• 제목/요약/키워드: Allele Frequencies

검색결과 392건 처리시간 0.026초

주의력결핍 과잉행동장애와 노르에피네프린 수송체 유전자 다형성의 연관성 (Case-Control Association Study of the Norepinephrine Transporter Gene Polymorphism in Children with ADHD)

  • 송정은;육기환;이성희;김소원;이민구;홍현주
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제21권1호
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    • pp.23-30
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    • 2010
  • Objectives : This study aimed to examine the association between norepinephrine transporter gene (SLC6A2) polymorphisms and attention-deficit hyperactivity disorder (ADHD) and to examine the relationship between the genotypes and allele variants of SLC6A2 and results of the Korean version of the parent ADHD rating scale (K-ARS). Methods : We examined the association between ADHD and norepinephrine transporter gene polymorphism using DNA from 137 Korean children with ADHD and 120 normal controls. We compared the genotype distributions and allele frequencies of SLC6A2 polymorphism between the control group and the ADHD group. Then, we correlated the children's K-ARS mean totals, inattention scores, and hyperactivity/impulsivity scores with the genotypes and alleles for each SLC6A2 polymorphism. Results : There were no significant differences in genotype and allele distribution for each SLC6A2 polymorphism, as shown by the Chi-square test (p>.01). There was a trend toward a difference in allele frequency in rs 5568, but it was not statistically significant after adjusting for multiple comparisons (p=.048). Also, there were no significant differences in K-ARS scores according to the genotypes and alleles for the SLC6A2 polymorphisms. Conclusion : Our study found no significant evidence of an association between SLC6A2 polymorphisms and ADHD.

ACE와 ACTN3의 다중유전형질과 근력운동 경기력간의 관계 (Polygenic Association of ACE and ACTN3 Polymorphisms with Korean Power Performance)

  • 김철현
    • 생명과학회지
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    • 제22권3호
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    • pp.398-406
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    • 2012
  • 이 연구는 한국인에서 적용할 수 있는 근력관련 유전적 소인을 ACE 유전자와 ACTN3 유전자를 단일유전자 수준과 다중유전자 수준에서 관계성을 규명하는데 목적이 있다. 연구의 목적을 위해 근력운동종목의 엘리트선수 158명, 국가대표선수 106명, 대조군 676명을 동원하여 ACE ID 다형성과 ACTN3 R577X 다형성 분포를 분석했다. 연구결과, ACE 다형성에서 II 유전형 및 I 대립형질은 유의하게 높은 분포를 가졌고, 반면 DD 유전형 및 I 대립형 질은 유의하게 낮은 분포를 가졌다(Top-Class vs. Control: 41.4% vs. 32.1 for II genotype, 67.1% vs. 57.7% for I allele, p<0.05). ACTN3 다형성에서 RR 유전형 및 R 대립형질은 유의하게 높았고 XX 유전형 및 R 대립형질은 유의하게 낮았다(Top-Class vs. Control: 42.3% vs. 29.0 for RR genotype, 65.3% vs. 54.8% for R allele, p<0.05). 다중유전자 수준에서 근력은 ACE 다형성과 ACTN3 다형성이 조합된 우성조합유전형(II/ID+RR/RX)이 최우수 경기력에서 유의하게 높은 분포를 가졌다(Top-Class vs. Control: 82.9% vs. 66.7% for II/ID+RR/RX, p<0.05). 또한 최우수 경기력을 가진 국가대표는 엘리트와 대조군 보다 유의하게 높은 TGS를 가졌다($66{\pm}0.9$ vs. $58{\pm}1.9$ vs. $56{\pm}2.3$, p<0.05). 이를 근거로 우성조합유전형이 최우수 근력 경기력을 가질 가능성에 대한 승산비는 2.43배(CI:1.45-4.09, p<0.001)였다. 따라서 ACE 다형성과 ACTN3 다형성은 한국인에서 근력과 관계된 유전형으로 확인되었으며, 두 유전자는 상호 조합된 다중유전형에서 근력 경기력에 영향을 줄 것으로 사료된다. 또한 ACE 다형성과 ACTN3 다형성을 조합한 다중유전자는 근력 경기력을 예측할 수 있은 유전적 요인으로 사료되었다.

