• Korean Journal of Biological Psychiatry
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• v.2 no.1
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• pp.57-62
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• 1995

Objects : Clozapine, prototype of the atypical neuroleptics, was known to have unique antipsychotic effect with a few extrapyramidal effects. While most typical antipsychotic agents mainly block $D_2$ receptors, clozapine has higher affinity for dopamine $D_4$ receptor than for $D_2$ receptor. Many researchers have tried to find out the relationship between schizophrenia and the abnormality of the genes coding dopamine receptors. But no consistent findings were reported. Recently, dopamine $D_4$ receptor was fully sequenced, and the alleles of dopamine $D_4$ receptor gene was found in unusual form on the 48th base pair. Our study was performed to identify the distribution of the dopamine $D_4$ receptor alleles of schizophrenics and normal controls, and whether any difference between the dopamine $D_4$ receptor alleles of schizophrenics and that of normal controls exists. Methods : DNA was extracted from the blood of schizophrenic patients(N=60) and normal controls(N=60). Part of the dopamine $D_4$ receptor gene was amplified by PCR, and amplified DNA was electrophoresed. Authors compared the distribution of the alleles of dopamine $D_4$ receptor gene of normal controls and that of schizophrenic patients. Results : Six kinds of alleles of $D_4$ receptor were observed both groups. The fourth repeat form of alleles was the most common in both schizophrenic patients(75.8%) and normal controls(70.3%), so there was not significant difference between two groups. Conclusion : The Difference in the distribution of the dopamine $D_4$ receptor gene alleles is not thought to be responsible for the pathophysiology of the schizophrenia. However, the difference in the expression of the dopamine $D_4$ receptor gene between normal and schizophrenia is left to be scrutinized.

• Clinical and Experimental Pediatrics
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• v.46 no.4
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• pp.335-339
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• 2003

Purpose : Surfactant protein A(SP-A) is involved in surfactant physiology and structure, and plays a major role in innate host defense and inflammatory processes in the lung. Steroid therapy is widely used for mothers who threaten to deliver prematurely and also used commonly in the management of preterm infants with chronic lung disease. Two SP-A genes(SP-A1, SP-A2) and several alleles have been characterized for each SP-A gene in human. Preliminary evidence indicates that differences may exist among alleles in response to Dexamethasone(Dexa) and that the SP-A 3'UTR plays a role in this process. We studied whether 3'UTR-mediated differences exist among the most frequently found SP-A alleles in response to Dexa. Methods : Constructs containing the 3'UTR from eight different SP-A alleles were made using luciferase as a the reporter gene. These constructs were driven by the SV40 promotor and were transfected along with a transfection control vector in H441 cells that express SP-A. The activity of the reporter gene in the presence or absence of Dexa(100 nM) treatment was measured. All the experiments for the eight SP-A alleles studied, were performed in triplicate and repeated five times. The results were normalized to the transfection control. Results : Expression of alleles of 6A3, 6A, 1A were significantly decreased in response to Dexa. Conclusion : Three UTR mediated differences exist among human SP-A variants both in the basal expression and in response to Dexa. These genotype-dependent differences may point to a need for a careful consideration of individual use of steroid treatment in the prematurely born infant.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.50 no.6
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• pp.806-811
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• 2017

A multiplex PCR system comprising 14 microsatellite markers was developed for genotyping analysis of the sea cucumber Stichopus japonicus. A total of 286 samples were used to evaluate genetic polymorphisms and forensic parameters of the microsatellite loci. In a single PCR reaction, all 14 loci were uniformly amplified and a total of 269 alleles were identified. The AJ19024 locus had the largest number of alleles (46), and its discriminatory power and exclusion power were 0.99 and 0.76, respectively. The fewest alleles (8) were present at the Psj2575 locus, which provided the lowest discriminatory power (0.81) and exclusion power (0.20). The mean number of alleles, mean heterozygosity, mean discrimination power and mean exclusion power per locus were 19.21, 0.70, 0.93, and 0.46, respectively. The combined matching probability for the 14 loci was $9.64{\times}10^{-19}$, and the combined power of exclusion was 0.999995. Thus, the forensic parameters evaluated in the present study demonstrated the utility of our multiplex PCR system for biological tracing methods, such as individual identification and paternity testing, in the sea cucumber.

• 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.

• Korean Journal of Medicinal Crop Science
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• v.21 no.3
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• pp.220-228
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• 2013

This study was conducted to assess the genetic diversity and population structure of 70 amaranth accessions collected from South and Southeast Asia using 14 simple sequence repeat (SSR) markers. In total, 67 alleles were detected, with an average of 4.79 per locus. Rare alleles comprised a large portion (46.3%) of the detected alleles, and 29 unique alleles associated with rice accessions were also discovered. The mean major allele frequency (MAF), genetic diversity (GD) and polymorphic information content (PIC) of the 14 SSR loci were 0.77, 0.36, and 0.34, respectively. A model-based structural analysis revealed the presence of three subpopulations. The genetic relationships revealed by the neighbor-joining tree method were fairly consistent with the structure-based membership assignments for most of the accessions. All 70 accessions showed a clear relationship to each cluster without any admixtures. We observed a relatively low extent of genetic exchange within or among amaranth species from South and Southeast Asia. The genetic diversity results could be used to identify amaranth germplasms and so facilitate their use for crop improvement.

