• 제목/요약/키워드: Heterozygote

검색결과 135건 처리시간 0.024초

팔당산 호밀(Secale cereale) B 염색체의 출현빈도에 대하여 (Frequency of B-chromosomes in Rye (Secale cereale) Cultivated in Paldang)

  • 이웅직
    • Journal of Plant Biology
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    • 제24권4호
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    • pp.181-190
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    • 1981
  • 1963년부터 1977년까지 팔당산 호밀의 B 염색체의 출현빈도를 조사한 결과는 다음과 같다. 2%(1963), 8%(1964), 8%(1965), 15%(1966), 11.5%(1968), 11.7%(1969), 20%(1975), 19.6%(1976), 12.8%(1977). $x^2$검정의 결과는 각 년도에 있어서의 B'의 출현빈도 사이에 유의차가 없음을 나타내고 있다. 1976년과 1977년에는 호밀 밭을 10개 구로 나누어 재료를 수집하여 B'의 분포와 표본채취의 결과를 분석하였다. 호밀의 B'는 집단내에서 비교적 균일하게 분포되고 있으며 최소 50개체를 관찰하면 호밀 집단의 B'의 출현빈도를 대략 알 수가 있었다. 팔당산 호밀 집단에서 1966년부터 1977년까지 계속하여 전좌이형접합체(T.H)에 의한 사가염색체를 가진 개체가 1~7%의 빈도로 관찰되었다.

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ABCG2 C421A 다형성이 만성 골수성 백혈병 환자의 imatinib 치료에 미치는 영향: 체계적 문헌고찰 및 메타분석 (ABCG2 C421A Polymorphism and Imatinib Response in Chronic Myeloid Leukemia: A Systematic Review and Meta-Analysis)

  • 오다현;천부순
    • 한국임상약학회지
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    • 제26권1호
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    • pp.53-58
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    • 2016
  • Objective: To estimate the association between ABCG2 C421A polymorphism and response to imatinib in chronic myeloid leukemia. Methods: A systematic review was conducted to evaluate the effect of ABCG2 C421A polymorphism on imatinib response. The databases of PubMed, Embase, Web of science, CINAHL with FullText, and Cochrane Library were searched for all published studies from inception to December 2015. The following terms were used with functions of 'AND' and 'OR': 'chronic myeloid leukemia', 'CML', 'drug transporter', 'ABCG2', 'BCRP', 'polymorphisms', 'SNPs', and 'imatinib'. The studies reporting the association between ABCG2 polymorphism and imatinib response were evaluated. Results: A total of 7 studies were included in the present meta-analysis. The pooled analysis showed that ABCG2 c.421CC genotype was significantly associated with poor response to imatinib under the dominant model (CC vs CA+AA; OR: 0.56; 95% CI: 0.41, 0.77; p = 0.0004). The subgroup analysis of Asian studies demonstrated a significantly lower response in c.421CC genotype than in c.421CA or c.421AA genotype (OR: 0.52; 95% CI: 0.37, 0.73; p = 0.0002). In subgroup analyses of 5 studies, the patients with the c.421CC genotype exhibited higher risk for worse response than the patients with c.421CA or c.421AA genotype (heterozygote codominant model: CC vs. AC; OR: 0.49, 95% CI: 0.33, 0.73; p = 0.0006; homozygote codominant model: CC vs AA; OR: 0.43; 95% CI: 0.25, 0.75, p = 0.003). Conclusion: The ABCG2 c.421CC genotype was significantly associated with poor response to imatinib compared to the c.421CA and c.421AA genotypes in chronic myeloid leukemia, especially in Asian patients.

Genetic Diversity and Relationships of Korean Chicken Breeds Based on 30 Microsatellite Markers

