• BMB Reports
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• 제42권12호
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• pp.834-839
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• 2009

DNA methyltransferase (DNMT) 1 is the key enzyme responsible for DNA methylation, which often occurs in CpG islands located near the regulatory regions of genes and affects transcription of specific genes. In this study, we examined the possible association of DNMT1 polymorphisms with HBV clearance and the risk of hepatocellular carcinoma (HCC). Seven common polymorphic sites were selected by considering their allele frequencies, haplotype-tagging status and LDs for genotyping in larger-scale subjects (n = 1,100). Statistical analysis demonstrated that two intron polymorphisms of DNMT1, +34542G > C and +38565G > T, showed significant association with HBV clearance in a co-dominant model (OR = 1.30, $P^{corr}$ = 0.03) and co- dominant/recessive model (OR = 1.34-1.74, $P^{corr}$ = 0.01-0.03), respectively. These results suggest that two intron polymorphisms of DNMT1, +34542G > C and +38565G > T, might affect HBV clearance.

• 대한의생명과학회지
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• 제18권2호
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• pp.139-145
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• 2012

RFLP of PGC-$1{\alpha}$ gene of 285 Korean women was analyzed by PCR and HpaII restriction. We evaluated the correlation between PGC 1 genotypes and biochemical results, using the results of RFLP. Study subjects were divided into 3 groups: normal group (who has been average value of serum biochemical analysis), upper group (who has been higher value than average value), and low group (who have been lower value than average value). The frequencies of $H_1H_1$, $H_1H_2$, and $H_2H_2$ genotypes were 92 (32%), 85 (32%), and 108 (38%) respectively, and the ratio between $H_1$ and $H_2$ alleles was 1:1.1. There were no meaningful differences between biochemical results and PGC-$1{\alpha}$ genotypes in the normal group. But, in upper group, there was significant difference in total cholesterol (P=0.04) level. In the result of Turkey multiple comparison test, the P value of $H_1H_1$ and $H_2H_2$ was 0.059. In upper group, there were noticeable differences also in triglyceride (P=0.034) level and glucose (P=0.043) level, respectively. There were important differences between $H_1H_1$ type and $H_1H_2$ type in triglyceride (P=0.029) level and between $H_1H_2$ type and $H_2H_2$ type in glucose (P=0.040) level. This study may provide the PGC-$1{\alpha}$ genotype patterns for the amounts of lipid and glucose in the serum. $H_2$ allele (Ser482) of PGC-$1{\alpha}$ gene may be related with upper group in Korean women.

• Animal Systematics, Evolution and Diversity
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• 제11권2호
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• pp.207-221
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• 1995

남한해역에서 채집된 Raja속 어류를 Ishihara(1987)의 분류기준에 따라 동정한 결과 Raja(Okamejei) meerdervoortii Bleeker(오동가오리), R.(O.) acutispina Ishiyama(국명신칭:무늬홍어), R.(O.) kenojei Muller et Henle(홍어), R.(Dipturus) kwangtungensis Chu(국명신칭: 참홍어), R.(D.)pulchra Liu(눈가오리)등 5종이 확인되었다. 5종 10집단 165개체에 대한 전기영동법을 이용한 동위효소 분석 결과 13개의 효소 및 비효소성 단백질에서 24개의 유전자를 검출하고 대립인자 빈도를 산출하여 종간 비교를 실기하였다. 5종 중 R.(O.) kenojei 집단은 4집단 간 평균 S = 0.966으로 매우 가까운 유전적 근연치를 나타냈으며, R.(O.) meerdervoortii와 R.(O.) acutispina는 유전적 근연치가 S = 0.749였으며, R.(O.) kenojei와 R.(D.) kwangtungensis는 S = 0.829였으나, R.(D.) pulchra는 다른 4종과 S = 0.597의 값을 나타내어 유전적 근연관계가 제일 멀게 나타났다. R.(D.) kwangtungensis의 경우 동일 아속인 Dipturus 아속에 속하는 R.(D.) pulchra와는 유전적 근연치가 S = 0.648로 뚜렷한 차이가 있었으나, Okamejei 아속에 속하는 R.(O.) kenojei와는 S = 0.829의 가까운 유전적 근연치를 나타내어 주목된다. R.(O.) acutispina와 R.(D.) kwangtungensis는 한국 미기록종으로 동정되었다.

