• 생물정신의학
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• 제1권1호
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• pp.79-87
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• 1994

For the purpose of evaluating the human leukocyte antigen(HLA) disease-association with bipolar disorder, HLA class I and class II allelic frequencies were assessed in 37 bipolar patients and were compared to the data from normal population. HLA class 1 typing was performed with microlymphocytotoxicity method while class II(DRB1) genotyping with reverse dot blot hybridization and sandwich method. Statistical analysis consisted of relative risk, Haldane's modified relative risk, Fisher's exact test and Bonferoni's corrected P. The results were as follows : 1) Bipolar patients showed increased allelic frequency of HLA A3 which has statistical significance. 2) Allelic frequencies of HLA B7, B14 and B54 were higher, while those of B51 and B55 were lower in bipolar patients, but they were not statistically significant. 3) Both of increased frequencies of DR2 in bipolar patients and DR15 in normal controls had statistical significance. The results of the present study suggested that some of HLA allelic types might be associated with bipolar disorder. To clarify the genetic influence of HLA to bipolar disorder, we should do consecutive study of bipolar disorder with new information about HLA system including alleles.

• 생명과학회지
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• 제18권9호
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• pp.1225-1229
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• 2008

본 연구는 한우의 5번 염색체 내에 존재하고 있는 10개의 microsatellite marker의 대립유전자 빈도를 이용하여 한우의 경제형질과의 연관성을 지닌 좌위를 탐색하기 위하여 실시하였다. 한우 326두를 대상으로 10개의 유전좌위를 분석한 결과 총 169개의 대립유전자가 검출되었다. 모든 유전좌위에서 다형성이 검출되었으며 각 유전좌위 별 대립유전자의 수는 9에서 28개로 나타났으며 평균 16.9로 나타났다. 가장 높은 PIC 값을 가진 유전좌위는 DIK2400(0.908)이었으며 가장 낮은 유전좌위는 DIK2718 (0.603)으로 검출되었다. 관측된 이형접합도에서는 DIK1048 (0.655)가 가장 높게 나타났으며, DIK2400 (0.906)은 가장 낮은 것으로 검출되었다. 분석된 MS marker들의 대립유전자의 빈도를 이용하여 경제형질과의 연관성을 탐색하기 위하여 각 경제형질별 육종가를 대상으로 상위그룹과 하위그룹으로 나누어 Chi-square검정을 실시하였다. 분석결과 DIK2828의 239 대립유전자는 근내지방도에서 상위그룹과 하위그룹의 빈도차가 유의적인 차이를 보이는 것으로 나타났다. BMC1009의 279 대립유전자는 도체중과 등지방두께에서 유의적인 차이를 확인하였으며 285대립유전자는 도체중, 등지방두께 그리고 근내지방도에서 유의적인 차이가 확인되었다. DIK4329의 200대립유전자는 등심단면적과 등지방두께에서 유의적인 차이가 확인되었다. 본 연구에서 유의적인 차이가 확인된 유전자좌위는 5번 염색체 내 20 (DIK2828), 41 (BMC1009) 그리고 95 (DIK4329) cM로 나타났다.

• Parasites, Hosts and Diseases
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• 제53권2호
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• pp.177-187
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• 2015

Merozoite surface proteins (MSPs) of malaria parasites play critical roles during the erythrocyte invasion and so are potential candidates for malaria vaccine development. However, because MSPs are often under strong immune selection, they can exhibit extensive genetic diversity. The gene encoding the merozoite surface protein-3 (MSP-3) of Plasmodium falciparum displays 2 allelic types, K1 and 3D7. In Thailand, the allelic frequency of the P. falciparum msp-3 gene was evaluated in a single P. falciparum population in Tak at the Thailand and Myanmar border. However, no study has yet looked at the extent of genetic diversity of the msp-3 gene in P. falciparum populations in other localities. Here, we genotyped the msp-3 alleles of 63 P. falciparum samples collected from 5 geographical populations along the borders of Thailand with 3 neighboring countries (Myanmar, Laos, and Cambodia). Our study indicated that the K1 and 3D7 alleles co-existed, but at different proportions in different Thai P. falciparum populations. K1 was more prevalent in populations at the Thailand-Myanmar and Thailand-Cambodia borders, whilst 3D7 was more prevalent at the Thailand-Laos border. Global analysis of the msp-3 allele frequencies revealed that proportions of K1 and 3D7 alleles of msp-3 also varied in different continents, suggesting the divergence of malaria parasite populations. In conclusion, the variation in the msp-3 allelic patterns of P. falciparum in Thailand provides fundamental knowledge for inferring the P. falciparum population structure and for the best design of msp-3 based malaria vaccines.

