• Proceedings of the Korean Society of Crop Science Conference
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• 2007.11a
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• pp.221.1-221.1
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• 2007

• Animal cells and systems
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• v.16 no.1
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• pp.41-49
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• 2012

Eighteen new polymorphic microsatellite markers were developed for the Korean mi-iuy croaker ($Miichthys$ $miiuy$, Perciformes, Sciaenidae), and allelic variability was compared between a wild population in Mokpo, Korea, and a hatchery population in Tongyeong, Korea. All loci were amplified readily and demonstrated allelic variability, with the number of alleles ranging from 5 to 37 in the wild population, and from 4 to 12 in the farmed population. The average observed and expected heterozygosities were estimated, respectively, to be 0.74 and 0.78 in the hatchery population samples, and 0.79 and 0.86 in the wild samples. These results indicate lower genetic variability in the hatchery population compared with the wild population, and significant genetic differentiation between the wild population and the hatchery samples ($F_{ST}$=0.058, P<0.001). These microsatellite loci may be valuable for future population genetic studies, monitoring changes in the genetic variation within stocks in a commercial breeding program, conservation genetics, and molecular assisted selective breeding of the mi-iuy croaker in the future.

• 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.

• Asian-Australasian Journal of Animal Sciences
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• v.30 no.2
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• pp.154-159
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• 2017

Objective: This study was designed to characterize the DNA polymorphisms of the melanocortin-1 receptor (MC1R) gene in indigenous Saudi Arabian sheep breeds exhibiting different color coats, along with individuals of the Sawaknee breed, an exotic sheep imported from Sudan. Methods: The complete coding region of MC1R gene including parts of 3' and 5' untranslated regions was amplified and sequenced from three the indigenous Saudi sheep; Najdi (generally black, n = 41), Naeimi (generally white with brown faces, n = 36) and Herri (generally white, n = 18), in addition to 13 Sawaknee sheep. Results: Five single nucleotide polymorphisms (SNPs) were detected in the MC1R gene: two led to nonsynonymous mutations (c.218 T>A, p.73 Met>Lys and c.361 G>A, p.121 Asp>Asn) and three led to synonymous mutations (c.429 C>T, p.143 Tyr>Tyr; c.600 T>G, p.200 Leu>Leu, and c.735 C>T, p.245 Ile>Ile). Based on these five SNPs, eight haplotypes representing MC1R $E^d$ and $E^+$ alleles were identified among the studied sheep breeds. The most common haplotype (H3) of the dominant $E^d$ allele was associated with either black or brown coat color in Najdi and Sawaknee sheep, respectively. Two other haplotypes (H6 and H7) of $E^d$ allele, with only the nonsynonymous mutation A218T, were detected for the first time in Saudi indigenous sheep. Conclusion: In addition to investigating the MC1R allelic variation in Saudi indigenous sheep populations, the present study supports the assumption that the two independent nonsynonymous Met73Lys and Asp121Asn mutations in MC1R gene are associated with black or red coat colors in sheep breeds.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.1
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• pp.179-182
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• 2013

Human cytochrome P4502E1 (CYP2E1) is a well-conserved xenobiotic-metabolizing enzyme expressed in liver, kidney, nasal mucosa, brain, lung, and other tissues. CYP2E1 is inducible by ethanol, acetone, and other low-molecular weight substrates and may mediate development of chemically-mediated cancers. CYP2E1 polymorphisms alter the transcriptional activity of the gene. This study was conducted in order to investigate the allele frequency variation in different populations of Andhra Pradesh. Two hundred and twelve subjects belonging to six populations were studied. Genotype and allele frequency were assessed through TaqMan allelic discrimination (rs6413419) and polymerase chain reaction-sequencing (-1295G>C and -1055C>T) after DNA isolation from peripheral leukocytes. The data were compared with other available world populations. The SNP rs6413419 is monomorphic in the present study, -1295G>C and -1055C>T are less polymorphic and followed Hardy-Weinberg equilibrium in all the populations studied. The -1295G>C and -1055C>T frequencies were similar and acted as surrogates in all the populations. Analysis of HapMap populations data revealed no significant LD between these markers in all the populations. Low frequency of $CYP2E1^*c2$ could be useful in the understanding of south Indian population gene composition, alcohol metabolism, and alcoholic liver disease development. However, screening of additional populations and further association studies are necessary. The heterogeneity of Indian population as evidenced by the different distribution of $CYP2E1^*c2$ may help in understanding the population genetic and evolutionary aspects of this gene.

• Biomedical Science Letters
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• v.17 no.2
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• pp.151-155
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• 2011

Short tandem repeats (STRs) loci are the genetic markers used for forensic human identity test. With multiplex polymerase chain reaction (PCR) assays, STRs are examined and measured PCR product length relative to sequenced allelic ladders. In the repeat region and the flanking region of the commonly-used STR may have DNA sequence variation. A mismatch due to sequence variation in the DNA template may cause allele drop-out (i.e., a "null" or "silent" allele) when it falls within PCR primer binding sites. The STR markers were co-amplified in a single reaction by using commercial PowerPlex$^{(R)}$ 16 system and AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kits. Separation of the PCR products and fluorescence detection were performed by ABI PRISM$^{(R)}$ 3100 Genetic Analyzer with capillary electrophoresis. The GeneMapper$^{TM}$ ID software were used for size calling and analysis of STR profiles. Here, this study described a forensic human identity test in which allelic drop-out occurred in the STR system D18S51. During the course of human identity test, two samples with a homozygous (16, 16 and 21, 21) genotype at D18S51 locus were discovered using the PowerPlex$^{(R)}$ 16 system. The loss of alleles was confirmed when the samples were amplified using AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kit and resulted in a heterozygous (16, 20 and 20, 21) genotype at this locus each other. This discrepancy results suggest that appropriate measures should be taken for database comparisons and that allele should be further investigated by sequence analysis and be reported to the forensic community.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.12
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• pp.7091-7094
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• 2013

