• 한국지능시스템학회:학술대회논문집
• /
• 한국퍼지및지능시스템학회 2004년도 춘계학술대회 학술발표 논문집 제14권 제1호
• /
• pp.273-276
• /
• 2004

Genome-scale expression data provides us with valuable insights about organisms, but the biological validation of in-silico analysis is difficult and often controversial. Here we present a new approach for integrating previously established knowledge with computational analysis. Based on the known biological evidences, IGAM (Integrated Gene Association Matrix) automatically estimates the relatedness between a pair of genes. We combined this association knowledge to the regulatory network modeling and fuzzy clustering in yeast 5. Cerevisiae. The result was found to be more effective for extracting biological meanings from in-silico inferences for gene expression data.

• Asian-Australasian Journal of Animal Sciences
• /
• 제21권3호
• /
• pp.309-313
• /
• 2008

The insulin-like growth factor binding protein 3 (IGFBP3) has been investigated as a candidate gene for growth promoting effects in beef cattle and a modulator of IGF bioactivity. Previously, we have reported twenty two sequence variants discovered in Korean native cattle (Hanwoo). In this study, we examined the association between gene-specific polymorphisms of IGFBP3 and cold carcass weight (CW) and marbling score (MS) among Korean native cattle. Among twenty two polymorphisms, four common polymorphic sites (-854G>C, -100G>A, +421G>T and +3863C>A) were genotyped in our beef cattle (n = 437). Statistical analysis revealed that one common polymorphism in the promoter region (-854G>C) showed putative associations with MS (p = 0.03). IGFBP3 variation/haplotype information analyzed in this study will provide valuable information into strategies for the production of a commercial line of beef cattle.

• Asian-Australasian Journal of Animal Sciences
• /
• 제19권12호
• /
• pp.1691-1695
• /
• 2006

The identification method that inflects real time ultrasound (RUT) and the potential application of marker assisted selection (MAS) for improvement of a cow population of Hanwoo (Korean Native cattle) was studied. The averages of RUT longissimus muscle area, RUT fat thickness, and RUT marbling score scanned at the 13th rib were 55.78 $cm^2$, 3.70 mm and 3.83 scores, respectively. We investigated the effects of the two SNPs (Kpn2 I and Msp I) in the leptin gene on carcass traits for Hanwoo cows by using ultrasound measurements. Genotype CC of the Kpn2 I had a significantly higher effect on back fat thickness (4.23 mm) and longissimus muscle area (57.57 $cm^2$) than genotype TT (3.14 mm, 53.93 $cm^2$, respectively, p<0.05). Genotype AA of the Msp I had a significantly higher effect only on marbling score (5.37) than genotype AB (3.57, p<0.05) and BB (3.37, p<0.05). Significant effects of SNPs in the leptin gene were found for the ultrasound measures of body composition in live cattle.

• 생명과학회지
• /
• 제20권12호
• /
• pp.1758-1763
• /
• 2010

골다공증은 복합적 전신 골격 질환으로, 공중 보건 분야의 전세계적인 주요한 관심 질환의 한 가지이다. 골다공증은 유전적 영향을 받는 질환으로, 낮은 골밀도와 적은 외력 의한 골다공성 골절 등의 특징을 보이며, 강한 유전성을 나타내는 질환이다. 그러나, 낮은 골밀도과 연관된 특정한 유전자의 다형성은 아직까지 많이 알려져 있지 않다. 본 연구에서는 SQSTM1 유전자의 유전적 다형성과 낮은 골밀도 사이의 상관성을 확인하기 위해, 한국인 유전체 연구(Korean Association Resource, KARE)에서 골밀도를 측정한 7,225명(남성: 3,622명, 여성: 3,603명)을 대상으로 SQSTM1 유전자 다형성과 골밀도 간의 선형 회기 분석을 하였다. BD-RT (원위 요골의 T 점수로 예측한 골밀도)에서 SQSTM1 유전자에서 3개의 SNP (rs513235, rs3734007, rs11249661)가 유의한 상관성이 있는 것으로 나타났으며, BD-TT (중위 경골의 T 점수로 예측한 골밀도)에서는 4개의 SNP (rs513235, rs3734007, rs2241349, rs11249661)가 유의한 상관성이 있는 것으로 나타났다. 특히 3개의 SNP (rs513235, rs3734007, rs11249661)는 BD-RT와 BD-TT 두 종류의 골밀도에서 공통적으로 유의한 상관성을 보였다. 이러한 결과로 미루어 골밀도와 SQSTM1 유전자의 다형성 간에 통계적으로 유의한 상관성을 가지며, SQSTM1 유전자는 골다공증의 발병과정에 관련이 있을 것으로 사료된다.

