• 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.

• Molecules and Cells
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• v.21 no.2
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• pp.302-307
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• 2006

Two Epstein-Barr virus (EBV) types, type 1 and type 2, maintain the same allelic specificity at four genomic loci encoding the EBNA2, -3A, -3B, and -3C proteins. We have previously described 16 EBV-transformed B-lymphoblastoid cell lines derived from Korean cancer patients, and the EBNA2 types of the EBV isolates therein. In this study, the allelic types of the EBNA2, -3A, -3B, and -3C genes of these EBV isolates were determined. We report the identification of two distinct types of naturally occurring intertypic recombinants, one with genotype EBNA2 type1/EBN3A, -3B, -3C type 2 and the other with genotype EBNA2, -3A type 1/EBNA3B, -3C type 2. The existence of these intertypic recombinants indicates that various intertypic EBV strains may be circulating in the human population, in addition to typical EBV-1 and EBV-2 strains.

• Journal of Crop Science and Biotechnology
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• v.10 no.2
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• pp.106-111
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• 2007

Increasing genetic variability with mutagenic agents has been broadly employed in plant breeding because it has the potential to alter one or more desirable traits. In this study, a molecular analysis assessed by Amplified Fragment Length Polymorphisms(AFLPs) and a morphological analysis based on seedlings subjected to aluminum stress were compared. Also, an analysis of allelic frequencies was performed to observe unique alleles present in the pool. Genetic distances ranging from 0.448 to 0.953 were observed, suggesting that mutation inducing was effective in generating variability. The genetic distances based on morphological data ranged from 0(genotypes 22 and 23) to 30.38(genotypes 15 and 29). In the analysis of allelic frequency, 13 genotypes presented unique alleles, suggesting that mutation inducing was also targeting unique sites. Mutants with good performance under aluminum stress(9, 15, 18 and 27) did not form the same clusters when morphological and molecular analyses were compared, suggesting that different genomic regions may be responsible for their better performance.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.20 no.1
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• pp.3-9
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• 2009

Objectives : Tourette disorder is known to be a disease with a strong genetic trait. There has been some recent research on the relationship between the allelic frequency distribution and Tourette disorder. In Korea, the relationship between the genetic type and the alleles for the COMT gene has been studied in Tourette patients. Methods : Seventy two patients who were diagnosed with Tourette disorder according to the DSM-IV diagnostic criteria were selected for this study. The diagnosis and clinical features were confirmed by the Yale Global Tic Severity Scale. For the control group, the parents of the patients were chosen. Blood samples were taken from the 289 subjects. DNA was extracted from the blood lymphocytes and PCR was performed for assessing COMT gene. Results : On comparing the Tourette disorder transmitted group and the not-transmitted group, no significant difference was seen between the COMT genetic type and the allelic distribution. Conclusion : Even though this result is viewed that there is no relationship between Tourette disorder and the COMT gene, it is difficult to firmly accept this negative result. Follow up studies with a larger patient population or pure subgroups are expected in the future.

• Biomolecules & Therapeutics
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• v.23 no.2
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• pp.189-194
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• 2015

P450 1A2 is responsible for the metabolism of clinically important drugs and the metabolic activation of environmental chemicals. Genetic variations of P450 1A2 can influence its ability to perform these functions, and thus, this study aimed to characterize the functional significance of three P450 1A2 allelic variants containing nonsynonymous single nucleotide polymorphisms (P450 $1A2^*8$, R456H; $^*15$, P42R; $^*16$, R377Q). Variants containing these SNPs were constructed and the recombinant enzymes were expressed and purified in Escherichia coli. Only the P42R variant displayed the typical CO-binding spectrum indicating a P450 holoenzyme with an expression level of ~ 170 nmol per liter culture, but no P450 spectra were observed for the two other variants. Western blot analysis revealed that the level of expression for the P42R variant was lower than that of the wild type, however the expression of variants R456H and R377Q was not detected. Enzyme kinetic analyses indicated that the P42R mutation in P450 1A2 resulted in significant changes in catalytic activities. The P42R variant displayed an increased catalytic turnover numbers ($k_{cat}$) in both of methoxyresorufin O-demethylation and phenacetin O-deethylation. In the case of phenacetin O-deethylation analysis, the overall catalytic efficiency ($k_{cat}/K_m$) increased up to 2.5 fold with a slight increase of its $K_m$ value. This study indicated that the substitution P42R in the N-terminal proline-rich region of P450 contributed to the improvement of catalytic activity albeit the reduction of P450 structural stability or the decrease of substrate affinity. Characterization of these polymorphisms should be carefully examined in terms of the metabolism of many clinical drugs and environmental chemicals.

