• Tuberculosis and Respiratory Diseases
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• 제58권4호
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• pp.367-374
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• 2005

연구배경 : 장기간 흡연을 하는 사람의 10-20%에서만 COPD가 발생한다는 사실은 COPD의 발생에 유전적 인자가 관여함을 시사한다. 최근 surfactant protein A가, COPD의 병인에 중요한 역할을 하는 것으로 알려진 MMP-9의 분비를 TLR2를 통해 증가시킨다고. 그러므로 COPD의 병인에 TLR2이 역할을 할 수 있을 것이라는 가정 아래, TLR2 유전자의 intron II에 존재하는 Guanine-Thymine (GT)의 반복으로 이루어진 유전자다형성과 한국인에서의 COPD의 발생과의 연관성을 규명하고자 하였다. 방 법 : 흡연력이 있는 남자 COPD 환자와 정상 폐기능을 보이는 남자 흡연자를 대상으로 하여, TLR2 유전자의 intron II의 GT 반복횟수를 확인하였다. 그 GT 반복이 3상성의 분포를 보여 이들을 다시 세 개의 맞섬 유전자 아형으로 분류하여 분석하였다. (12-16회 GT 반복: 짧은 아형; 17-22회 반복: 중간 아형; 23-27회 반복: 긴 아형) 결 과 : 각각의 맞섬유전자 아형의 분포는 125명의 COPD군과 144명의 대조군 사이에 유의한 차이는 없었다(P=0.75). 또한 각각의 맞섬유전자 아형의 유무에 따른 유전형의 빈도도 두 군간의 차이는 관찰할 수 없었다. 결 론 : TLR2 유전자의 intron II에 존재하는 GT 반복으로 이루어진 유전자다형성은 한국인에서 COPD의 발생과 연관되어 있지 않다.

• 생명과학회지
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• 제15권6호
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• pp.972-978
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• 2005

제주말의 혈통보존을 위한 기초자료를 마련할 목적으로 국내에서 사육중인 제주말 102두를 대상으로 적혈구항원형 및 혈액단백질형의 유전적 다형성을 조사한 결과는 다음과 같다. 적혈구항원형의 표현형 빈도는 $A^{af}$28두($27.45\%),\;C^{a}$ 101두 ($99.02\%),\;K^{-}$ 99두 ($97.06\%),\;U^{a}$ 64두 ($62.75\%),\;P^{b}$ 37두 ($36.27\%),\;Q^{c}$ 48두 ($47.06\%$)에서 높은 빈도를 나타냈으며, D시스템의 31개의 대립유전자 중 $D^{cgm/dghm}$ 14두($13.73\%),\;D^{adn/cgm}$ 10두($9.80\%),\;D^{ad/cgm}$ 9두($8.82\%),\;D^{dghm/dghm}$ 8두($7.84\%),\;D^{cgm/cgm}$ 8두($7.84\%$)에서 높은 빈도의 유전자형이 관찰되었다. 또한 null allele로 추정되는 $D^{ad/c(e)fgm}\;D^{adn/c(e)fgm}\;D^{c(d)fgm/dghm}$대립유전자가 4두에서 관찰되었다. 혈액단백질형은 $AL^{B}$ 49두($48.04\%),\;GC^{F}$ 101두($99.02\%),\;AlB^{K}$ 99두($97.06\%),\;ES^{FI}$ 37두($36.27\%),\;TF^{F2}$ 26두($25.49\%),\;HB^{B1}$ 46두($45.10\%$), and $PGD^{F}$ 88두($86.27\%$)로 높은 빈도를 보였으며, $HB^{A2B1}$ 4두($3.92\%),\;HB^{AB1}$ 2두($1.96\%),\;HB^{AB2}$ 1두($0.98\%),\;PGD^{D}$ 1두($0.98\%$가 특이하게 관찰되었다. 유전자 빈도는 $A^{af}$ (0.3726), $A^{C}$ (0.2647), $C^{-}$ (0.5050), $K^{-}$ (0.9853), $U^{-}$ (0.6863), $P^{b}$ (0.4657), $Q^{c}$ (0.5294), $D^{cgm}$ (0.3039), $HB^{B1}$(0.6863), $PGD^{F}$ (0.9265), $AL^{B}$ (0.6912), $ALB^{K}$ (0.9852), $GC^{F}$ (0.9950), $ES^{I}$ (0.5000) and $TF^{F2}$ (0.4950) 대립유전자가 가장 높은 빈도를 나타내었고 $D^{cgm(f)}$ (0.0196), $HB^{A}$ (0.0147), $HB^{A2}$ (0.0196), $ES^{G}$ (0.0441), $ES^{H}$ (0.0098), $TF^{E}$TF'(0.0246), $TF^{H2}$ (0.0049) and $PGD^{D}$ (0.0098)의 대립유전자가 제주말 에서 특이하게 관찰되었다. 결론적으로 혈액형에 의한 제주말의 유전적 다형은 $A^{af},\;A^{c},\;C^{-},\;K^{-},\;U^{-},\;P^{b},\;Q^{c},\;D^{cgm},\;D^{dghm},\;D^{adn},\;HB^{B1}$, $PGD^{F},\;AL^{B},\;A1B^{K},\;GC^{F},\;ES^{I},\;TF^{F2},\;AL^{B}$, 대립유전자의 빈도가 비교적 높은 것으로 관찰되었고 $A^{ab},\;A^{abf},\;D^{cgm(f)},\;(D^{cfg(k)m}$ 혹은$D^{c(e)fgm}),\;HB^{A},\;HB^{A2},\;ES^{H},\;TF^{E},\;TF^{H2},\;PGD^{D},\;AL^{B}$의 대립유전자가 제주말에서 특이하게 관찰되었다.