• Parasites, Hosts and Diseases
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• 제53권1호
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• pp.129-134
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• 2015

Schistosoma haematobium is one of the most prevalent parasitic flatworms, infecting over 112 million people in Africa. However, little is known about the genetic diversity of natural S. haematobium populations from the human host because of the inaccessible location of adult worms in the host. We used 4 microsatellite loci to genotype individually pooled S. haematobium eggs directly from each patient sampled at 4 endemic locations in Africa. We found that the average allele number of individuals from Mali was significantly higher than that from Nigeria. In addition, no significant difference in allelic composition was detected among the populations within Nigeria; however, the allelic composition was significantly different between Mali and Nigeria populations. This study demonstrated a high level of genetic variability of S. haematobium in the populations from Mali and Nigeria, the 2 major African endemic countries, suggesting that geographical population differentiation may occur in the regions.

• Molecules and Cells
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• 제19권3호
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• pp.365-374
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• 2005

To find potential targets of novel antimicrobial agents, we identified essential genes of Streptococcus pneumoniae using comparative genomics and allelic replacement mutagenesis. We compared the genome of S. pneumoniae R6 with those of Bacillus subtilis, Enterococcus faecalis, Escherichia coli, and Staphylococcus aureus, and selected 693 candidate target genes with > 40% amino acid sequence identity to the corresponding genes in at least two of the other species. The 693 genes were disrupted and 133 were found to be essential for growth. Of these, 32 encoded proteins of unknown function, and we were able to identify orthologues of 22 of these genes by genomic comparisons. The experimental method used in this study is easy to perform, rapid and efficient for identifying essential genes of bacterial pathogens.

• Asian-Australasian Journal of Animal Sciences
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• 제22권11호
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• pp.1487-1494
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• 2009

The major histocompatibility complex (MHC) plays well-defined roles in eliciting immune responses and combating infectious diseases. The major histocompatibility complex of cattle is referred to as BoLA (Bovine Lymphocyte Antigen). This genetic system is among the most polymorphic. In the present study, polymorphism of the BoLA- DRB3.2 locus in three Bos indicus breeds viz., Sahiwal, Rathi and Hariana was studied by polymerase chain reaction restriction fragment length polymorphism technique using the enzymes RsaI, Bst Y1 and Hae III. Both Sahiwal and Rathi are good Indian dairy breeds and survive under tough tropical conditions, while Hariana is a prominent dual-purpose breed reared both as a dairy animal and for bullock production. A total of 30 different BoLADRB3.2 alleles were observed to be present in the 3 Bos indicus breeds. Certain alleles were common amongst the three breeds while there were others that were unique to each breed. Allelic distribution amongst the three breeds showed that each breed had a unique allelic distribution pattern that was different from each other and also different from the earlier breeds studied so far for the existence of allelic variation at this locus. A dendogram was constructed based on the frequencies of the BoLA-DRB3 alleles using the UPGMA method. The Rathi and Hariana animals were genetically the most apart. The Hariana animals clustered on a different branch from the other two breeds viz. the Rathi and the Sahiwal. The smallest genetic distances for the DRB3 alleles were those between Sahiwal and Rathi (0.5461) while genetic distance between Hariana and Sahiwal was 0.6123. A comparison of the allelic frequencies of the BoLADRB3.2 locus in these 3 breeds viz. Sahiwal, Hariana and Rathi with the allelic frequencies present in the previously characterized Bos indicus Kankrej breed, which is a dual purpose breed reared both as a draught and a dairy animal, showed that the Bos indicus Sahiwal and Rathi breeds clustered into one group while the Hariana and Kankrej breeds formed another group. The Rathi and Sahiwal showed the least genetic distance of 0.5461 amongst the breeds whereas the Rathi and Kankrej, with a Nei''s genetic distance of 1.1622, were genetically the most distant apart.

