• Pediatric Infection and Vaccine
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• 제22권2호
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• pp.81-90
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• 2015

목적: 한국에 백신이 도입된 이후 장염으로 입원한 소아에서 확인된 로타바이러스 유전형의 분포를 알아보고자 하였다. 방법: 2009년 8월부터 2013년 6월 사이에 급성 위장관염으로 입원한 소아에게서 수집된 201개의 로타바이러스 양성 대변 검체를 대상으로 로타바이러스 유전형 분석이 시행되었다. 결과: G 유전형은 G9 (33.3%), G1 (22.4%), G3 (15.9%), G2 (6.0%), G4 (3.0%), G10 (1.5%)이었고 혼합형(15.4%) 및 분류불능(2.5%)이 관찰되었다. P 유전형은 P[4] (45.3%)과 P[8] (43.8%)가 주로 검출되었고 혼합형(10.4%)과 P[2] (0.5%)가 발견되었다. G9P[4] 유전형이 2010/2011년에 자주 검출되었으나 이후에 G1P[8] 유전형이 주로 검출되었다. 결론: 로타바이러스 백신 도입 이후 2009-2013년 동안 G1, G3 및 G9이 번갈아가며 주로 검출되는 것을 확인하였다.

• Pediatric Infection and Vaccine
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• 제11권1호
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• pp.59-72
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• 2004

목 적 : 로타바이러스는 영유아에서 설사를 일으키는 주요 원인 바이러스로서 세계적으로 유행하며 국내에서도 해마라 유행하고 있다. 국내에서 유행하는 로타바이러스의 유전자형을 규명하고 이를 기초 역학자료 및 백신 개발에 유용한 자료로 사용함과 동시에 로타바이러스 감염 환자들의 연령, 계절적인 분포 및 임상양상을 조사하여, 최근의 국내 로타바이러스 감염의 역학변화를 알아보는 것이 본 연구의 목적이다. 방 법 : 2000년 9월부터 2001년 4월까지 마산파티마병원 소아과에 내원하거나 입원하는 환자들 중 대변 검체에서 Latex agglutination검사(Slidex Rota-Kit2, Bio Merieux, France)로 로타바이러스 양성 판정을 받은 환자들의 검체를 이용하였다. 환자의 검체에서 RNA를 추출한 후 추출된 RNA를 주형으로 하여 cDNA를 합성한 뒤 VP4, VP7에 대한 PCR을 실시하여 유전자형을 결정하였다. 결 과 : 1) 총 대상 환자들은 120명이었고 남자가 79명(65.8%), 여자가 41명(34.2%)이었다. 연령별로는 생후 2일에서부터 12세까지 분포하였고 2세이하 환자가 97%인 l16명으로 대부분을 차지하였다. 계절적인 양상은 9월, 10월 사이에는 산발적인 발생을 보이다가 12월부터 급격히 증가하여 익년 4월까지 환자의 발생을 보이는 분포를 보였다. 2) 전체 대변 검체 120개중에서 C형은 97개(80.8%)에서 결정이 되었고 P형은 102개(85%)에서 결정되어 120개 검체 중 l16개(97%)가 적어도 하나이상의 유전자형이 결정되었다. 3) p형은 P[4]가 77례(64.2%)로 가장 많았으며 P[6]가 22례(18.3%), P[8]가 1례(0.8%)이었다. 혼합감염은 P[4]/P[6]가 12례(10%), P[4]/P[8](0.8%) 1례로 나타났고 유전자형이 결정되지 않은 것이 7례(5.9%)이었다. 4) G형은 G2가 74례(61.7%)로 가장 많았고 G1이 17례(14.2%), G4, G1이 각각 1례였다. 혼합감염은 G1/G2, G1/G4, G1/G9, G8/G9이 각각 1례로 나타났고 유전자형이 결정되지 않은 것이 23례(19.2%)이었다. 5) 조합형에 대한 분석을 하면 P[4]G2가 62례(51.7%)로 가장 많았고 P[6]가 7례(5.8%), P[6]G2가 7례(5.8%), P[4]/P[6]G1가 4례(3%), P[4]/P[6]G2가 4례(3%), P[4]가 3례(2.5%), P[8]G2가 1례(0.8%), P[4]G4가 1례(0.8%)로 나타났다. 결 론 : 2000년에서 2001년 사이 경상남도 지방에서 다양한 로타바이러스의 유전자형의 유행이 있었고 조합형에 대한분석을 해보면 P[4]G2가 62례(51.7%)로 가장 많았고 P[6]G1가 7례(5.8%), P[6]G2가 7례(5.8%), P[4]/p[6]G1가 4례(3%), P[4]/P[6]G2가 4례(3%), P[4]G1가 3례(2.5%), P[8]G2가 1례(0.8%), P[4]G4가 1례(0.8%)로 나타났다. 이번 연구의 결과에서 국내에서 다양한 로타바이러스의 유전자형의 유행이 확인되었고, 역학이 변화하고 있음을 알 수 있었으며 유전자형의 결과는 향후 로타바이러스 백신의 개발과 도입에 있어 기초 자료로 사용되어질 수 있을 것이다. 로타바이러스는 특성상 변이가 잘 일어나 새로운 유전자형이 쉽게 나타날 수 있고 백신은 유전자형에 특이하게 작용하므로 추후 지속적인 로타바이러스의 유전자형에 대한 연구가 이루어져야 할 것으로 사료된다.