• The Korean Journal of Applied Statistics
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• v.15 no.1
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• pp.85-105
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• 2002

To explore the relationships among frequencies for sets of alleles, within or between loci, is one of the first analyses in population genetic study. The general question is whether the frequency of a set of alleles is the same as the product of each of the separate allele frequencies. For two alleles of a single locus, Hardy-Weinberg equilibrium is tested and for an allele from each of two loci, linkage disequilibrium is tested. However, it is more useful if we can quantify and graphically represent this information. In this study, we suggest graphical methods to find associations between alleles. We also analyze the STR data of Korean population as an illustration.

• Genomics & Informatics
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• v.17 no.1
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• pp.9.1-9.5
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• 2019

In previous studies, we demonstrated that some sites in the first intron likely regulate gene expression. In the present work, we sought to further confirm the functional relevance of first intron sites by estimating the quantity of rare alleles in the first intron. A basic hypothesis posited herein is that genomic regions carrying more functionally important sites will have a higher proportion of rare alleles. We estimated the proportions of rare single nucleotide polymorphisms with a minor allele frequency < 0.01 located in several histone marks in the first introns of various genes, and compared them with those in other introns and those in 2-kb upstream regions. As expected, rare alleles were found to be significantly enriched in most of the regulatory sites located in the first introns. Meanwhile, transcription factor binding sites were significantly more enriched in the 2-kb upstream regions (i.e., the regions of putative promoters of genes) than in the first introns. These results strongly support our proposal that the first intron sites of genes may have important regulatory functions in gene expression independent of promoters.

• International Journal of Industrial Entomology and Biomaterials
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• v.45 no.2
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• pp.49-55
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• 2022

A total of 20 mulberry varieties preserved in Korea were typed for eight polymorphic microsatellite loci. We obtained 6 to 15 alleles per locus with an average value of 10.6, per-locus observed heterozygosity ranging from 0.35 to 1.00, and per-locus polymorphic information content (PIC) ranging from 0.61 to 0.87, indicating that most loci are highly variable. Phylogenetic analysis using the eight microsatellite loci was sufficiently suitable for classifying 20 mulberry varieties preserved in Korea. A total of 160 variety-specific apomorphic alleles were obtained from eight loci discriminated 20 mulberry varieties. These variety-specific alleles from this analysis are expected to be useful for the discrimination of other mulberry varieties. Furthermore, a substantial number of homozygote loci, represented by 60 among 180 alleles in eight loci were found. These results collectively suggest that these microsatellite locus primers are potentially crucial molecular markers for the eventual classification of mulberry varieties that are preserved as hundreds in Korea.

• Korean Journal of Mathematics
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• v.31 no.1
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• pp.17-23
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• 2023

For a locus with two alleles (I^A and I^B), the frequencies of the alleles are represented by $$p=f(I^A)={\frac{2N_{AA}+N_{AB}}{2N}},\;q=f(I^B)={\frac{2N_{BB}+N_{AB}}{2N}}$$ where N_AA, N_AB and N_BB are the numbers of I^AI^A, I^AI^B and I^BI^B respectively and N is the total number of populations. The frequencies of the genotypes expected are calculated by using p², 2pq and q². Choi defined the density and operator for the value of the frequency of one gene and found the adapted partial differential equation as a follow-up for the frequency of alleles and applied this adapted partial differential equation to several diploid model [1]. In this paper, we find adapted equations for the model for selection against recessive homozygotes and in case that the alley frequency changes after one generation of selection when there is no dominance. Also we consider the triploid model with three alleles I^A, I^B and i and determine whether six genotypes observed are in Hardy-Weinburg for equilibrium.

• Asian-Australasian Journal of Animal Sciences
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• v.11 no.4
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• pp.422-427
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• 1998

The gene and genotypic frequencies of ${\kappa}$-casein (${\kappa}$-CN), ${\beta}$-lactoglobulin (${\beta}$-LG), growth hormone (bGH) and prolactin (bPRL) loci in Korean cattle were investigated using PCR-RFLP analyses. Genomic DNA samples were obtained from 290 cows and 30 AI bulls. In both cows and bulls, the most predominant genotypes of ${\kappa}$-CN, ${\beta}$-LG, bGH and bPRL loci were AB, BB, AA and AA, respecitively. The frequencies of A and B alleles for ${\kappa}$-CN locus were .612 and .388 for cows and .567 and .433 for bulls. The respective frequencies of A and B alleles for ${\beta}$-LG locus were .153 and .847 in cows and .217 and .783 in bulls. The frequencies of A and B alleles for bGH locus were .769 and .231 in cows and .784 and .216 in bulls, respectively. The frequencies of A and B alleles for bPRL locus were .678 and .322 for cows and .767 and .233 for bulls. Differences in frequencies of these alleles were not significant between cows and bulls at all loci examined. If the DNA polymorphisms of these candidate genes are associated with economically important traits, they could serve as genetic markers for genetic improvement in future marker-assisted selection programs in Korean cattle.