  • Suh, Sangwon;Sharma, Aditi;Lee, Seunghwan;Cho, Chang-Yeon;Kim, Jae-Hwan;Choi, Seong-Bok;Kim, Hyun;Seong, Hwan-Hoo;Yeon, Seong-Hum;Kim, Dong-Hun;Ko, Yeoung-Gyu
    • Asian-Australasian Journal of Animal Sciences
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    • 제27권10호
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    • pp.1399-1405
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    • 2014
  • The effective management of endangered animal genetic resources is one of the most important concerns of modern breeding. Evaluation of genetic diversity and relationship of local breeds is an important factor towards the identification of unique and valuable genetic resources. This study aimed to analyze the genetic diversity and population structure of six Korean native chicken breeds (n = 300), which were compared with three imported breeds in Korea (n = 150). For the analysis of genetic diversity, 30 microsatellite markers from FAO/ISAG recommended diversity panel or previously reported microsatellite markers were used. The number of alleles ranged from 2 to 15 per locus, with a mean of 8.13. The average observed heterozygosity within native breeds varied between 0.46 and 0.59. The overall heterozygote deficiency ($F_{IT}$) in native chicken was $0.234{\pm}0.025$. Over 30.7% of $F_{IT}$ was contributed by within-population deficiency ($F_{IS}$). Bayesian clustering analysis, using the STRUCTURE software suggested 9 clusters. This study may provide the background for future studies to identify the genetic uniqueness of the Korean native chicken breeds.

Association between the DICER rs1057035 Polymorphism and Cancer Risk: Evidence from a Meta-analysis of 1,2675 Individuals

  • Yu, Yan-Yan;Kuang, Dan;Yin, Xiao-Xv
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권1호
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    • pp.119-124
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    • 2015
  • Background: DICER, one of the microRNA (miRNA) biogenesis proteins, is involved in the maturation of miRNAs and is implicated in cancer development and progression. The results from previous epidemiological studies on associations between DICER rs1057035 polymorphism and cancer risk were inconsistent. Thereforewe performed this meta-analysis to summarize possible associations. Materials and Methods: We searched all relevant articles on associations between DICER rs1057035 polymorphism and cancer risk from PubMed, EMBASE, Chinese Biomedical Literature and Chinese National Knowledge Infrastructure until August 2014. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess any associations. Heterogeneity tests, sensitivity analyses and publication bias assessments were also performed in this meta-analysis. All analyses were conducted using STATA software. Results: Seven case-control studies, including 4,875 cancer cases and 7,800 controls were included in the meta-analysis. Overall, the results indicated that the C allele of DICER rs1057035 polymorphism was significantly associated with decreased cancer risk in allelic comparison, heterozygote and dominant genetic models (C vs T: OR=0.88, 95%CI 0.81-0.95, p=0.002; TC vs TT: OR=0.85, 95%CI 0.77-0.93, p=0.001; CC/TC vs TT: OR=0.86, 95%CI 0.78-0.94, p=0.001). In the subgroup analysis by ethnicity, a significantly decreased cancer risk was found in Asian but not Caucasian populations. Conclusions: The present meta-analysis suggests that the C allele of the DICER rs1057035 polymorphism probably decreases cancer risk. However, this association may be Asian-specific and the results should be treated with caution. Further well-designed studies based on larger sample sizes and group of populations are needed to validate these findings.

Genetic Polymorphism of Interleukin-1A (IL-1A), IL-1B, and IL-1 Receptor Antagonist (IL-1RN) and Prostate Cancer Risk

  • Xu, Hua;Ding, Qiang;Jiang, Hao-Wen
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권20호
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    • pp.8741-8747
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    • 2014
  • Purpose: We aimed to investigate the associations between polymorphisms of interleukin-1A (IL-1A), IL-1B, and IL-1 receptor antagonist (IL-1RN) and prostate cancer (PCa) risk. Materials and Methods: A comprehensive search for articles of MEDLINE and EMBASE databases and bibliographies of retrieved articles published up to August 3, 2014 was performed. Methodological quality assessment of the trials was based on a standard quality scoring system. The meta-analysis was performed using STATA 12.0. Results: We included 9 studies (1 study for IL-1A, 5 studies for IL-1B, and 3 studies for IL-1RN), and significant association was found between polymorphisms of IL-1B-511 (rs16944) as well as IL-1B-31 (rs1143627) and PCa risk. IL-1B-511 (rs16944) polymorphism was significantly associated with PCa risk in homozygote and recessive models, as well as allele contrast (TT vs CC: OR, 0.74; 95%CI, 0.58-0.94; P=0.012; TT vs TC+CC; OR, 0.79; 95%CI, 0.63-0.98; P=0.033; T vs C: OR, 0.86; 95%CI, 0.77-0.96; P=0.008). The association between IL-1B-31 (rs1143627) polymorphism and PCa risk was weakly significant under a heterozygote model (OR, 1.35; 95%CI, 1.00-1.80; P=0.047). Conclusions: Sequence variants in IL-1B-511 (rs16944) and IL-1B-31 (rs1143627) are significantly associated with PCa risk, which provides additional novel evidence that proinflammatory cytokines and inflammation play an important role in the etiology of PCa.