Association of Sequence Variations in DGAT 1 Gene with Economic Traits in Hanwoo (Korea Cattle)

  • Kong, H.S.;Oh, J.D.;Lee, J.H.;Yoon, D.H.;Choi, Y.H.;Cho, B.W.;Lee, H.K.;Jeon, G.J.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권6호
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    • pp.817-820
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    • 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.

Further Evidence of Linkage at the tva and tvc Loci in the Layer Lines and a Possibility of Polyallelism at the tvc Locus

  • Ghosh, A.K.;Pani, P.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제18권5호
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    • pp.601-605
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    • 2005
  • Three lines of White Leghorn (WL) chickens (IWJ, IWG and IWC) maintained at Central Avian Research Institute, Izatnagar (UP), were used for chorioallantoic membrane (CAM) and liver tumour (LT) assay. Eleven-day-old embryos of each line were partitioned into three groups and inoculated with 0.2 ml of subgroup A, subgroup C and an equal mixture of subgroup A and C Rous sarcoma virus (RSV). Subgroup virus receptor on the cell surface membrane for subgroup A is coded for by tumour virus a (tva) locus and for subgroup C by tumour virus c (tvc) locus. The random association of the genes at the tva and tvc loci in IWJ and IWC line was assessed and the $x^2$-values for phenotypic classes were found to be significant, indicating the linkage between the tva and tvc loci. The linkage value was estimated to be 0.09 on pooled sex and pooled line basis. On the basis of four subclass tumour phenotypes a 4-allele model was proposed for tva locus having $a^{s1}$, $a^{s2}$, $a^{r1}$ and $a^{r2}$ alleles and the frequencies were calculated as 0.47, 0.13, 0.13 and 0.27 for IWJ line, 0.31, 0.33, 0.14 and 0.22 for IWG line and 0.44, 0.11, 0.21 and 0.24 for IWC line, respectively. Similarly, for tvc locus the frequencies of four alleles i.e. $c^{s1}$, $c^{s2}$, $c^{r1}$ and $c^{r2}$ were calculated as 0.42, 0.20, 0.21 and 0.17 for IWJ line, 0.42, 0.17, 0.27 and 0.14 for IWG line and 0.30, 0.21, 0.16 and 0.33 for IWC line, respectively. The $x^2$-values for all classes of observations were not significant (p>0.05), indicating a good fit to the 4-allele model for the occurrence of 4-subclass tumour phenotypes for tva and tvc loci. On the basis of the 2-allele model both tva and tvc locus carries three genotypes each. But, on the basis of the 4-allele model tva and tvc locus carries 10 genotypes each. The interaction between A-resistance and C-resistance (both CAM and LT death) was ascertained by taking the 10 genotypes of tva locus and 3 genotypes of tvc locus by pooling the lines and partitioning the observations into 3 classes. The $x^2$-values for the genotypic classes of CAM (-) LT (+) and CAM (-) LT (-) phenotypes to mixed virus (A+C) infection were found to be highly significant (p<0.01), indicating increased resistance, which indicates the joint segregation of $a^r$ and $c^r$ genes, suggesting the existence of close linkage between the tva and tvc loci. Therefore, an indirect selection approach using subgroup C viruses can be employed to generate stocks resistant to subgroup A LLV, obviating contamination with the most common agent causing LL in field condition.

