• Journal of Acupuncture Research
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• v.21 no.2
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• pp.21-29
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• 2004

목적 : 본 연구는 Interleukin 4 Receptor (IL-4R) 유전자 다형성이 중풍의 발병과 관련이 있는지 알아보기 위해 수행되었다. 대상: 대구한의대학교부속 한방병원에 입원한 중풍환자 56명과 종합건진센터에 내원한 중풍 기왕력이 없는 건강인 83명을 대상으로 하였다. 방법 : 각 그룹에서 개개인마다 DNA를 분리 정제한 후 Taq polymerase로 증폭하여 한천 겔에서 전기영동을 하여 PCR 산물을 확인하였다. PCR 산물은 Pyrosequencing 과정을 통하여 IL4R의 유전형이 자동으로 판정되었다. 결과 : A/A, A/G, G/G의 세가지 유전자형이 검출되었으며 중풍군과 대조군 사이에 유의성 있는 차이가 발견되었다(p=0.005). 그러나 개별 allele 빈도에 있어서는 중풍군과 건강인 사이에 통계적인 유의성이 나타나지 않았다(p=0.995). 결론 : 이상의 결과를 통하여 IL4R 유전자 다형성은 중풍의 발병과는 관련성이 있는 것으로 사려되지만 더 많은 환자를 대상으로 다른 환경요인 또는 유전자와의 연관성에 대한 심도있는 연구가 필요하다고 하겠다.

• Journal of Oral Medicine and Pain
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• v.21 no.2
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• pp.317-329
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• 1996

Allelic frequency and genotype distribution of short tandem repeat(STR) F13A01 locus was analysed by polymerase chain reaction, polyacrylamide gel electrophoresis and silver staining from human genomic deoxyribonucleic acid(DNA) was extracted from 205 unrelated Korean to be applied to forensic identification and parentage testing as a database. The results were as follows : 1. 5 alleles and 11 genotypes of F13A01 locus were detected and heterozygosity value was 62.0% and the observed each alleles and allelic frequency was 3.2(0.363), 4(0.105), 5(0.063), 6(0.466), 16(0.002). 2. The allelic diversity value was 0.639 and the power of discrimination was 0.804.3. Compared with observed number of alleles and allele frequency in ethnic difference, result was appeared to be similar to that of Japanese and Asians, while was appeared to be much different to that of Blacks and Caucasians in the observed number of alleles and frequency of allele 3.2, 5, 7. From the above result of this investigation, the allelic frequency of STR F13A01 locus in the Korean was considerd to be useful for individual identification and parentage testing as a database.

• Clinical and Experimental Pediatrics
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• v.51 no.1
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• pp.42-46
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• 2008

Purpose : Apolipoprotein E (Apo E) plays a major role in lipoprotein metabolism and lipid transport. Many investigators have described that Apo E polymorphisms is one of the most important genetic determinants for cardiovascular disease. The purpose of this study was to evaluate the association between Apo E polymorphisms and serum lipid profiles in obese adolescent. Methods : We measured the serum concentrations of glucose, apolipoprotein (Apo) A1, Apo B, total cholesterol (TC), triglyceride (TG), HDL and LDL-cholesterol after overnight fasting in obese adolescent. Apo E polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results : 86 obese adolescents participated in this study. The body mass index (BMI) of participants were excess of 95 percentile by age and sex. Male to female ratio was 1.7 and mean age of study group was $16.2{\pm}1.8\;years$. Mean BMI was $27.4{\pm}2.5kg/m^2$. The frequency of ${\varepsilon}2$, ${\varepsilon}3$ and ${\varepsilon}4$ allele were 8.1%, 87.2% and 4.7% respectively. Study populations were classified into the following three genotypes 1) Apo E2 group (n=13, 15.1%) carrying either the ${\varepsilon}2/{\varepsilon}2$ or ${\varepsilon}2/{\varepsilon}3$ 2) Apo E3 group (n=65, 75.6%) carrying the most frequent ${\varepsilon}3/{\varepsilon}3$ 3) Apo E4 group (n=8, 9.3%) carrying either the ${\varepsilon}3/{\varepsilon}4$ or ${\varepsilon}4/{\varepsilon}4$. No differences were found among Apo E genotypes concerning age, sex, weight, height and BMI. Apo B and LDL-cholesterol concentrations were significantly higher in the Apo E4 group (P<0.05). No association were found between Apo E genotypes and glucose, Apo A1, TC, TG and HDL. Conclusions : We confirmed that serum concentrations Apo B and LDL-cholesterol were influenced by Apo E genotypes. Apo E polymorphisms seems to influence some alteration of lipid metabolism associated with obesity in adolescent.

