• Asian-Australasian Journal of Animal Sciences
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• v.19 no.12
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• pp.1685-1690
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• 2006

Kenkatha cattle, a draft purpose breed, which can survive in a harsh environment on low quality forage, was explored genetically exploiting FAO-suggested microsatellite markers. The microsatellite genotypes were derived by means of the polymerase chain reaction (PCR) followed by electrophoretic separation in agarose gels. The PCR amplicons were visualized by silver staining. The allelic as well as genotypic frequencies, heterozygosities and gene diversity were estimated using standard techniques. A total of 125 alleles was distinguished by the 21 microsatellite markers investigated. All the microsatellites were highly polymorphic with mean allelic number of 5.95${\pm}$1.9 (ranging from 3-10 per locus). The observed heterozygosity in the population ranged between 0.250 and 0.826 with a mean of 0.540${\pm}$0.171, signifying considerable genetic variation. Bottleneck was examined assuming all three mutation models which showed that the population has not experienced bottleneck in recent past. The population displayed a heterozygote deficit of 21.4%. The study suggests that the breed needs to be conserved by providing purebred animals in the breeding tract.

• Korean Journal of Biological Psychiatry
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• v.15 no.4
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• pp.303-309
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• 2008

Objectives : Some reports have suggested that 5-HT5A polymorphism allelic association was associated with depression, however, there has been no report about relationship between the 5-HT5A gene and antidepressant response. We conducted the association study of the 5-HT5A receptor gene polymorphisms (-19G/C,12A/T) and response to citalopram in Korean patients with major depressive disorder(MDD). Methods : A total of 106 patients with major depressive disorder were included in this study. The patient's symptoms were measured by 21-item Hamilton Depression Rating Scale(HAMD) at baseline, week 1, week 2, week 4 and week 8 during citalopram treatment. A Responder to citalopram was defined by 50% reduction of total HAMD scores. To analyze genetic polymorphisms, a polymerase chain reaction based method was used. Results : At week 8, responders were 62, non-responders were 44. No significant differences of genotypes or allelic association in 19G/C and 12A/T polymorphisms were observed between responsive and non-responsive patients. Conclusion : These results do not support the hypothesis that this polymorphism of the HT5A receptor gene is involved in the therapeutic response to citalopram.

• Korean Journal of Biological Psychiatry
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• v.4 no.2
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• pp.225-233
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• 1997

The authors attempted to examine the allelic association between the A1 allele of Dopamine $D_2$ receptor and schizophrenia, alcoholism, drug addiction in Koreans. Schizophrenic patients(n=31), alcoholism(n=65), drug addiction(n=18) and controls(n=52) were examined by case-control study for distribution of the TaqI polymorphism of the dopamine $D_2$ receptor gene in Korean population to minimize the effect of racial differencies in gene frequencies. In schizophrenics, the numbers of schizophrenics with A1A1, A1A2, A2A2 were 9(29.0%), 15(48.4%) and 7(22.6%) respectively and in alcoholics with A1A1, A1A2, A2A2 were 14(21.5%), 36(55.4%) and 15(23.1%) respectively and in drug addiction with A1A1, A1A2, A2A2 were 2(11.1%), 10(55.6%) and 6(33.3%) respectively and in controls with A1A1, A1A2, A2A2 were 4(7.6%), 24(46.2%) and 24(46.2%) respectively. The prevalence of the A1 allele in schizophrenics, alcoholics, drug addiction and controls were 77%, 76.9%, 67% and 53.8% respectively. And the frequency of the A1 allele in schizophrenics, alcoholics, drug addiction and controls were 0.53, 0.49 0.39 and 0.31 respectively. There was significant difference in the frequency of the A1 allele between schizophrenics, alcoholics and controls. We also classified our alcoholic population. For classification by severity, we used the median MAST score 30 in our samples. There was also significant difference in the frequency of the A1 allele between less severe group(0.42) and more severe group(0.57). This data suggest that the A1 allele is associated with schizophrenia and alcoholism in Koreans. Furthermore the prevalence of the A1 allele increassed in more severely affected alcoholics. The authors conclude that our data support an allelic association between the A1 allele at dopamine $D_2$ receptor and schizophrenia, alcoholism. These results suggest the A1 allele of the $DRD_2$ gene is associated with a number of behavior disorders in which it may act as a modifying gene rather than as the primary etiological agent.