• 한국농림기상학회지
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• 제5권4호
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• pp.226-232
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• 2003

도심지 주요 대기 오염원 가운데 하나인 오존이 층층나무의 유전구조에 미치는 영향을 조사하기 위하여 오존 처리에 대해서 생장이 건강한 내성 그룹과 피해가 심한 감수성 그룹을 선발한 후 동위효소 분석에 의한 유전구조를 비교하였다. 두 그룹간 유전구조의 차이는 5개 다형적 유전자좌에서 관측된 대립유전자 빈도 및 유전자정 빈도의 비교에 의해서 이루어졌다. 분석 결과 3개 유전자좌(Lap-2, Mdh-1, Skdh-1)에서 두 그룹간에 통계적으로 유의한 차이가 관측되었다. 내성그룹의 경우 유전적 다수도, 유전적 다양도, 이형접합도 등 유전적 다양성을 추정하기 위한 모든 통계치에서 감수성 그룹에 비해 높은 값을 나타냈다. 본 연구 결과는 유전적으로 다양한 개체 또는 집단이 그렇지 않은 개체나 집단에 비해서 환경 스트레스에 대해 저항성이 크다는 일반적인 가설에 잘 부합하는 것으로 나타났다.

• Asian-Australasian Journal of Animal Sciences
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• 제19권5호
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• pp.627-631
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• 2006

The objective of this study was to evaluate the association of genetic differences in the bovine leptin gene and milk yield, reproduction, body condition score (BCS), and plasma glucose level in Iranian Holstein cows. In total, two hundred and thirty eight cows were used and genotyped for a restricted fragment length polymorphism at the leptin gene locus. Two genotypes, AA and AB, have been distinguished which have the frequencies of 0.89 and 0.11, respectively. The genotypes were distributed according to the Hardy - Weinberg equilibrium ($x^2$ = 0.733). During the first 12 wk of lactation, milk yield and composition, live weight, BCS and plasma glucose were measured in 50 cows. Data were analyzed based on a repeated measures ANOVA. During this period, milk yield and composition, live weight, BCS and plasma glucose level were similar among the genotypes. The first cumulative 60-d milk yield, 305-d milk yield, days to first breeding, days open and days from first breeding to conception using previous lactation records were also analyzed using Standard Least Square within mixed models. Fixed effects were year, season, parity and age at calving, and sire. For the reproductive traits the cumulative first 60-d milk yield was also added to the model. Animal was fitted as a random effect. A significant association was detected between the RFLP-AB genotype and 305-d milk yield (p<0.05). The first 60-d cumulative milk yield was similar for the two genotypes (p = 0.21) and tended to be higher in the heterozygous cows. The heterozygous genotypes at the above mentioned locus had a trend to better reproductive performance than the homozygous. The results demonstrate that the RFLP B-allele can yield a higher 305-d milk production with a trend to better reproductive performance.

• Asian-Australasian Journal of Animal Sciences
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• 제18권9호
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• pp.1237-1241
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• 2005

Mannose-P-dolichol utilization defect 1 (MPDU1) gene is required for utilization of the mannose donor MPD in synthesis of both lipid-linked oligosaccharides (LLOs) and glycosylphosphatidylinositols (GPI) which are important for functions such as protein folding and membrane anchoring. The full length cDNA of the porcine MPDU1 was determined by in silico cloning and rapid amplification of cDNA ends (RACE). The deduced amino acid showed 91% identity to the corresponding human sequence with five predicted transmembrane regions. RT-PCR was performed to detect its expression pattern in five tissues and results showed that it is expressed ubiquitously among the tissues checked. A single nucleotide substitution resulting in the amino acid change (137 Tyr-137 His) was detected within exon 5. Allele frequencies in six pig breeds showed distinctive differences between those Chinese indigenous pigs breeds and European pigs. Using the pig/rodent somatic cell hybrid panel (SCHP), we mapped the porcine MPDU1 gene to SSC12, which is consistent with the comparative mapping result as conservative syntenic groups presented between human chromosome 17 and pig chromosome 12.

• Asian-Australasian Journal of Animal Sciences
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• 제21권2호
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• pp.155-160
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• 2008

Several studies have reported quantitative trait loci (QTL) for meat quality on porcine chromosome 2 (http://www.animalgenome.org/QTLdb/pig.html). For application of the molecular genetic information to the pig industry through marker-assisted selection, single nucleotide polymorphism (SNP) markers were analyzed by comparative re-sequencing of polymerase chain reaction (PCR) products of 13 candidate genes with DNA from commercial pig breeds such as Berkshire, Yorkshire, Landrace, Duroc and Korean Native pig. A total of 34 SNPs were identified in 15 PCR products producing an average of one SNP in every 253 bp. PCR restriction fragment length polymorphism (RFLP) assays were developed for 11 SNPs and used to investigate allele frequencies in five commercial pig breeds in Korea. Eight of the SNPs appear to be fixed in at least one of the five pig breeds, which indicates that different selection among pig breeds might be applied to these SNPs. Polymorphisms detected in the PTH, CSF2 and FOLR genes were chosen to genotype a Berkshire-Yorkshire pig breed reference family for linkage and association analyses. Using linkage analysis, PTH and CSF2 loci were mapped to pig chromosome 2, while FOLR was mapped to pig chromosome 9. Association analyses between SNPs in the PTH, CSF2 and FOLR suggested that the CSF2 MboII polymorphism was significantly associated with several pork quality traits in the Berkshire and Yorkshire crossed F2 pigs. Our current findings provide useful SNP marker information to fine map QTL regions on pig chromosome 2 and to clarify the relevance of SNP and quantitative traits in commercial pig populations.