• Asian-Australasian Journal of Animal Sciences
• /
• 제20권2호
• /
• pp.166-171
• /
• 2007

The objective of this study was to assess the association of polymorphisms in ${\kappa}$-cn, ${\beta}$-lg, ${\beta}$-lg 5′ flanking region, CSN1S2, and IGFBP-3 genes with milk production traits and mastitis-related traits in Chinese Holstein. Traits analyzed were 305 day standard milk yield, protein percentage, fat percentage, the ratio of fat percentage and protein percentage, pre-somatic cell count, somatic cell count, and somatic cell score, respectively. CSN1S2 locus was uninformative because only one genotype BB was found in Chinese Holstein. Allele frequencies of A and B in IGFBP-3 gene were 0.5738 and 0.4262 in Chinese Holstein population, which was different from reported Qinchuan cattle population. The genotypes of animals at IGFBP-3 locus significantly affected 305 day standard milk yield, protein percentage, and somatic cell score. The ${\beta}$-lg genotypes had a significant effect on protein percentage and the ratio of fat percentage and protein percentage. Polymorphism in ${\beta}$-lg 5′ flanking region was associated with 305 day standard milk yield, protein percentage, fat percentage, pre-somatic cell count, and somatic cell count. No significant associations of the polymorphism in ${\kappa}$-cn gene were observed for any trait.

• Asian-Australasian Journal of Animal Sciences
• /
• 제26권8호
• /
• pp.1065-1071
• /
• 2013

The swine leukocyte antigen class II molecules are possibly associated with the induction of protective immunity. The study described here was to investigate the relationship between polymorphisms in exon 2 of the swine DQA gene and piglet diarrhea. This study was carried out on 425 suckling piglets from three purebred pig strains (Large White, Landrace and Duroc). The genetic diversity of exon 2 in swine DQA was detected by PCR-SSCP and sequencing analysis, eight unique SSCP patterns (AB, BB, BC, CC, CD, BD, BE and DD) representing five specific allele (A to E) sequences were detected. Sequence analysis revealed 21 nucleotide variable sites and resulting in 12 amino acid substitutions in the populations. A moderate level polymorphism and significant deviations from Hardy-Weinberg equilibrium of the genotypes distribution were observed in the populations (p<0.01). The association analysis indicated that there was a statistically significant difference in the score of piglet diarrhea between different genotypes, individuals with genotype CC showed a lower diarrhea score than genotypes AB ($0.98{\pm}0.09$), BB ($0.85{\pm}0.77$) and BC ($1.25{\pm}0.23$) (p<0.05), and significantly low than genotype BE ($1.19{\pm}0.19$) (p<0.01), CC genotype may be a most resistance genotype for piglet diarrhea.

• Journal of Animal Science and Technology
• /
• 제46권3호
• /
• pp.295-300
• /
• 2004

본 연구는 도체성적을 보유하고 있는 제 31차, 32차 한우 후보종모우 집단 228두를 선발하여 DNA를 분리 정제 후 exon 2에 위치한 bovine leptin gene 염기서열 가운데 특정 염기서열을 갖는 2좌위의 primer를 합성하여 PCR 수행 후 PCR-product를 이용하여 2 종류의 제한효소 Kpn 2 I, Msp I 으로 반응시킨 후 두 가지 형태의 대립 유전자를 검정하여 경제형질과의 관련성을 분석하였다. PCR-RFLP를 통하여 얻어진 leptin gene의 유전자형 빈도는 Kpn2 I의 경우 C 유전자 빈도(0.25)보다 T 유전자 빈도(0.75)가 높게 나타났으며 Msp I으로 처리한 경우 M 유전자 빈도(0.35)보다 m 유전자 빈도(0.65)가 높게 나타났다. 통계적 분석을 통하여 각 유전자형에 대한 경제형질과의 관련성을 분석한 결과 제한효소 Kpn2 I으로 처리한 경우 도체율에서 CT 유전자형과 CC 유전자형 사이에 유의적 차이가 나타났으며(P < 0.05), Msp I의 경우 도체중 Mm 유전자형과 mm 유전자형 사이에 통계적 유의성이 나타났다(P < 0.05).