• Korean Journal of Ichthyology
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• v.32 no.2
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• pp.39-48
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• 2020

The slender shinner (Pseudopungtungia tenuicorpa), a tiny freshwater fish of about 8 to 10 cm belonging to Cyprinidae, is an endangered species found only in the Han and Imjin Rivers on the Korean Peninsula. During the breeding season, this species spawns in nests of Coreoperca herzi, a predator of this species, or small crevices on rocks. This unique reproductive ecology can make this species more vulnerable to anthropogenic perturbance that can further limit the places to spawn. Here, mtDNA and microsatellite loci were analyzed to identify the genetic diversity and structure of slender shinners and further to provide the basic data necessary for the conservation planning of this species. A total of 28 polymorphic microsatellite markers were developed using Illumina paired-end sequencing, and 67 slender shinners collected from three localities in the Han River were genotyped using these loci. This species showed a remarkably high level of genetic diversity with mean expected heterozygosity of 0.914 and mean allele number per locus of 27.9, and no signature of drastic demographic decline was detected. As a result of our microsatellite analysis, the genetic structure between the two stems of the Han River, North Han and South Han, was prominent. Such a genetic structure was also evident in the sequence analysis of 14 haplotypes obtained from mtDNA control region. Although slender shinners are only found in very limited areas around the world, the genetic structure indicates that there is a block of gene flow among the populations, which should be reviewed in the future if management and restoration of this species is needed.

• Journal of Life Science
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• v.15 no.6 s.73
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• pp.972-978
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• 2005

The present study was carried out to investigate the blood markers of Jeju horses. The redcell cypes (blood groups) and blood protein types (biochemical polymorphisms) were tested from 102 Jeju horses by serological and electrophoretc procedure, and their phenotypes and gene frequencies were estimated. The blood group and biochemical polymorphism phenotypes observed with high frequency were $A^{af}\;(27.45\%$), $C^{a}\;(99.02\%$), $K^{-}\;(97.06\%$), $U^{a}\;(62.75\%$), $P^{b}\;(36.27\%$), $Q^{c}\;(47.06\%$), $D^{cgm/dghm}\;(13.73\%$), $D^{adn/cgm}\;(9.80\%$), $D^{ad/cgm}$\;(8.82\%$), $D^{dghm/dghm}(7.84\%$), $D^{cgm/cgm}(7.84\%$), $AL^{B}\;(48.04\%$), $GC^{F}\;(99.02\%$), $AlB^{K}\;(97.06\%$), $ES^{FI}\;(36.27\%$), $TF^{F2}\;(25.49\%$), $HB^{B1}\;(45.10\%$), and $PGD^{F}\;(86.27\%$) in Jeju horses, respectively. Alleles observed with high gene frequency were $A^{af}$ (0.3726), $A^{C}$ (0.2647), $C^{-}$ (0.5050), $K^{-}$ (0.9853), $U^{-}$ (0.6863), $P^{b}$ (0.4657), $Q^{c}$ (0.5294), $D^{cgm}$ (0.3039), $HB^{B1}$(0.6863), $PGD^{F}$ (0.9265), $AL^{B}$ (0.6912), $ALB^{K}$ (0.9852), $GC^{F}$ (0.9950), $ES^{I}$ (0.5000) and $TF^{F2}$ (0.4950) in Jeju horses, and sfecific alleles, $D^{cgm(f)}$ (0.0196), $HB^{A}$ (0.0147), $HB^{A2}$ (0.0196), $ES^{G}$ (0.0441), $ES^{H}$ (0.0098), $TF^{E}$TF'(0.0246), $TF^{H2}$ (0.0049) and $PGD^{D}$ (0.0098) were detected in Jeju horses. These preliminary results present basic information for detecting the genetic markers in Jeju horse. and developing a system for parentage verification and individuals identification in jeju horses.