• Asian-Australasian Journal of Animal Sciences
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• 제21권8호
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• pp.1097-1102
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• 2008

Paraoxonase-1 (PON1), like lipoprotein lipase (LPL), plays a key role in the metabolism and physiology of mammalian growth. The objectives of this study were to estimate the allele and genotype frequencies at the PON1/EcoRV and PON1/AluI loci in three genetic groups of beef cattle and to determine associations between these polymorphisms and growth and carcass traits. Genotyping was performed on 30 Angus, 32 Hereford and 26 Simmental. The association analysis was carried out using the GLM procedure of SAS 9.1 and the least squares means of the genotypes were compared by the Tukey's test. Animals with AG genotype at the PON1/EcoRV locus had higher weight at the time of entry into the fattening corrals ($329.97{\pm}6.08kg$) and close to the time of slaughter ($577.56{\pm}8.32kg$) and net meat weight ($275.89{\pm}4.05kg$) and fitted tenderness ($3.10{\pm}0.19kg$) (p<0.05). Animals with AA genotype at the PON1/AluI locus had higher weight at the time of entry ($333.37{\pm}8.93kg$) and slaughter ($576.82{\pm}13.18kg$) and net meat weight ($275.49{\pm}6.43kg$) and average daily gain ($0.68{\pm}0.02kg/d$) (p<0.05). The meat color score was also significantly higher (p<0.05). Between genotypes and breeds, there were significant differences observed except for TBW, REMG, MBS, REA and MCS. As a metabolism gene, genotypes of the SNPs of PON1 gene might be reflecting BFT directly, such as $A_eA_eG_aG_a$ genotype in this experiment.

• Asian-Australasian Journal of Animal Sciences
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• 제21권7호
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• pp.917-922
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• 2008

A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif (ADAMTS1) plays a critical role in follicular rupture and represents a major advance in the proteolytic events that control ovulation. In this study, a 9,026-bp DNA sequence containing the full coding region, all 8 introns and part of the 5'and 3' untranslated region of the porcine ADAMTS1 gene was obtained. Analysis of the ADAMTS1 gene using the porcine radiation hybrid panel indicated that pig ADAMTS1 is closely linkage with microsatellite marker S0215, located on SSC13q49. The open reading frame of its cDNA covered 2,844 bp and encoded 947 amino acids. The coding region of porcine ADAMTS1 as determined by sequence alignments shared 85% and 81% identity with human and mouse cDNAs, respectively. The deduced protein contained 947 amino acids showing 85% sequence similarity both to the human and mouse proteins, respectively. Comparative sequencing of three pig breeds revealed one single nucleotide polymorphism (SNP) within exon 7 of which a G-C substitution at position 6006 changes a codon for arginine into a codon for proline. The substitution was situated within a PvuII recognition site and developed as a PCR-RFLP marker for further use in population variation investigations and association analysis with litter size. Allele frequencies of this SNP were investigated in seven pig breeds/lines. An association analysis in a new Qingping female line suggested that different ADAMTS1 genotypes have significant differences in litter size (p<0.01).