• 한국축산식품학회지
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• 제31권4호
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• pp.537-542
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• 2011

Biological or physiological genes that regulate metabolism and energy partitioning have the potential to influence economically important traits such as carcass and meat quality traits in beef cattle. The neuropeptide Y (NPY) functions as a central appetite stimulator and plays a major role in feed intake and energy-balance control. Therefore, the NPY gene is an excellent biological and physiological candidate gene for body weight, feeding, fatness or growth related traits in beef cattle. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the NPY gene and to evaluate the association of NPY SNP markers with carcass and meat quality traits in Korean cattle. The genomic region (711 bp) including intron 2 of NPY gene was amplified and sequenced, and five SNPs, g.4389 Del(C), g.4371Del(C), g.4271T>C, g.1899A>G and g.1517A>C, were identified. The PCR-RFLP method was then developed to genotype the individuals examined. The g.4271T>C SNP was significantly associated with M. Longissimus dori area (LDA) value (p<0.027). Animals with the TT ($78.144{\pm}0.950\;cm^2$) genotype had higher LDA than those with the CC ($72.266{\pm}2.039\;cm^2$), and animals with TC genotype showed intermediate value. This SNP genotype also showed a highly significant additive genetic effect for the LDA (p<0.01). No significant associations, however, was detected between any of the SNP genotype and other carcass traits measured in this study. In conclusion, SNP genotype of the NPY gene may be used as DNA markers to select animals that have a higher meat yield.

• Asian Pacific Journal of Cancer Prevention
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• 제15권17호
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• pp.7377-7381
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• 2014

CYP2E1 PstI polymorphism G-1259C (rs3813867) genotype distributions vary significantly among different populations and are associated with both diseases, like cancer, and adverse drug effects. To date, there have been limited genotype distributions and allele frequencies of this polymorphism reported in the three major indigenous ethnic groups (KadazanDusun, Bajau, and Rungus) in Sabah, also known as North Borneo. The aim of this study was to investigate the genotype distributions and allele frequencies of the CYP2E1 PstI polymorphism G-1259C in these three major indigenous peoples in Sabah. A total of 640 healthy individuals from the three dominant indigenous groups were recruited for this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) at G-1259C polymorphic site of CYP2E1 gene was performed using the Pst I restriction enzyme. Fragments were analyzed using agarose gel electrophoresis and confirmed by direct sequencing. Overall, the allele frequencies were 90.3% for c1 allele and 9.7% for c2 allele. The genotype frequencies for c1/c1, c1/c2 and c2/c2 were observed as 80.9%, 18.8%, and 0.3%, respectively. A highly statistical significant difference (p<0.001) was observed in the genotype distributions between indigenous groups in Sabah with all Asian and non-Asian populations. However, among these three indigenous groups, there was no statistical significant difference (p>0.001) in their genotype distributions. The three major indigenous ethnic groups in Sabah show unique genotype distributions when compared with other populations. This finding indicates the importance of establishing the genotype distributions of CYP2E1 PstI polymorphism in the indigenous populations.