• Asian Pacific Journal of Cancer Prevention
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• 제15권18호
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• pp.7763-7768
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• 2014

Background: Gastritis and gastric cancer are the most common diseases in the Kazakh population. Polymorphisms in genes coding of cytokines have been played important role with gastric disease risk. The risk alleles of cytokines in patients with gastritis can predict the risk of developing gastric cancer. The aim of this study was to investigate cytokine gene polymorphisms as risk factors for the development of gastritis in a case-control study with gastritis patients and healthy individuals from the Kazakh ethnic group, living in North Kazakhstan. Materials and Methods: The polymerase chain reaction followed by direct sequencing were used for detection of two functional polymorphisms in the IL1 gene family, and TaqMan SNP Genotyping Assay Sets were applied for three potentially functional polymorphisms in the IL10 gene, and one in the TNFA promoter. Results: Association analysis of studied allelic variants and the development of gastritis in H. pylori-positive patients showed that IL1B -31C/C, IL1B -511T/T and IL1RN -2/2 allelic variants were associated with development of gastritis (OR=1.8 (1.07-3.16), p=0.025; OR=1.7 (1.04-2.99), p=0.035, and OR=4.92 (2.45-9.85), p<0.001) respectively. Haplotype C-Т that combines both homozygous allelic variants of IL1B gene also had a statistically significant association with slightly higher OR (OR: 1.43, 95% CI: 1.08-1.88). Conclusions: The data from the current study showed that the genotype IL-1B -511Т/-31C-IL1-RN-2 and H. pylori infection increase risk of gastritis in the Kazakh population. That genotype combination might be a factor increasing the risk of developing gastric cancer.

• Journal of Acupuncture Research
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• 제23권2호
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• pp.173-179
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• 2006

Objectives : In this study, we investigated the SNP (single-nucleotide polymorphism) of IL10 in patients with stroke. The present study was undertaken to see if specific genotypic and allelic variations are associated with stroke in the Korean population. Methods : Blood samples from all subjects were obtained for DNA extraction and collected in EDTA tube. Genomic DNA was extracted using DNA isolation kit for Mammalian Blood (Boehringer Mannheim, IN, USA). The extracted DNA was amplified by polymerase chain reaction (PCR). Pyrosequencing was performed according to manufacturer's standard protocol. Results : There was no statistically significant genotypic distribution difference between control and stroke group. The frequencies of A/A homozygotes and A/C heterozygotes among control subjects were 91 (87.5%) and 13 (12.5%). The frequencies of A/A and A/C among the stroke patients were 85 (89.5%) and 10 (10.5%). There was not statistically significant allelic frequency difference between control and stroke group. The allelic frequency of A and C was 195 (93.8%) and 13 (6.2%) among the control subjects and 180 (94.7%) and 10 (5.3%) in stroke patients, respectively. Conclusion : The cytokine IL10 may not be pathogenetic factors in stroke. But further studies including different cytokine gene can be a useful for predicting stroke. Establishment of more systemic approach and high quality of prospective cohorts will be necessary for the good prediction of genetic markers.

• Communications for Statistical Applications and Methods
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• 제22권2호
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• pp.181-199
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• 2015

In a short history, RNA-seq data have established a revolutionary tool to directly decode various scenarios occurring on whole genome-wide expression profiles in regards with differential expression at gene, transcript, isoform, and exon specific quantification, genetic and genomic mutations, and etc. RNA-seq technique has been rapidly replacing arrays with seq-based platform experimental settings by revealing a couple of advantages such as identification of alternative splicing and allelic specific expression. The remarkable characteristics of high-throughput large-scale expression profile in RNA-seq are lied on expression levels of read counts, structure of correlated samples and genes, larger number of genes compared to sample size, different sampling rates, inevitable systematic RNA-seq biases, and etc. In this study, we will comprehensively review how robust Bayesian and non-parametric methods have a better performance than classical statistical approaches by explicitly incorporating such intrinsic RNA-seq specific features with flexible and more appropriate assumptions and distributions in practice.

• 동의생리병리학회지
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• 제19권2호
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• pp.515-519
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• 2005

We hypothesized that the IL10 gene is important candidate in the development of Bell's palsy and specific genotypic and allelic variations should be associated with Bell's palsy in the Korean population. In this study, we assessed the SNP (single-nucleotide polymorphism) of IL10 in patients with Bell's palsy. 62 patients with Bell's palsy were selected from the subjects who visited for the Bell's palsy service of the department of acupuncture & moxibustion, college of Oriental Medicine, Daegu Haany University from May 2002 to May 2003. Pyrosequencing was performed for genetic analyses. There was no statistically significant genotypic distribution difference between control and Bell's palsy group And there was not statistically significant allelic frequency difference between control and Bell's palsy group. In this study the IL10 genotypemight not be the risk factor of Bell's palsy patients in Korean. studies will be necessary for the exact genetic markers. Establishment of more systemic approach and high quality of prospective cohorts will be necessary for the good prediction of genetic markers.