The CCND1 G870A Gene Polymorphism and Brain Tumor Risk: a Meta-analysis

  • Qin, Ling-Yan;Zhao, Li-Gang;Chen, Xu;Li, Ping;Yang, Zheng;Mo, Wu-Ning
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권8호
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    • pp.3607-3612
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    • 2014
  • Background: In recent years, numerous studies have been performed to investigate the CCND1 G870A gene polymorphism impact on brain tumors susceptibility. Unfortunately, the results of previous studies were inconsistent. Therefore, we performed a meta-analysis to derive a more precise estimation of any association. Materials and Methods: We conducted a search in PubMed, Embase and CNKI covering all published papers up to November, 2013. Odds ratios (ORs) and their 95% confidence intervals (95%CIs) were applied to assess associations. Results: A total of 6 publications including 9 case-control studies met the inclusion criteria. The pooled ORs for the total included studies showed significant association among comparison A vs G (OR= 1.246, 95%CI= 1.092-1.423, p= 0.001), homozygote comparison AA vs GG (OR= 1.566, 95%CI= 1.194-2.054, p= 0.001), heterozygote comparison AG vs GG (OR= 1.290, 95%CI= 0.934-1.782, p= 0.122), dominant model AA/GA vs GG (OR= 1.381, 95%CI= 1.048-1.821, p= 0.022) and recessive model AA vs GA/GG (OR= 1.323, 95%CI= 1.057-1.657, p= 0.015) especially in glioma. Conclusions: CCND1 G870A polymorphism may increase brain tumor risk, especially for gliomas. However, more primary large scale and well-designed studies are still required to evaluate the interaction of CCND1 G870A polymorphism with brain tumor risk.

Association Between Single Nucleotide Polymorphisms in the XRCC1 Gene and Susceptibility to Prostate Cancer in Chinese Men

  • Zhou, Yun-Feng;Zhang, Guang-Bo;Qu, Ping;Zhou, Jian;Pan, Hui-Xin;Hou, Jian-Quan
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권10호
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    • pp.5241-5243
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    • 2012
  • Background: Prostate cancer (Pca) is one of the most common complex and polygenic diseases in men. The X-ray repair complementing group 1 gene (XRCC1) is an important candidate in the pathogenesis of Pca. The purpose of this study was to evaluate the association between single nucleotide polymorphisms in the XRCC1 gene and susceptibility to Pca. Materials and Methods: XRCC1 gene polymorphisms and associations with susceptibility to Pca were investigated in 193 prostate patients and 188 cancer-free Chinese men. Results: The c.910A>G variant in the exon9 of XRCC1 gene could be detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing methods. Significantly increased susceptibility to prostate cancer was noted in the homozygote comparison (GG versus AA: OR=2.95, 95% CI 1.46-5.42, ${\chi}^2$=12.36, P=0.001), heterozygote comparison (AG versus AA: OR=1.76, 95% CI 1.12-2.51, ${\chi}^2$=4.04, P=0.045), dominant model (GG/AG versus AA: OR=1.93, 95% CI 1.19-2.97, ${\chi}^2$=9.12, P=0.003), recessive model (GG versus AG+AA: OR=2.17, 95% CI 1.33-4.06, ${\chi}^2$=8.86, P=0.003) and with allele contrast (G versus A: OR=1.89, 95% CI 1.56-2.42, ${\chi}^2$=14.67, P<0.000). Conclusions: These findings suggest that the c.910A>G polymorphism of the XRCC1 gene is associated with susceptibility to Pca in Chinese men, the G-allele conferring higher risk.