• BMB Reports
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• 제43권7호
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• pp.499-505
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• 2010

The present study aimed to investigate whether the polymorphisms in the TSLPR gene are associated with atopic and asthmatic disease in the Korean population. We identified eleven single nucleotide polymorphisms (SNPs) and two variation sites in the TSLPR gene, including the promoter region. The genotype and allele frequencies of g.33G>C of the TSLPR gene in asthma patients were significantly different from the respective frequencies of the control group (P = 0.006 and 0.003, respectively). Our additional analysis showed that the genotype and allele frequencies of the g.33G>C and g.19646A>G of the TSLPR gene were significantly associated in the atopic asthma patients rather than in the non-atopic asthma patients (genotype frequencies; P = 0.0001 and 0.0003 respectively, allele frequencies; P = 0.0005 and 0.0001 in that order). Our results suggest that the SNPs of the TSLPR gene could be associated with the susceptibility to atopic asthma in the Korean population.

• Journal of Animal Science and Technology
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• 제49권5호
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• pp.569-576
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• 2007

임의적으로 선정된 비육돈 집단에서 melano- cortin-4 receptor(MC4R) 유전자의 유전적 변이와 도체형질의 연관성을 조사하였다. 돼지 MC4R 유전자형은 Asp298Asn(nt. 892G>A) 돌연변이를 PCR-RFLP 방법으로 결정하였다. 비육돈 집단에서 유전자형 A/A, A/G, G/G가 모두 출현하였고, 빈도는 각각 28.8, 48.4, 22.8%를 나타내었다. 전체 비육돈에서 유전자형 A/-은 G/G에 비해 근내지방도가 유의적으로 높게 나타났다(P<0.05). 동형접합자 A/A와 G/G가 이형접합자 A/G인 도체에 비해 육색도는 더 낮고 수분삼출도는 높은 것으로 확인되었다(P<0.01). 반면, -/G인 거세돈의 도체중이 A/A에 비해 도체중이 유의적으로 무겁게(약 2.5kg) 나타났다(P<0.05). 각 유전자형의 도체형질에 대한 효과는 미경산돈에서는 전체 비육돈 집단에 대한 효과와 유사하나, 거세돈 집단과는 다소 차이가 있었고, 이는 도체형질에 대한 현재까지 알려지지 않은 성-관련 효과로 추정된다. 본 연구에서 비육돈 생산에 있어 MC4R A/- 유전자형이 육질을 향상시킬 수 있을 것으로 기대된다. 하지만, MC4R 유전자형들이 성과 관련되어 차별적으로 도체형질에 영향을 주고 있기 때문에, 비육돈 생산을 위한 marker-assisted selection을 위해서는 성과 유전자형 모두가 고려되어져야 할 것이다.