• Asian-Australasian Journal of Animal Sciences
• /
• 제20권6호
• /
• pp.817-820
• /
• 2007

The effects of diacylglycerol O-acyltransferase (DGAT1) candidate gene polymorphism on the economic traits of Hanwoo were studied. Through sequencing analysis, two polymorphism sites at K232A and T11993C were established and were analyzed by PCR-RFLP. The PCR-RFLP analysis for K232A showed that the frequencies of alleles K and A were 0.75 and 0.25, respectively, and the frequencies of genotypes for K/K, K/A and A/A were estimated as 0.509, 0.491 and 0, respectively. In the PCR-RFLP analysis for T11993C, we found allele frequencies of 0.773 and 0.227 for T and A, respectively, and 0.546, 0.454 and 0 for the T/T, T/C and C/C genotype frequencies, respectively. No significant effects on economic traits in Hanwoo were found in the separate analysis of K232A and T11993C polymorphisms, but the interaction between K232A and T11993C showed a significant effect (p<0.005) on marbling score. The DGAT1 candidate gene was found to have a significant effect not only on milk yield and component traits but also on the metabolism of intramuscular fat.

• 수면정신생리
• /
• 제13권1호
• /
• pp.22-26
• /
• 2006

Circadian rhythms have been observed to be disturbed in mood disorders, especially seasonal affective disorder (SAD). Clock related gene variants also have been suggested to be associated with seasonality (seasonal variations in mood and behavior). This study tested the potential association between a length polymorphism of Period3 gene and seasonal variations in mood and behavior. 297 Korean college students were genotyped for the Period3 polymorphism and were for evaluated the seasonal variation by Seasonal Pattern Assessment Questionnaire (SPAQ). The genotype frequencies were 0.76 for 4R/4R, 0.22 for 4R/5R and 0.013 for 5R/5R. The global seasonality score was not different among Period3 gene variants (4R/4R, 4R/5R and 5R/5R) except for 'sleep length' subscore. The 5R/5R genotype showed the higher 'sleep length' subscore than others (p=0.024). The comparison between seasonals (syndromal plus subsyndromal SAD determined by SPAQ) and non-seasonals did not show any significant difference in frequencies of genotypes. These findings suggest that there is a possibility that the investigated Period3 polymorphism may play a partial role in the susceptibility of seasonal variations in a Korean population.

• 대한영상의학회지
• /
• 제81권3호
• /
• pp.632-643
• /
• 2020

목적 자기공명영상 근거 영상표현형과 생체분자학적 아형, 유전자 발현 프로파일 근거 위험도 등 유방암 유전체 특징의 관계를 분석하고자 하였다. 대상과 방법 The Cancer Genome Atlas와 and the Cancer Imaging Archive에 공개된 자료를 이용하였다. 122개의 유방암의 자기공명영상에서 영상표현형이 추출되었다. 유전자 발현 프로파일에 따라 PAM50아형을 분류하고 위험도를 지정하였다. 영상표현형과 생체분자학적 특징의 관계를 분석하였다. 예측모델을 알아보기 위해 penalized generalized regression analysis를 이용하였다. 결과 PAM50아형은 maximum 2D diameter (p = 0.0189), degree of correlation (p = 0.0386), 그리고 inverse difference moment normalized (p = 0.0337)와 유의하게 관련이 있었다. 위험도 시스템 중에 GGI와 GENE70이 통계적으로 유의하게 8개의 영상표현형 특징을 서로 공유하였다(p = 0.0008~0.0492). Maximum 2D diameter가 두 위험도 시스템에서 가장 유의하게 관련있는 특징이었으나(p = 0.0139, p = 0.0008) 예측모델의 전반적인 연관 정도는 약했고 가장 높은 연관계수는 GENE70이 0.2171이었다. 결론 영상표현형 중에 maximum 2D diameter, degree of correlation, 그리고 inverse difference moment normalized가 PAM50 아형 그리고 GENE70과 같은 유전자 발현 프로파일 근거 위험도와 그 연관도는 약하였으나 유의한 관련을 보였다.