• Asian-Australasian Journal of Animal Sciences
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• 제25권9호
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• pp.1205-1215
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• 2012

This study was conducted to establish genetic criteria for phenotypic characteristics of Hanwoo cattle based on allele frequencies and genetic variance analysis using microsatellite markers. Analysis of the genetic diversity among 399 Hanwoo cattle classified according to nose pigmentation and coat color was carried out using 22 microsatellite markers. The results revealed that the INRA035 locus was associated with the highest $F_{is}$ (0.536). Given that the $F_{is}$ value for the Hanwoo INRA035 population ranged from 0.533 (white) to 1.000 (white spotted), this finding was consistent with the loci being fixed in Hanwoo cattle. Expected heterozygosities of the Hanwoo groups classified by coat colors and degree of nose pigmentation ranged from $0.689{\pm}0.023$ (Holstein) to $0.743{\pm}0.021$ (nose pigmentation level of d). Normal Hanwoo and animals with a mixed white coat showed the closest relationship because the lowest $D_A$ value was observed between these groups. However, a pair-wise differentiation test of $F_{st}$ showed no significant difference among the Hanwoo groups classified by coat color and degree of nose pigmentation (p<0.01). Moreover, results of the neighbor-joining tree based on a $D_A$ genetic distance matrix within 399 Hanwoo individuals and principal component analyses confirmed that different groups of cattle with mixed coat color and nose pigmentation formed other specific groups representing Hanwoo genetic and phenotypic characteristics. The results of this study support a relaxation of policies regulating bull selection or animal registration in an effort to minimize financial loss, and could provide basic information that can be used for establishing criteria to classify Hanwoo phenotypes.

• Asian-Australasian Journal of Animal Sciences
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• 제23권11호
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• pp.1405-1411
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• 2010

Calpastatin (CAST), an endogenous inhibitor of the calpains, plays an important role in post-mortem tenderization of meat. The objectives of this study were to investigate single nucleotide polymorphisms (SNPs) in the bovine CAST gene and association with carcass and meat quality traits. A total of 212 cattle from commercial herds were tested in this study including 2 pure introduced breeds, 4 cross populations, and 3 pure Chinese native breeds. Five SNPs were identified at position 2959 (A/G), 2870 (G/A), 3088 (C/T), 3029 (G/A) and 2857 (C/T) in the CAST gene (GenBank Accession No. AF159246). Allele frequencies of SNP2959 and SNP2870 were 0.701 (A) and 0.462 (A), respectively. A general linear model was used to evaluate the associations between the two markers and 7 traits. The results showed that both SNP2959 and SNP2870 were significantly (p<0.01) associated with the Warner-Bratzler shear force (WBSF), while they had no significant association with the other 6 traits in the whole population. However, in Chinese native pure breeds, only SNP2870 had significant association with WBSF (p<0.05). The simultaneous analysis of two-marker genotype effects indicated animals containing the A/G haplotype (A for SNP2959 and G for SNP2870) tended to have lower shear force than those containing the G/A haplotype, and, especially, animals homozygous for the A/G haplotype had approximately 2 kg lower shear force than those homozygous for the G/A haplotype (p<0.01). These results suggested that both markers may be effective for the marker-assisted selection of meat quality traits in Chinese commercial herds, especially SNP2870 which can be used for Chinese native cattle.

• Clinical and Experimental Pediatrics
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• 제49권5호
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• pp.545-551
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• 2006

목 적 : Cytotoxic T lymphocyte-associated antigen-4(CTLA-4)를 표현하는 유전자는 IgE 조절과 T 세포의 활성에 중요한 역할을 하는 후보유전자로 알려져 있다. 본 연구에서는 CTLA-4 exon 1(＋49 position)과 promoter 유전자(-318 position)의 다형성과 한국 소아의 아토피피부염의 유전적 감수성 및 아토피피부염의 임상양상의 관계에 대해 알아보고자 하였다. 방 법 : 아토피성 습진 145명, 비아토피성 습진 69명과 대조군 96명을 대상으로 restriction fragment length polymorphism방법으로 CTLA-4 promoter(-318 T/C)와 exon 1(＋49 A/G)의 다형성을 조사하였다. 결 과 : CTLA-4 exon 1과 promoter의 유전자 다형성이 아토피성 습진 환아군이나 비아토피성 습진 환아군에서 대조군에 비해 의의있는 분포의 차이를 보이지 않았으며, 아토피피부염의 중증도, IgE 농도, 호산구의 수와도 유의한 관계가 없없다. 결 론 : 본 연구에서는 CTLA-4 유전자 다형성이 한국 소아의 아토피피부염의 유전적 감수성 및 아토피피부염의 임상양상에 관여하지 않는 것으로 생각된다.