• Asian-Australasian Journal of Animal Sciences
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• 제27권5호
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• pp.609-615
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• 2014

Appetite-related neuropeptides proopiomelanocortin (POMC) and Neuropeptide Y (NPY) are essential for regulating feeding behavior and energy homeostasis. The objective of this study was to evaluate the effects of variants in POMC and NPY genes on growth, carcass and meat quality traits in rabbits. A total of six SNPs were identified for POMC (n = 2) and NPY (n = 4) genes by direct sequencing. Three SNPs were subsequently genotyped by using MassArray system (Sequenom iPLEXassay) in 235 individuals, which belong to three meat rabbit breeds, including 93 Ira rabbits; 81 Champagne rabbits and 61 Tianfu black rabbits. The SNP c.112-12G>T was in intron-exon boundaries (intron 1) of POMC gene, and the association analysis showed that individuals with TT genotype had a greater 84 d body weight (BW84), eviscerated weight and semi-eviscerated weight than those with GT genotype (p<0.05); the TT individuals were also higher than those GG in the ripe meat ratio (RMR) (p<0.05). The g.1778G>C SNP, which was in complete linkage with other three SNPs (g.1491G>A, g.1525G>T and g.1530C>T) in intron 1 of NPY gene, was significantly correlated with eviscerated slaughter percentage and semi-eviscerated slaughter percentage in rabbits, and the individuals with CC genotype had a better performance than CG genotype (p<0.05). These findings would provide primary clues for the biological roles of POMC and NPY underlying the rabbit growth-related traits.

• Asian-Australasian Journal of Animal Sciences
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• 제20권7호
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• pp.1023-1029
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• 2007

Inhibins participate in the regulation of pituitary follicle-stimulating hormone synthesis and secretion, follicular maturation and steroidogenesis in the female. Inhibin ${\beta}_A$ gene (INHBA) was studied as a candidate gene for the prolificacy of sheep. Single nucleotide polymorphisms of the entire coding region and partial 3' untranslated region of INHBA were detected by PCR-SSCP in two high fecundity breeds (Small Tail Han and Hu sheep) and six low fecundity breeds (Dorset, Texel, German Mutton Merino, South African Mutton Merino, Chinese Merino and Corriedale sheep). Only the PCR products amplified by primers 3, 4 and 5 displayed polymorphisms. For primer 3, genotype CC was only detected in Chinese Merino sheep, genotype AA was detected in the other seven sheep breeds. Genotype BB was only detected in Hu sheep. Only Hu sheep displayed polymorphism. Eight or four nucleotide mutations were revealed between BB or CC and AA, respectively, and these mutations did not result in any amino acid change. For primer 4, genotypes EE, EG and GG were detected in Dorset and German Mutton Merino sheep, genotypes EE, EF and FF were detected in Chinese Merino sheep, only genotype EE was detected in the other five sheep breeds. Only Dorset, German Mutton Merino and Chinese Merino sheep displayed polymorphism. Sequencing revealed one nucleotide mutation ($114G{\rightarrow}A$) of exon 2 of INHBA gene between genotype FF and genotype EE, and this mutation did not cause any amino acid change. Another nucleotide change ($143C{\rightarrow}T$) was identified between genotype GG and genotype EE, and this mutation resulted in an amino acid change of $serine{\rightarrow}leucine$. For primer 5, genotypes KK and KL were detected in German Mutton Merino and Corriedale sheep, genotypes KK, LL and KL were detected in the other six sheep breeds. Genotype MM was only detected in Hu sheep. All of these eight sheep breeds displayed polymorphism. Sequencing revealed one nucleotide mutation ($218A{\rightarrow}G$) of exon 2 of the INHBA gene between genotype LL and genotype KK, and nine nucleotide mutations between genotype MM and genotype KK. These mutations did not alter amino acid sequence. The partial sequence (395 bp for exon 1 and 933 bp for exon 2) of the INHBA gene in Small Tail Han sheep (with genotype KK for primer 5) was submitted into GenBank (accession number EF192431). Small Tail Han sheep displayed polymorphisms only in the fragment amplified by primer 5. The Small Tail Han ewes with genotype LL had 0.53 (p<0.05) or 0.63 (p<0.05) more lambs than those with genotype KL or KK, respectively. The Small Tail Han ewes with genotype KL had 0.10 (p>0.05) more lambs than those with genotype KK.