DNA repair capacity is crucial in maintaining cellular functions and homeostasis. However, it can be altered based on DNA sequence variations in DNA repair genes and this may lead to the development of many diseases including malignancies. Identification of genetic polymorphisms responsible for reduced DNA repair capacity is necessary for better prevention. Homologous recombination (HR), a major double strand break repair pathway, plays a critical role in maintaining the genome stability. The present study was performed to determine the frequency of the HR gene XRCC3 Exon 7 (C18067T, rs861539) polymorphisms in Saudi Arabian population in comparison with epidemiological studies by "MEDLINE" search to equate with global populations. The variant allelic (T) frequency of XRCC3 (C>T) was found to be 39%. Our results suggest that frequency of XRCC3 (C>T) DNA repair gene exhibits distinctive patterns compared with the Saudi Arabian population and this might be attributed to ethnic variation. The present findings may help in high-risk screening of humans exposed to environmental carcinogens and cancer predisposition in different ethnic groups.

• Animal cells and systems
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• v.14 no.1
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• pp.37-44
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• 2010

Black sea bream, Acanthopagrus schlegelii, is a commercially important fish in Korea. As a preliminary investigation into the effect of hatchery rearing for stock enhancement, we examined genetic diversity between wild and farmed black sea bream populations from Jeju using six microsatellite markers. High levels of polymorphism were observed between the two populations. A total of 87 different alleles were found at the loci, with some alleles being unique. Allelic variability ranged from 8 to 22 in the wild population and from 7 to 17 in the farmed one. Average observed and expected heterozygosities were estimated at 0.87 and 0.88 in the wild sample. The corresponding estimates were 0.83 and 0.86 in the farmed sample. Although a considerable loss of rare alleles was observed in the farmed sample, no statistically significant reductions were found in heterozygosity or allelic diversity in the farmed sample, compared with the wild one. Significant genetic heterogeneity was found between the wild and farmed populations. These results suggest that more intensive breeding practices for stock enhancement may have resulted in a further decrease of genetic diversity. Thus, it is necessary to monitor genetic variation in bloodstock, progeny, and target populations and control inbreeding in a commercial breeding program for conservation. This information may be useful for fisheries management and the aquaculture industry.

• Korean Journal of Biological Psychiatry
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• v.8 no.1
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• pp.106-110
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• 2001

Background : Dopamine receptors have been regarded as a strong candidate involved in etiology of schizophrenia and a target for various antipsychotic drugs. The purpose of our study was to investigate whether dopamine $D_1$ receptor(DRD1) gene polymorphisms would predict the treatment response to antipsychotics in schizophrenia. Method : One hundred thirty-four schizophrenic patients, who met DSM-IV criteria for schizophrenia were entered into a 48 -week study. The psychopathology of the patients was assessed at baseline, 12th, 24th 48th weeks of treatment by PANSS. Responders were defined by a 20% of the reduction in total PANSS score at end point. The genomic DNA fragment corresponding to nucleotides of dopamine $D_1$ receptor gene was amplified by polymerase chain reaction(PCR). Result: Neither allelic frequencies nor genotypes for dopamine $D_1$ receptor differed significantly between responders and non-responders. Also, there was no difference of changes of PANSS scores among three genotype groups of the dopamine $D_1$ receptor. Conclusion : Allelic variation in the dopamine $D_1$ gene is not associated with individual differences in antipsychotic response.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.225-225
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• 2022

Rice is a major food crop consumed by approximately half of the world's population. Heading date is one of the major agronomic traits and has a wide impact on the productivity and quality of rice. Recently, shortening the growth period of rice through modulating heading date has been emphasized as one of the most effective strategies for reducing methane emissions from paddy fields. OsPRR37, a major heading date gene in rice, represses flowering under both short-day and long-day conditions. Plants carrying the loss-of-function alleles of OsPRR37 have been reported to flower approximately seven days and 20 days earlier than those carrying the functional alleles in short day and long day conditions, respectively. In this study, we investigated the nucleotide sequence variation existing in the exonic regions of OsPRR37 and catalogued the allelic distribution in 208 Korean rice cultivars. We used four sets of primers for amplifying and sequencing the eight exons of OsPRR37. As a result, two types of loss-of-function alleles and four types of functional alleles were found in 208 Korean rice cultivars. Interestingly, only three cultivars (Jinbuolbyeo, Jinseolchal, and Mimyeon) carried loss-of-function alleles while 205 carried functional alleles, indicating that OsPRR37 loss-of-function alleles have been used very rarely in Korean rice breeding programs. To generate useful information for the development of early-maturing rice cultivars, our future work will focus on analyzing the effect of different OsPRR37 alleles on heading date and other major agronomic traits.