Investigation of PCR-RFLPs within Major Histocompatibility Complex B-G Genes Using Two Restriction Enzymes in Eight Breeds of Chinese Indigenous Chickens

  • Xu, R.F.;Li, K.;Chen, G.H.;Qiang, B.Y.Z.;Mo, D.L.;Fan, B.;Li, C.C.;Yu, M.;Zhu, M.J.;Xiong, T.A.;Liu, Bang
    • Asian-Australasian Journal of Animal Sciences
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    • 제18권7호
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    • pp.942-948
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    • 2005
  • New polymorphism of major histocompatibility complex B-G genes was investigated by amplification and digestion of a 401bp fragment including intron 1 and exon 2 using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique with two restriction enzymes of Msp I and Tas I in eight breeds of Chinese indigenous chickens and one exotic breed. In the fragment region of the gene, three novel single nucleotide polymorphisms (SNPs) were detected at the two restriction sites. We found the transition of two nucleotides of A294G and T295C occurred at Tas I restriction site, and consequently led to a non-synonymous substitution of asparagine into serine at position 54 within the deduced amino acid sequence of immunoglobulin variable-region-like domain encoded by the exon 2 of B-G gene. It was observed at rare frequency that a single mutation of A294G occurring at the site, also caused an identical substitution of amino acid, asparagine 54-to-serine, to that we described previously. And the transversion of G319C at Msp I site led to a non-synonymous substitution, glutamine 62-to-histidine. The new alleles and allele frequencies identified by the PCR-RFLP method with the two enzymes were characterized, of which the allele A and B frequencies at Msp I and Tas I loci were given disequilibrium distribution either in the eight Chinese local breeds or in the exotic breed. By comparison, allele A at Msp I locus tended to be dominant, while, the allele B at Tas I locus tended to be dominant in all of the breeds analyzed. In Tibetan chickens, the preliminary association analysis revealed that no significant difference was observed between the different genotypes identified at the Msp I and Tas I loci and the laying performance traits, respectively.

Association Study Between Genetic Polymorph isms in Interleukin-1 Gene Family and Adult Periodontitis in Korean

  • Kang, ByungYong;Kang, Chin Yang;Lee, Kang Oh
    • Toxicological Research
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    • 제20권4호
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    • pp.299-305
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    • 2004
  • Adult periodontitis (AP) is a chronic inflammatory disease whose etiology is not well defined. Some studies suggested that the clinical characteristics of this disease may be in part explained by genetic factors, and some attempts to find genetic markers for this disease were successful. The interleukin-1 (IL-1) gene family as one of genetic factors may influence the expression of adult periodontitis. The aim of present study is to investigate the frequencies of genetic polymorphisms in the IL-1 gene family encoding three genes (IL-1A, IL-1B and IL-1RN) in Korean AP patients and periodontically healthy controls. There were no significant differences in genotype and allele frequencies of these polymorph isms between two groups, respectively. However, -511 polymorphism of IL-1 B gene was significantly associated with mean pocket depth (MPD, mm) value in AP patients (P<0.05). Therefore, our results suggest that -511 polymorphism in the IL-1B gene may be useful as a genetic marker for the severity of AP in Koreans.

한국인 집단의 유전학적 연구 16. Compiement Component 6의 유전적 다형 (Molecular Genetic Studies of Korean Population. 16. Genetic Polymorphim of the Sixth Complement Component (C6))

  • 박경숙;김영진;목지원;이미혜
    • 한국동물학회지
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    • 제34권2호
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    • pp.228-231
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    • 1991
  • 한국인 383명의 Compiement Component 6(C6)의 유전적 다형을 등전점 전기영동과 immunoblotting으로 조사하였다. 5가지 allotypes, C6 A, C6 B, C6 B2, C6 Ml, C6 M11이 나타났고, 이들의 대립유전인자 빈도는 C6*A=0.4399, C6*B=0.5144, C6*B2=0.0392로 산출되어 이는 동아시아인과 비슷하였다.