• Clinical and Experimental Pediatrics
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• 제49권5호
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• pp.513-518
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• 2006

목 적 : 본 연구에서는 로타바이러스 위장관염 환아에서 신경학적 이상이 동반된 경우와 그렇지 않은 경우를 비교하여 로타 바이러스 유전형의 분포와 빈도를 조사하고자 하였다. 방 법 : 로타바이러스 위장관염 환아에서 로타바이러스 유전형을 밝힌 82례 중 71례는 신경학적 이상이 동반되지 않았으며 11례에서 신경학적 이상이 동반되었다. 4군의 G형과 4군의 P형이 reverse transcription, multiplex polymerase chain reaction을 통해 분석되었다. 결 과 : 신경학적 이상이 동반되지 않은 군에서는 G4, G3, G2, G1형이 각각 24(35.3%), 23(33.8%), 17(25.0%), 4(5.6%)로, P6, P4, P8, P9형이 각각 26(36.1%), 23(31.9%), 22(30.6%), 1(1.4%)로 보고되었다. 또한 조합형으로 G2P4, G4P6이 가장 흔하게 관찰되었다. 신경학적 이상이 동반된 군에서는 G2, G3, G4형이 각각 9(75.0%), 2(16.7%), 1(8.3%)로, P4, P6, P8, P9형이 각각 8(66.7%), 2(16.7%), 1(8.3%), 1(8.3%)로 보고되었다. 또한 조합형으로 G2P4가 가장 흔하게 관찰되었다. 신경학적 이상이 있는 군에서 G2, P4, G2P4의 빈도는 신경학적 이상이 없는 군에 비해 그 빈도가 의미있게 높았다. 결 론 : 로타바이러스 위장관염 환아에서 신경학적 이상이 동반된 경우, 신경학적 이상이 동반되지 않은 경우에 비교하여 G1형이 관찰되지 않았으며, G2, P4, G2P4형이 더 흔하게 관찰되었다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권18호
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• pp.7639-7644
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• 2014

Background: Results from previous studies concerning the association of ERCC4 rs1800067 polymorphism with risk of cancer were inconsistent. To explore the exact relation with susceptibility, we conducted the present meta-analysis. Materials and Methods: Literature of electronic databases including PubMed, Web of Science, EMBASE, Wanfang and Chinese National Knowledge Infrastructure (CNKI) were systematically searched. ORs and their 95%CIs were used to assess the strength of associations between ERCC4 polymorphism and cancer risk. Results: There was no significant association between ERCC4 rs1800067 AA or AG genotypes and overall risk of cancer (AA vs. GG: OR=0.998, 95%CI=0.670-1.486, P=0.992; AG vs. GG: OR=0.970, 95%CI=0.888-1.061, P=0.508). A dominant genetic model also did not demonstrate significant association of (AA+AG) genotype carriers with altered risk of overall cancer (OR=0.985, 95%CI=0.909-1.068, P=0.719). In addition, no significant association was observed between A allele of ERCC4 rs1800067 A/G polymorphism and altered cancer risk compared with G allele (OR=0.952, 95%CI=0.851-1.063, P=0.381). Subgroup analysis suggested that AA genotype carriers were significantly associated with decreased risk of glioma compared with wild-type GG genotype individuals (OR=0.523, 95%CI=0.275-0.993, P=0.048). For subgroup of lung cancer, A allele of ERCC4 rs1800067 A/G polymorphism was significantly associated with decreased risk of lung cancer compared with G allele (OR=0.806, 95%CI=0.697-0.931, P=0.003). Conclusions: This meta-analysis indicated that ERCC4 rs1800067 A/G polymorphism might not be associated with risk of overall cancer. However, individuals with the AA genotype were associated with significantly reduced risk of glioma compared with wild-type GG genotype; The A allele was associated with significantly reduced risk of lung cancer compared with G allele. Future large-scale studies performed in multiple populations are warranted to confirm our results.