• Asian-Australasian Journal of Animal Sciences
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• 제20권5호
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• pp.627-632
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• 2007

FoxO1, FoxO3a and FoxO4 belong to the FoxO gene family, which play important roles in the PI3K/PKB pathway. In this study, we cloned the porcine FoxO1, FoxO3a and FoxO4 sequences and assigned them to SSC11p11-15, SSC1p13 and SSC xq13 using somatic cell hybrid panel (SCHP) and radiation hybrid panel (IMpRH). RT-PCR results showed that these three genes are expressed in multiple tissues. Sequencing of PCR products from different breeds identified a synonymous T/C polymorphism in exon 2 of FoxO3a. This FoxO3a single nucleotide polymorphism (SNP) can be detected by AvaII restriction enzyme. The allele frequencies of this SNP were investigated in Dahuabai, Meishan, Tongcheng, Yushan, Large White, and Duroc pigs. Association of the genotypes with growth and carcass traits showed that different genotypes of FoxO3a were associated with carcass length and backfat thickness between 6th and 7th ribs (BTR) and drip loss (p<0.05).

• Asian Pacific Journal of Cancer Prevention
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• 제15권1호
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• pp.299-304
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• 2014

Cholangiocarcinoma (CCA), a malignancy of biliary duct with a very poor prognosis, is the leading cause of cancer death in countries of the Mekong subregion. Liver fluke infection is the main etiological factor, but genetic variation has been recognized as also important in conferring susceptibility to CCA risk. Nuclear factor (erythroid derived 2)-like 2 (NRF2) is a key transcription factor in detoxification and antioxidant defense. Emerging evidence has demonstrated that genetic polymorphisms in the NRF2 gene may be associated with cancer development. The objectives of this study were to investigate the association of NRF2 genetic polymorphism with CCA risk and to evaluate the influence of the NRF2 genotype on survival time of affected patients. Single nucleotide polymorphisms (SNPs) of the NRF2 gene, including rs6726395: A/G, rs2886161: C/T, rs1806649: C/T, and rs10183914: C/T, were analyzed using TaqMan$^{(R)}$ SNP genotyping assays. Among 158 healthy northeastern Thai subjects, the allele frequencies were 41, 62, 94, and 92%, respectively. The correlation of NRF2 SNPs and CCA risk was analyzed in the 158 healthy subjects and 198 CCA patients, using unconditional logistic regression. The results showed that whereas the NRF2 SNPs were not associated with CCA risk (p>0.05), Kaplan-Meier analysis of 88 intrahepatic CCA patients showed median survival time with rs6726395 genotypes of GG and AA/AG to be $344{\pm}138$ (95%CI: 73-615) days and $172{\pm}37$ (95%CI: 100-244) days, respectively, (p<0.006). On multivariate Cox proportional hazard analysis, the GG genotype of rs6726395 was found to be associated with longer survival with a hazard ratio of 0.54 (95%CI: 0.31-0.94). In addition, non-papillary adenocarcinoma was associated with poor survival with a hazard ratio of 2.09 (95%CI: 1.16-3.75). The results suggest that the NRF2 rs6726395 polymorphism can be a potential prognostic biomarker for CCA patients.

• Asian Pacific Journal of Cancer Prevention
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• 제17권3호
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• pp.1215-1219
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• 2016

Background: Worldwide, breast cancer is the most common cancer among women and is a leading cause of cancer death. In the present study, we investigated the NQO1 C609T genotypic and allelic distribution in north Indian breast cancer patients. Materials and Methods: The genotypic distribution of the NQ01 C609T polymorphism was assessed in 100 invasive ductal carcinoma (IDC) breast cancer patients and 100 healthy controls using allele specific PCR (AS-PCR). Results: A lower frequency of the CC genotype was found in breast cancer patients (24%) than in the controls. On the other hand, TT genotype frequency was also found to be higher in female healthy controls (32%) than the female breast cancer patients (20%). The frequencies of all three genotypes CC, CT, TT in patients were 24%, 56% and 20% and in healthy controls 50%, 22% and 32% respectively. We did not find any significant correlation between the NQO1 C609T polymorphism and age group, grading, menopausal status and distant metastasis. A less significant association was found between the NQ01 C609T polymorphism and the stage of breast cancer (X2=5.931, P=0.05). Conclusions: The present study shows a strong association between NQO1 C609T polymorphism with the breast cancer risk in the north Indian breast cancer patients so that possible use as a risk factor should be further expel.