• Journal of Animal Science and Technology
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• v.44 no.2
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• pp.207-212
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• 2002

This study was conducted to investigate the genotypes and frequencies of Melanocortin 1 Receptor(MC1R) genes in pigs which plays a central role in regulation of eumelanin (black/brown) and phaeomelanin(red/yellow) pigment synthesis within the mammalian melanocytes. Four different breeds of pigs(20 Landrace, 20 Yorkshire, 20 Duroc, and 93 Jeju native black pigs) were used and PCR-RFLP analysis of MC1R gene was also carried out. Two regions of MC1R genes (428bp and 405bp) were amplified using two specific primers (MERL1-EPIG2, EPIG1-EPIG3), respectively and MC1R allele were determined using 2 restriction enzymes (BspHⅠ, AccⅡ). The results of this experiment indicated that MC1R allelic type in Landrace, Large Yorkshire and Duroc were MC1R *2 (Ep), MC1R *2 (Ep), MC1R *4 (e), respectively. However, various allelic types of MC1R genes were detected in Jeju native black pigs. MC1R allelic type of Jeju black pigs was MC1R*2 type as in Meishan and Large black breeds or MC1R*3 type as in Hampshire and Berkshire breeds and the gene frequencies of ED1 and ED2 were 0.554 and 0.446 in average.

• Food Science of Animal Resources
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• v.24 no.4
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• pp.349-354
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• 2004

Stress-susceptible pigs have been known as the porcine stress syndrome (PSS), swine PSS, also known as malignant hyperthermia (MH), is characterized as sudden death and production of poor meat quality such as PSE (pale, soft and exudative) meat after slaughtering. PSS and PSE meat cause major economic losses in the pig industry. A point mutation in the gene coding for the ryanodine receptor (RYR1) in porcine skeletal muscle, also known calcium (Ca$^{2+}$) release channel, has been associated with swine PSS and halothane sensitivity. We used the PCR-RFLP(restriction fragment length polymorphism) and PCR-SSCP (single strand conformation polymorphism) methods to detect the PSS gene mutation (C1843T) in the RYR1 gene and to estimate genotype frequencies of PSS gene in Korean pig breed populations. In PCR-RFLP and SSCP analyses, three genotypes of homozygous normal (N/M), heterozygous carrier (N/n) and homozygous recessive mutant (n/n) were detected using agarose or polyacrylamide gel electrophoresis, respectively. The proportions of normal, carrier and PSS pigs were 57.1, 35.7 and 7.1％ for Landrace, 82.5, 15.8 and 1.7％ far L. Yorkshire, 95.2, 4.8 and 0.0％ for Duroc and 72.0, 22.7 and 5.3％ for Crossbreed. Consequently, DNA-based diagnosis for the identification of stress-susceptible pigs of PSS and pigs producing PSE meat is a powerful technique. Especially, PCR-SSCP method may be useful as a rapid, sensitive and inexpensive test for the large-scale screening of PSS genotypes and pigs with PSE meat in the pork industry.y.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.65 no.3
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• pp.199-213
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• 2020