• Korean Journal of Schizophrenia Research
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• v.23 no.2
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• pp.71-77
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• 2020

Objectives: Tardive dyskinesia (TD) is a movement disorder that is characterized by hyperkinetic movements. Previous studies have suggested that the serotonergic systems are correlated with TD vulnerability. In this study, the association between a single-nucleotide polymorphism (SNP) of the serotonin 1A receptor gene (HTR1A) rs6295 and TD was investigated. Methods: We investigated whether HTR1A rs6295 SNP is associated with antipsychotic-induced TD in 280 Korean patients with schizophrenia. Patients with schizophrenia having TD (n=105) and those without TD (n=175) were matched for their antipsychotic exposures and other relevant variables. The HTR1A rs6295 SNP was analyzed using polymerase chain reaction (PCR)-based methods. Results: There was no significant difference in the distribution of genotypic (χ²=2.70, p=0.26) and allelic (χ²=1.87, p=0.17) frequencies between the patient groups with TD and without TD. There was no significant difference in total abnormal involuntary movement scale score (F=0.39, p=0.68) among the genotype group either. Conclusion: Although there were no differences in genotypic and allelic frequency between patient groups with and without TD, further studies on association of TD with other SNPs of HTRA1 are needed to understand the pathophysiological mechanism of TD.

• Korean Journal of Poultry Science
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• v.35 no.2
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• pp.163-169
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• 2008

A total of 17 polymorphic microsatellite markers on chromosome 1 were used for allelic association tests with phenotypic traits in Korean native chicken. Chi-square tests were performed to compare the frequencies of individual alleles between the high and the low trait groups. The frequency of allele 123 of MCW0160 showed a significant difference between the high and the low groups in the trait of egg weight (EW). Three markers, namely ADL0234, UMA1.125 and ADL0101, were found to show significant differences in allelic distribution for the trait of the first lay day (FLD). UMA1.117, ADL0020, UMA 1.019, LMA1 and ADL0238 were found to show significant differences in allelic distribution for the trait of body weight (BW). ADL0101 and ADL0238 were found to show significant differences in allelic distribution for the trait of number of egg production(EP). In this study, we identified the QTL for economic traits at around 94 (MCW0160), 151 (ADL0234), 170 (UMA1.125), 225 (UMA1.117), 285 (ADL0020), 387 (UMA1.019), 418 (LMA1), 500 (ADL0101) and 520 (ADL0238) cM on chromosome 1 in Korean native chicken. The results provided a useful guideline for identification of positional candidate gene and marker-assisted selection for economic traits in Korean native chicken.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1821-1825
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• 2015

Background: Associations between the NQO1 C609T polymorphism and hepatocellular carcinoma (HCC) risk are a subject of debate. We therefore performed the present meta-analysis to evaluate links with HCC susceptibility. Materials and Methods: Several major databases (PubMed, EBSCO), the Chinese national knowledge infrastructure (CNKI) and the Wanfang database were searched for eligible studies. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to measure the strength of associations. Results: A total of 4 studies including 1,325 patients and 1,367 controls were identified. There was a significant association between NQO1 C609T polymorphism and HCC for all genetic models (allelic model: OR=1.45, 95%CI=1.23-1.72, p<0.01; additive model: OR=1.96, 95%CI=1.57-2.43, p<0.01; dominant model: OR=1.62, 95%CI=1.38-1.91, p<0.01; and recessive model: OR=1.53, 95%CI=1.26-1.84, p<0.01). On subgroup analysis, similarly results were identified in Asians. For Asians, the combined ORs and 95% CIs were (allelic model: OR=1.50, 95%CI=1.24-1.82, p<0.01; additive model: OR=2.11, 95%CI=1.48-3.01, p<0.01; dominant model: OR=1.69, 95%CI=1.42-2.02, p<0.01; and recessive model: OR=1.59, 95%CI=1.16-2.19, p<0.01). Conclusions: The current meta-analysis suggested that the NQO1 C609T polymorphism could be a risk factor for developing HCC, particularly in the Chinese population.