우울증의 약물유전체학 (Pharmacogenomics of Depressive Disorders)

  • 함병주;이민수
    • 생물정신의학
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    • 제8권2호
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    • pp.226-232
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    • 2001
  • The pharmacotherapy of depression has reduced morbidity and improved outcome for many depressive patients. A wide range of classical and new antidepressants are available for their treatment. However, 30-40% of all patients do not respond sufficiently to the initial treatment and present adverse effects. Pharmacogenetics studies the genetic basis of an individual's ability to respond to pharmacotherapy. Recently, some reports on serotonin transporter gene polymorphisms and their influence on the response to antidepressive therapy provide an interesting diagnostic tool in assessing the chances of response to antidepressants. We also investigated the relationship between serotonin transprter polymorphisms(5-HTTLPR) and the long-term effect of the antidepressant treatment. 128 depressive patients were enrolled into 2nd year study. The therapeutic response of each subset was not different at 8th, 16th week, but the subset with homozygote(l/l) of long variant showed a better therapeutic response to antidepressant than the heterozygote(l/s) of long and short variant, which showed a better therapeutic response than the subset with homozygote (s/s) of short variant at 1st year and 2nd year after the antidepressant treatment. This result shows that the serotonin transporter polymorphisms may be related to the long-term effect of antidepressant treatment. The potential for pharmacogenomics, the use of genetic information to guide pharmacotherapy and improve outcome by providing individualized treatment decisions, has gained increasing attention. pharmacogenomics will contribute to individualize drug choice by using genotype to predict positive clinical outcomes, adverse reactions, and levels of drug metabolism. Personalized medicine, the use of marker-assisted diagnosis and targeted therapies derived from an individual molecular profile, will impact the antidepressant therapy and this approach will replace the traditional trial-and-error practice of medicine.

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배추과 작물의 자가불화합성 유전자의 발현 및 조절 (Expression and regulation of self-incompatible genes in Brassica)

  • 박종인;이인호;;노일섭
    • Journal of Plant Biotechnology
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    • 제37권2호
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    • pp.186-195
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    • 2010
  • In most self-incompatible plant species, recognition of self-pollen is controlled by a single locus, termed the S-locus. The self-incompatibility (SI) system in Brassica is controlled sporophytically by multiple alleles at a single locus, designated as S, and involves cell-cell communication between male and female. Two highly polymorphic S locus genes, SLG (S locus glycoprotein) and SRK (S receptor kinase), have been identified, both of which are expressed predominantly in the stigmatic papillar cell. Gain-of-function experiments have demonstrated that SRK solely determines S haplotype-specificity of the stigma, while SLG enhances the recognition reaction of SI. The sequence analysis of the S locus genomic region of B. campestris (syn. rapa) has led to the identification of an anther-specific gene, designated as SP11/SCR, which is the male S determinant. Molecular analysis has demonstrated that the dominance relationships between S alleles in the stigma were determined by SRK itself, but not by the relative expression level. In contrast, the expression of SP11/SCR from the recessive S allele was specifically suppressed in the S heterozygote, suggesting that the dominance relationships in pollen were determined by the expression level of SP11/SCR. Furthermore, recent studies on recessive allele-specific DNA methylation of Brassica self-incompatibility alleles demonstrate that DNA methylation patterns in plants can vary temporally and spatially in each generation. In this review, we firstly present overview of self incompatibility system in Brassica and then describe dominance relationships in Brassica self- incompatibility regulated by allele-specific DNA methylation.

한국 재래돼지 브랜드 돈육 원산지 검증을 위한 유전자 원산지 감식 기법 활용 연구 (Application of DNA Test for Individual Traceability in the Brand Marketing of Korean Native Pig.)

  • 최봉암;이학교;전광주;오재돈;최일신;박미현;공홍식;정일정;김태헌;윤두학;조병욱
    • 한국유기농업학회지
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    • 제12권2호
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    • pp.197-207
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    • 2004
  • Identification of animals has been used with an e ar tag with dummy code and blood typing has been used for paternity and individual identification in live animals. Various genetic markers are different for breeds of pig and hence, it is necessary to identity the discrete genetic marker in korean native pig. A total of 240 pigs were used to find korean native pig population specific markers that expressed in population of korean native pigs. To identify the individual traceability, 20 animals were randomly chosen and tested for a whole process from being live to slaughter stages. The candidate genetic marker used in the study were 18 DNA microsatellites which were identified in pig genome. The number of alleles of those DNA microsatellites ranged form a minimum of 3 to maximum of 6. The heterozygote frequency rang6d from 0.44 to 0.69. Effective number of alleles for each DNA microsatellotes were 2 to 4. By choosing 6 candidate genetic markers among all, the traceability of individual identification was estimated as accurate as 99.99%(p>0.0014), nearly.

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