• Korean Journal of Biological Psychiatry
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• v.7 no.1
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• pp.64-73
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• 2000

There are several candidate genes in genetic study of alcoholism. Among them, allelic associations have been reported between MAOA CA repeat polymorphism and alcohol dependence, recently. And also, several studies have been investigated genotype-phenotype relationships between MAOA CA repeat polymorphism and clinical manifestations. The authors tried to identify differences in allelic frequency of MAOA CA repeat polymorphism between alcohol dependence and controls, and in behavioral trait and clinical characteristics according to MAOA CA repeat polymorphism. We also tried to investigate genotype-phenotype relationships between MAOA CA repeat polymorphism and behavioral trait such as aggression. We examined 49 male patients with alcohol dependence(DSM-IV) who had been admitted in Yong-In Mental Hospital from June 1st 1998 to October 31th 1998. We performed semistructured interview for demographic and clinical characteristics. Self-report questionnaire for BDHI(Buss-Durkey Hostility Inventory) was given to all subject at least 4weeks later after admission. Using polymerase chain reaction and polyacrylamide gel electrophoresis, MAOA CA repeat polymorphism were observed in 52 male controls and 49 male patients with alcohol dependence. We devided alcoholic patients into two groups according to allelic length of MAOA CA repeat polymorphism ; alcoholics with short alleles(${\leq}$119bp, N=20) and alcoholics with long alleles(${\geq}$123bp, N=29). T-test, ${\chi}^2$-test and Fisher exact probability test were used for statistical analysis. There were no significant differences in frequency of each allele and short and long alleles of MAOA CA repeat polymorphism between alcoholics and controls. But there were significant differences in clinical symptoms and behavioral trait between alcoholics with short and long alleles. In clinical symptoms, alcoholics with long alleles used alcohol more frequently during one month before admission, had much more maximum amount of beer drinking and reported withdrawal seizure more frequently than with short alleles. In contrary, alcoholics with short alleles expressed depressed mood and guilty feeling more frequently and wanted complete abstinence as a treatment goal more frequently than with long alleles. In behavioral trait, alcoholics with long alleles had higher total aggression score and showed much more self-assertive attitude(subscale of expression of aggression) than with short alleles. Allelic length of MAOA CA repeat polymorphism was correlated with self-assertive attitude and accounted for 9% of the variance of self-assertive attitude. And also, predictable variables of allelic length of MAOA CA repeat polymorphism were drinking frequency and self-assertive attitude. Our findings suggest that MAOA CA repeat polymorphism may provide some behavior modifying role especially in self-assertive attitude and indirect symptom modifying role in Korean male alcoholics.

• 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-Australasian Journal of Animal Sciences
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• v.29 no.4
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• pp.564-570
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• 2016

The Sal-like 1 gene (Sall1) is essential for kidney development, and mutations in this gene result in abnormalities in the kidneys. Mice lacking Sall1 show agenesis or severe dysgenesis of the kidneys. In a recent study, blastocyst complementation was used to develop mice and pigs with exogenic organs. In the present study, transcription activator-like effector nuclease (TALEN)-mediated homologous recombination was used to produce Sall1-knockout porcine fibroblasts for developing knockout pigs. The vector targeting the Sall1 locus included a 5.5-kb 5' arm, 1.8-kb 3' arm, and a neomycin resistance gene as a positive selection marker. The knockout vector and TALEN were introduced into porcine fibroblasts by electroporation. Antibiotic selection was performed over 11 days by using $300{\mu}g/mL$ G418. DNA of cells from G418-resistant colonies was amplified using polymerase chain reaction (PCR) to confirm the presence of fragments corresponding to the 3' and 5' arms of Sall1. Further, mono- and bi-allelic knockout cells were isolated and analyzed using PCR-restriction fragment length polymorphism. The results of our study indicated that TALEN-mediated homologous recombination induced bi-allelic knockout of the endogenous gene.

• 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.

• 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.