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Distribution and Haplotype Associations of XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln Polymorphisms with Nasopharyngeal Carcinoma in the Malaysian Population

  • Visuvanathan, Shaneeta;Chong, Pei-Pei;Yap, Yoke-Yeow;Lim, Chin-Chye;Tan, Meng-Kuan;Lye, Munn-Sann
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권6호
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    • pp.2747-2751
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    • 2014
  • Background: DNA repair pathways play a crucial role in maintaining the human genome. Previous studies associated DNA repair gene polymorphisms (XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln) with nasopharyngeal carcinoma. These non-synonymous polymorphisms may alter DNA repair capacity and thus increase or decrease susceptibility. The present study aimed to determine the genotype distribution of XPD codon 751, XRCC1 codon 280 and codon 399 polymorphisms and haplotype associations among NPC cases and controls in the Malaysian population. Materials and Methods: We selected 157 NPC cases and 136 controls from two hospitals in Kuala Lumpur, Malaysia for this study. The polymorphisms studied were genotyped by PCR-RFLP assay and allele and genotype frequenci es, haplotype and linkage disequilibrium were determined using SNPstat software. Results: For the XPD Lys751Gln polymorphism, the frequency of the Lys allele was higher in cases than in controls (94.5% versus 85.0%). For the XRCC1 Arg280His polymorphism, the frequency of Arg allele was 90.0% and 89.0% in cases and controls, respectively and for XRCC1 Arg399Gln the frequency of the Arg allele was 72.0% and 72.8% in cases and controls respectively. All three polymorphisms were in linkage disequilibrium. The odds ratio from haplotype analysis for these three polymorphisms and their association with NPC was 1.93 (95%CI: 0.90-4.16) for haplotype CGC vs AGC allele combinations. The global haplotypte association with NPC gave a p-value of 0.054. Conclusions: Our study provides an estimate of allele and genotype frequencies of XRCC1Arg280His, XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms in the Malaysian population and showed no association with nasopharyngeal cancer.

한국인 정신분열병 환자와 Catalase 유전자 다형성의 연합 (The Association between Korean Schizophrenics and Catalase Gene Polymorphism)

  • 박진경;이희제;반건호;박종득;정주호;장환일
    • 생물정신의학
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    • 제9권1호
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    • pp.62-67
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    • 2002
  • 본 연구에서는 정신분열병과 antioxidant defense system사이의 관련성을 알아보기 위해 항산화 효소(antioxidant enzyme)중의 하나인 CAT의 유전자 다형성을 한국인 정신분열병 환자군과 대조군 사이에서 비교 분석하였다. 환자군과 대조군의 HinfI 다형성에 따른 CAT유전자형과 대립유전자형의 빈도는 통계적으로 유의한 차이는 없었지만, 여성 정신분열병 환자군과 여성 대조군 사이의 유전자형 빈도에서는 통계적으로 유의한 차이를 나타내었다. 연구결과 CAT유전자가 여성 정신분열병과 관련이 있을 수 있다는 가능성이 제시된다.

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한국 재래닭의 경제형질 개량을 위한 apoVLDL-II 유전자의 유전자형 분석 (Genotype Analysis of apoVLDL-II Gene in Korean Chicken Breeds)

  • 정기철;이유주;;장병귀;최강덕;이준헌
    • 한국가금학회지
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    • 제35권4호
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    • pp.335-339
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    • 2009
  • 초저밀도 아포지단백(Very Low Density Apolipoprotein-II)은 조직의 지방단백질 분비 조성과 밀접한 관련이 있다고 알려진 유전자로서 최근 닭에서 성장 및 체구성과 매우 높은 연관이 있다고 알려져 있다. 본 연구는 닭의 3품종에서 PCR-RFLP 방법을 통해 apoVLDL-II 유전자의 유전자형을 분석하고 Broiler 형(B)과 Fayoumi 형(F)을 결정하였다. 각 품종간 유전자형 빈도는 한국 재래계에서 BB가 0.37, BF가 0.43, FF가 0.2로 검출되었고, 오계에서 BB가 0.2, BF가 0.6, FF가 0.2로 검출되었으며, 백색레그혼에서 BB가 0.16, BF가 0.84로 검출되었다. Broiler 형은 성장이나 체구성을 높이는 방향으로 작용한다는 기존의 보고를 바탕으로 본 연구에서 나타난 집단내 다양한 유전자형 분포는 재검증 작업을 거쳐 육종에 의해 이 형질들을 개량할 수 있음을 의미한다.