• Asian-Australasian Journal of Animal Sciences
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• 제20권5호
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• pp.615-621
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• 2007

AMP-activated protein kinase alpha 2 (PRKAA2) plays a key role in regulation of fatty acid and cholesterol metabolism. This study investigated the porcine PRKAA2 gene as a positional candidate for intramuscular fat and backfat thickness traits in pig chromosome 6. A partial fragment of the porcine PRKAA2 gene, amplified by PCR, contained a putative intron 3 including a part of exon 3 and 4, comparable with that of human PRKAA2 gene. Within the fragment, several single nucleotide polymorphisms were identified using multiple sequence alignments. Of these, TaqI restriction enzyme polymorphism was used for genotyping various pig breeds including Korean reference family. Using linkage and physical mapping, the porcine PRKAA2 gene was mapped in the region between microsatellite markers SW1881 and SW1680 on chromosome 6. Allele frequencies were quite different among pig breeds. The full length cDNA of the porcine PRKAA2 (2,145 bp) obtained by RACE containing 1,656 bp open reading frame of deduced 552 amino acids, had sequence identities with PRKAA2 of human (98.2%), rat (97.8%), and mouse (97.5%). These results suggested that the porcine PRKAA2 is a positional candidate gene for fat deposition trait at near telomeric region of the long arm of SSC 6.

• Journal of Korean Neurosurgical Society
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• 제63권5호
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• pp.559-565
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• 2020

Objective : Conflicting results regarding SOX17 genes and the risk of intracranial aneurysms (IA) exist in the Korean population, although significant positive correlations were noted in genome-wide association studies in European and Japanese populations. Therefore, we aimed to investigate an association between SOX17 gene variants and IA using exome sequencing data. Methods : This study included 26 age-gender matched IA patients and 26 control subjects. The SOX17 gene variants identified from whole-exome sequencing data were examined. Genetic associations to estimate odds ratio (OR) and 95% confidence interval (CI) were performed using the software EPACTS. Results : The mean age of the IA and control groups were 51.0±9.3 years and 49.4±14.3 years, respectively (p=0.623). Seven variants of SOX17, including six single nucleotide polymorphisms and one insertion and deletion, were observed. Among these variants, rs12544958 (A>G) showed the most association with IA, but the association was not statistically significant (OR, 1.97; 95% CI, 0.81-4.74; p=0.125). Minor allele frequencies of the IA patients and controls were 0.788 and 0.653, respectively. None of the remaining variants were significantly associated with IA formation. Conclusion : No significant association between SOX17 gene variants and IA were noted in the Korean population. A large-scale exome sequencing study is necessary to investigate any Korean-specific genetic susceptibility to IA.

• Asian Pacific Journal of Cancer Prevention
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• 제17권8호
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• pp.3989-3995
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• 2016

Background: Childhood acute lymphoblastic leukemia (ALL) is a heterogeneous genetic disease and its etiology remains poorly understood. Recent genome wide association and replication studies have highlighted specific polymorphisms contributing to childhood ALL predispositions mostly in European populations. It is unclear if these observations generalize to other populations with a lower incidence of ALL. The current case-control study evaluated variants in ARID5B (rs7089424, rs10821936), IKZF1 (rs4132601) and CEBPE (rs2239633) genes, which appear most significantly associated with risk of developing childhood B-lineage ALL. Materials and Methods: Using TaqMan assays, genotyping was conducted for 162 de novo B-lineage ALL cases and 150 unrelated healthy controls in India. Appropriate statistical methods were applied. Results: Genotypic and allelic frequencies differed significantly between cases and controls at IKZF1-rs4132601 (p=0.039, p=0.015) and ARID5B-rs10821936 (p=0.028, p=0.026). Both rs10821936 (p=0.019; OR 0.67; 95% CI=0.47-0.94) and rs4132601 (p=0.018; OR 0.67; 95%CI 0.48-0.94) were associated with reduced disease risk. Moreover, gender-analysis revealed male-specific risk associations for rs10821936 (p=0.041 CT+CC) and rs4132601 (p=0.005 G allele). Further, ARID5B-rs7089424 and CEBPE-rs2239633 showed a trend towards decreased disease risk but without significance (p=0.073; p=0.73). Conclusions: Our findings provide the first evidence that SNPs ARID5B-rs10821936 and IKZF1-rs4132601 are associated with decreased B-lineage ALL susceptibility in Indian children. Understanding the effects of these variants in different ethnic groups is crucial as they may confer different risk of ALL within different populations.