• The Journal of the Korean Society for Microbiology
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• v.21 no.2
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• pp.171-179
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• 1986

The HLA class II region encodes a series of polymorphic glycoproteins that form cell surface heterodimers each consisting of one $\alpha$ and one $\beta$ chain. Thess class II molecules are encoded by genes clustered within three loci. DP, DQ, and DR are functfonally implicated as regulatory signals in intercellular communication during the immune resposes. The phenotypic hallmark of the HLA complex is a high degree of structural and functional polymorphism. Detailed analysis. of such polymorphisms should aid in understanding the molecular basis for associations between HLA and diseases. We have used techniques of restriction enzyme fragment analysis by Southern blotting to investigate polymorphisms associated with DQ $\beta$ class II genes on haplotypes expressing the HLA-DR4 and -DQw3 specificities. The endonucleases Hind III and Bam HI were used to identify a specific DQ $\beta$ genomic polymorphism that precisely corrresponds with the reactivity of a monoclonal antibody A-10-83, previously shown to define a serologic split of DQw3. This study identifies two allelic DQ va. riants. DQw3.1 and DQw3.2. We used these specific genotypic markers to investigate the genomic basis of the association of DR4 with insulin-dependent diabetes mellitus(IDDM) and seropositive juvenile rheumatoid arthritis(JRA). The DR4 positive IDDM demonstrate the predominant expression of DQw3.2 and the very rare expression of DQw3.l. However, in haplotype matched siblings from two IDDM families, all of the DR4 positive siblings display a IDDM-associated DQw3.2 allele. Thus, both affected and healthy individuals can carry the same haplotypes and genomic markers, demonstrating that thess specific allelic variants are genetic elements that indicate a increased risk of IDDM but are not in fact disease specific. We contrasted this result with a similar analysis of patients with another DR4-associated disease, JRA. In contrast to the preponderance of the DQw3.2 allele in IDDM, the JRA patients expressed either the DQw3.1 or the DQw3.2 allele and sometimes both, without apparent association with disease expession. The different genomic markers reported here within HLA-DQ region potentially an analysis of HLA-associated function and disease susceptibility.

• Asian-Australasian Journal of Animal Sciences
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• v.27 no.5
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• pp.616-627
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• 2014

The Lanyu is a miniature pig breed indigenous to Lanyu Island, Taiwan. It is distantly related to Asian and European pig breeds. It has been inbred to generate two breeds and crossed with Landrace and Duroc to produce two hybrids for laboratory use. Selecting sets of informative genetic markers to track the genetic qualities of laboratory animals and stud stock is an important function of genetic databases. For more than two decades, Lanyu derived breeds of common ancestry and crossbreeds have been used to examine the effectiveness of genetic marker selection and optimal approaches for individual assignment. In this paper, these pigs and the following breeds: Berkshire, Duroc, Landrace and Yorkshire, Meishan and Taoyuan, TLRI Black Pig No. 1, and Kaohsiung Animal Propagation Station Black pig are studied to build a genetic reference database. Nineteen microsatellite markers (loci) provide information on genetic variation and differentiation among studied breeds. High differentiation index ($F_{ST}$) and Cavalli-Sforza chord distances give genetic differentiation among breeds, including Lanyu's inbred populations. Inbreeding values ($F_{IS}$) show that Lanyu and its derived inbred breeds have significant loss of heterozygosity. Individual assignment testing of 352 animals was done with different numbers of microsatellite markers in this study. The testing assigned 99% of the animals successfully into their correct reference populations based on 9 to 14 markers ranking D-scores, allelic number, expected heterozygosity ($H_E$) or $F_{ST}$, respectively. All miss-assigned individuals came from close lineage Lanyu breeds. To improve individual assignment among close lineage breeds, microsatellite markers selected from Lanyu populations with high polymorphic, heterozygosity, $F_{ST}$ and D-scores were used. Only 6 to 8 markers ranking $H_E$, $F_{ST}$ or allelic number were required to obtain 99% assignment accuracy. This result suggests empirical examination of assignment-error rates is required if discernible levels of co-ancestry exist. In the reference group, optimum assignment accuracy was achievable achieved through a combination of different markers by ranking the heterozygosity, $F_{ST}$ and allelic number of close lineage populations.

