 관찰하였다. 이상의 결과를 종합해 볼 때, 치석은 X-Y homologous amelogenin gene증폭을 통한 성별검사와 단일 STR유전좌위 증폭을 통한 유전자지문형 검사에는 유용하나 복합 STR유전좌위의 검색에는 부적합한 것으로 나타났으며 법의학적시료로 응용이 가능한 것으로 사료된다.

• Tuberculosis and Respiratory Diseases
• /
• v.44 no.3
• /
• pp.534-546
• /
• 1997

Background : The p53 and retinoblastoma(Rb) tumor suppressor genes are associated with the pathogenesis of several types of human cancer. Substantial proportion of the primary lung cancers or cell lines have been reported to have the p53 and/or the Rb gene mutations. But, so far there is no report on the analysis of the Rb gene polymorphism as one of the genetic susceptibility marker. This study was undertaken to establish the gene frequencies of the polymorphic genotypes of the p53 and Rb genes in Koreans to evaluate the possible involvement of these genotypes as a risk factor of lung cancer. Methods : In this study 145 controls without previous and present tumor history and 128 lung cancer patients were subjected to analysis. The two intragenic polymorphisms of the p53 gene(exon 4/ AccII, intron 6/MspI) and one intron 17/XbaI polymorphism of the Rb gene were analysed by the method of polymersae chain reaction- restriction fragment length polymorphisms(PCR-RFLPs). The genotype of the intron 3/16 bp repeat polymorphism of p53 was determined by PCR and direct gel electrophoresis. Results : There were no significant differences in the genotype distributions of the p53 gene between lung cancer patients and controls. But heterozygotes(Arg/Pro) of the exon 4/AccII polymorphisms were slightly over-represented than controls, especially in the Kreyberg type I cancer, which was known to be associated with smoking. The intron 3/16 bp duplication and the intron 6/MspI polymorphisms were in complete linkage disequilibrium. About 95% of the individuals were homozygotes of the common alleles both in the 16 duplication and MspI polymorphisms, and no differences were deteced in the genotype distributions between lung cancer patients and controls. Overall genotype distributions of the Rb gene polymorphisms between lung cancer patients and controls were not significantly different However, the genotype distributions in the Kreyberg type I cancer were significantly different from those of controls(p = 0.0297) or adenocarcinomas(p = 0.0008). It was noticeable that 73.4% of the patients with adenocarcinomas were heterozygotes(r1/r2) whereas 39.2% of the Kreyberg type I cancer were heterozygous at this polymorphisms. In the lung cancer patients, significant differences were also noted between the high dose smokers and low dose smokers including non-smokers(p = 0.0258). The relative risk to Kreyberg type I cancer was significantly reduced in the individuals with the genotype of r1/r2(odds ratio = 0.46, 95% C.I. = 0.25-0.86, p = 0.0124). The combined genotype distribution of the exon 4 AccII of the p53 and the intron 17 Rb gene polymorphisms in Kreyberg type I cancers were significantly different from dose of controls or adenocarcinomas. The highest odds ratio were observed in the individuals with the genotypes of Arg/Pro and r2/r2(odds ratio = 1.97,95% C.I. = 0.84-4.59) and lowest one was in the patients with Arg/Arg, r1/r2 genotype(odds ratio = 0.54, 95% C.I. = 0.25-1.14). Conclusion : The p53 and the Rb gene polymorphisms modulate the risk of smoking induced lung cancer development in Koeans. However, the exact mechanism of risk modulation by these polymorphism remains to be determined. For more discrete clarification of associations between specific genotypes and lung cancer risk, the evaluations of these polymorphisms in other ethnics and more number of patients will be needed.