Grain size and shape are the two important components contributing to rice yield and quality. To analyze traits related to grain-shape, a total of 272 varieties derived from japonica, japonica black and Tongil-type rice accession in Korea were evaluated in this study. The traits, grain length (GL), grain width (GW), grain thickness (GT), length to width ratio (RLW), and 1000-grain weight (TGW) were measured and replicated 10 times. Genes (GW2, GS3, qGL3, qSW5, GS5, TGW6, GW7, and GW8) related to grain-shape were validated in the accessions using specific DNA marker sets. K-mean clustering of the accession based on phenotypic data revealed three groups: group 1 was classified by GW and GT and included most of japonica type, group 2 was classified by RLW and GL reached a medium size and possessed a half spindle-shaped type, and group 3 was classified by TGW, reached a long size and possessed a semi-round shape. In validation tests using the marker sets, both gw2 and tgw6 were validated in less than 1% of the tested accessions and two allelic types, qgl3 and gw8, were only verified in Tongil-type accessions. For GW8 and GW2, any different amplicons were not amplified in any japonica or Tongil-type accessions, respectively. In order to suggest the representative grain-shape gene combinations for each ecotype, the allelic combinations were evaluated by PCR analysis. Cj1 and 2 in japonica (Cj1-7), Cj_b1 and 2 in japonica-black (Cj_b1-3), and CT3 in Tongil-type (CT1-13) turned out to be the dominant combination in each ecotype, respectively. In addition, the results revealed that introgression of four genes (gw2, gs3, qSW5, and GS5) would expand the diversity of grain shape in Korean japonica varieties. The gene combinations information could be utilized practically to understand or enhance grain shape in japonica rice breeding program.

• Journal of Life Science
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• v.19 no.2
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• pp.169-173
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• 2009

To assist in selection schemes we estimate the genetic diversity of the horse breeds. Genetic diversity at 13 microsatellite loci was compared in six horse breeds : Jeju Native Horse, American Quarter, Jeju Racing Horse, Mongolian Horse, Japanese Horse and Thoroughbred. All of the equine microsatellite used in this study were amplified and were polymorphic. The expected total heterozygosity over all the populations varied between 0.669 and 0.869 and the expected heterozygosity within population range from 0.569 to 0.219 in this study. The low coefficient of gene differentiation value showed that only 0.118 of the diversity was between horses breeds. The constructed dendrogram from the genetic distance matrix showed little differentiation between horse breeds using DISPAN program. The genetic distance using 13 microsatellites ranged between 0.137 and 0.414 for the six horse breeds. These results confirm the potential use of equine microsatellite loci as a tool for genetic studies in horse populations. The genetic diversity of the six horse breeds to each other closed to their geographical distribution. Suggesting that the loci would be suitable for horse breeds parentage testing. Therefore, Microsatellite marker seems to be very useful for clarifying the evolutionary relationships of closely related populations.

• Journal of Life Science
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• v.14 no.4
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• pp.696-701
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• 2004

The present study was carried out to investigate the redcell types of horse breeds. A total of 210 horses (73 Korean native horses, 118 crossbreed horses, and 19 Mongolian horses) were tested a redcell types by serological procedure, and their phenotypes and gene frequencies were estimated. The blood groups phenotypes observed with highest frequency were Aa (27.4%, 63.6%, 63.2%), Ca (97.3%, 94.9%, 89.5%), K- (97.3%, 99.2%, 84.2%), Pa (39.7%, 44.9%, 42.1%), and Ua (71.2%, 70.3%, 63.2%) in the Korean native horse, crossbreed horse, and Mongolian horse, respectively. In the D system and Q system, phenotypes observed with highest frequency were Dbcm/dghm (12.3%), Dbcm/cgm (14.4%), Dcgm/dghm (15.8%), and Qc (56.2%), Qabc (36.4%), Qc (31.6%) in the Korean native horse, crossbreed horse, and Mongolian horse, respectively Alleles observed with highest frequency were A- (0.287), Ca(0.827), Ddghm (0.226), K- (0.985), Pa (0.358), Qc (0.494), U-(0.529) in the Korean native horse, Aa (0.529), Ca (0.776), Dbcm (0.306), K- (0.995), P- (0.531), Q- (0.504), U- (0.548) in crossbreed horse, and Aa (0.421), Ca (0.895), Ddghm (0.421), K- (0.842), Pa (0.447), Qc (0.448), Ua (0.632) in Mongolian horse. Dcfgk and D- alleles were not detected in these horses. These results present basic information for estimating the genetic relationships between the Korean native horse, and developing a system for parentage verification and individual identification in these horses.