• Animal Bioscience
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• v.35 no.3
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• pp.399-409
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• 2022

Objective: Follicle-stimulating hormone (FSH) is the central hormone involved in mammalian reproduction, maturation at puberty, and gamete production that mediates its function by control of follicle growth and function. The present study investigated the mutations involved in the regulation of FSH receptor (FSHR) activation. Methods: We analyzed seven naturally-occurring mutations that were previously reported in human FSHR (hFSHR), in the context of equine FSHR (eFSHR); these include one constitutively activation variant, one allelic variant, and five inactivating variants. These mutations were introduced into wild-type eFSHR (eFSHR-wt) sequence to generate mutants that were designated as eFSHR-D566G, -A306T, -A189V, -N191I, -R572C, -A574V, and -R633H. Mutants were transfected into PathHunter EA-parental CHO-K1 cells expressing β-arrestin. The biological function of mutants was analyzed by quantitating cAMP accumulation in cells incubated with increasing concentrations of FSH. Results: Cells expressing eFSHR-D566G exhibited an 8.6-fold increase in basal cAMP response, as compared to that in eFSHR-wt. The allelic variation mutant eFSHR-A306T was not found to affect the basal cAMP response or half maximal effective concentration (EC₅₀) levels. On the other hand, eFSHR-D566G and eFSHR-A306T displayed a 1.5- and 1.4-fold increase in the maximal response, respectively. Signal transduction was found to be completely impaired in case of the inactivating mutants eFSHR-A189V, -R572C, and -A574V. When compared with eFSHR-wt, eFSHR-N191I displayed a 5.4-fold decrease in the EC₅₀ levels (3,910 ng/mL) and a 2.3-fold decrease in the maximal response. In contrast, cells expressing eFSHR-R633H displayed in a similar manner to that of the cells expressing the eFSHR-wt on signal transduction and maximal response. Conclusion: The activating mutant eFSHR-D566G greatly enhanced the signal transduction in response to FSH, in the absence of agonist treatment. We suggest that the state of activation of the eFSHR can modulate its basal cAMP accumulation.

• Tuberculosis and Respiratory Diseases
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• v.72 no.6
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• pp.475-480
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• 2012

Background: Pyrazinamide (PZA) is an effective antitubercular drug that becomes toxic to Mycobacterium tuberculosis when converted to pyrazinoic acid by pyrazinamidase (PZase), encoded by mycobacterial pncA. A strong association was noted between the loss of PZase activity and PZA resistance. The causative organisms in extrapulmonary tuberculosis are rarely cultured and isolated. To detect pncA mutations in specimens from extrapulmonary tuberculosis as confirmative diagnosis of mycobacterial infection and alternative susceptibility test to PZA. Methods: Specimens were collected from clinically proven extrapulmonary tuberculosis. pncA was sequenced and compared with wild-type pncA. Results: pncA from 30 specimens from 23 donors were successfully amplified (56.6% in specimens, 59% in donors). Six mutations in pncA were detected (20.0% in amplified specimens, 26.1% in specimen donors) at nucleotide positions of 169, 248 and 419. The mutation at position 169 results in substitution of aspartic acid for histidine, a possible allelic variation of M. bovis that have intrinsic PZA resistance. The mutation at position 248 changes proline into arginine and that at position 419, arginine into histidine. Conclusion: DNA-based diagnosis using pncA may be simultaneously useful for the early diagnosis of mycobacterial infection and the rapid susceptibility to PZA in extrapulmonary tuberculosis. A potential implication of pncA allelic variation at 169 might be suggested as a rapid diagnostic test for M. bovis infection or Bacille Calmette-Gu$\acute{e}$rin (BCG) reactivation.