• 제목/요약/키워드: population genetics

검색결과 446건 처리시간 0.034초

집단 및 가족기반연구에서의 유전적 연관성 분석 고찰: 방법론과 소프트웨어 (A Review of Genetic Association Analyses in Population and Family Based Data: Methods and Software)

  • 이효정;김민지;박미라
    • 응용통계연구
    • /
    • 제23권1호
    • /
    • pp.95-111
    • /
    • 2010
  • 최근 단일염기다형성 및 일배체형을 이용한 질병-유전자간 연관성연구가 많이 진행되고 있으며, 이를 위한 다양한 분석방법과 분석도구가 개발되고 있다. 그러나 통합 소프트웨어는 충분히 확립되지 못하였으며, 각 소프트웨어가 제공하는 분석방법 및 양식에 차이가 많아 연구자가 적절한 것을 선택하기가 쉽지 않다. 본고에서는 유전적 연관성연구를 사전분석단계, 집단기반연구방법, 가족기반연구방법으로 나누어 각각의 목적에 따른 분석방법을 고찰하고, 이의 분석을 위한 주요 소프트웨어로서 FBAT, SAS/Genetics, SAGE, R의 지원내용과 방법을 비교하였다.

EFFECT OF BREEDING LENGTH ON GENETIC IMPROVEMENT IN JAPANESE HOLSTEIN POPULATION

  • Terawaki, Y.;Shimizu, H.;Fukui, Y.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제9권4호
    • /
    • pp.363-370
    • /
    • 1996
  • The effect of breeding length of sire on genetic progress was examined in the Holstein dairy cattle population in Japan. Genetic progress was extimated by gene flow method. Breeding length of sires directly influences the replacement rates of sires and the selection intensity of sires because there are a fixed number of progeny tested young bulls per year. As breeding length of sires increased, rate of gene flow decreased and average proportions of genes deriving from selected animals had lower asymptotic values. When breeding length was short, average proportions of genes required a longer period to converge to asymptotic values. Changes of Rcow-sire's(sire to breed recorded cows) and Ncow-sire's(sire to breed non recorded cows) breeding length influenced not only transmission of their genes but also that of genes derived from all other selected animals. Irrespective of whether the discount rate was assumed to be 0 or 6%, longer term (${\geq}$ 20 years) expected total genetic improvement was maximized by a sire breeding length of five years. For shorter term assessment(10 years), genetic improvement was maximized by a sire breeding length of three years. There was a linear increase in the contribution of the sire to bulls pathway to the total genetic improvement, with increase in the term of assessment.

Comparative Analysis of Repetitive Elements of Imprinting Genes Reveals Eleven Candidate Imprinting Genes in Cattle

  • Kim, HyoYoung;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제22권6호
    • /
    • pp.893-899
    • /
    • 2009
  • Few studies have reported the existence of imprinted genes in cattle compared to the human and mouse. Genomic imprinting is expressed in monoallelic form and it depends on a single parent-specific form of the allele. Comparative analysis of mammals other than the human is a valuable tool for explaining the genomic basis of imprinted genes. In this study, we investigated 34 common imprinted genes in the human and mouse as well as 35 known non-imprinted genes in the human. We found short interspersed nuclear elements (SINEs), long interspersed nuclear elements (LINEs), and long terminal repeats (LTRs) in imprinted (human and mouse) and control (cattle) genes. Pair-wise comparisons for the three species were conducted using SINEs, LINEs, and LTRs. We also calculated 95% confidence intervals of frequencies of repetitive sequences for the three species. As a result, most genes had a similar interval between species. We found 11 genes with conserved SINEs, LINEs, and LTRs in the human, mouse, and cattle. In conclusion, eleven genes (CALCR, Grb10, HTR2A, KCNK9, Kcnq1, MEST, OSBPL5, PPP1R9A, Sgce, SLC22A18, and UBE3A) were identified as candidate imprinted genes in cattle.

유전자 알고리듬을 이용한 트러스/보 구조물의 기하학적 치수 및 토폴로지 최적설계에 관한 연구 (A study on the optimal sizing and topology design for Truss/Beam structures using a genetic algorithm)

  • 박종권;성활경
    • 한국정밀공학회지
    • /
    • 제14권3호
    • /
    • pp.89-97
    • /
    • 1997
  • A genetic algorithm (GA) is a stochastic direct search strategy that mimics the process of genetic evolution. The GA applied herein works on a population of structural designs at any one time, and uses a structured information exchange based on the principles of natural selection and wurvival of the fittest to recombine the most desirable features of the designs over a sequence of generations until the process converges to a "maximum fitness" design. Principles of genetics are adapted into a search procedure for structural optimization. The methods consist of three genetics operations mainly named selection, cross- over and mutation. In this study, a method of finding the optimum topology of truss/beam structure is pro- posed by using the GA. In order to use GA in the optimum topology problem, chromosomes to FEM elements are assigned, and a penalty function is used to include constraints into fitness function. The results show that the GA has the potential to be an effective tool for the optimal design of structures accounting for sizing, geometrical and topological variables.variables.

  • PDF

Methylenetetrahydrofolate Reductase Gene Germ-Line C677T and A1298C SNPs are Associated with Colorectal Cancer Risk in the Turkish Population

  • Ozen, Filiz;Sen, Metin;Ozdemir, Ozturk
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제15권18호
    • /
    • pp.7731-7735
    • /
    • 2014
  • Colorectal cancer (CRC) is the third most common cause of death due to cancer in the worldwide and the incidence is also increasing in Turkey. Our present aim was to investigate any association between germ-line methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and CRC risk in Turkey. A total of 86 CRC cases and 212 control individuals of the same ethnicity were included in the current study. Peripheral blood-DNA samples were used for genotyping by StripAssay technique, based on the reverse-hybridization principle and real-time PCR methods. Results were compared in Pearson Chi-square and multiple logistic regression models. The MTHFR 677TT (homozygous) genotype was found in 20.9% and the T allele frequency 4.2-fold increased in CRC when compared with the control group.The second SNP MTHFR 1298CC (homozygous) genotype was found in 14.0% and the C allele frequency 1.4-fold elevated in the CRC group. The current data suggest strong associations between both SNPs of germ-line MTHFR 677 C>T and 1298 A>C genotypes and CRC susceptibility in the Turkish population. Now the results need to be confirmed with a larger sample size.

Lack of Association between Fingernail Selenium and Thyroid Cancer Risk: A Case-Control Study in French Polynesia

  • Ren, Yan;Kitahara, Cari Meinhold;de Gonzalez, Amy Berrington;Clero, Enora;Brindel, Pauline;Maillard, Stephane;Cote, Suzanne;Dewailly, Eric;Rachedi, Frederique;Boissin, Jean-Louis;Sebbag, Joseph;Shan, Larrys;Bost-Bezeaud, Frederique;Petitdidier, Patrick;Xhaard, Constance;Rubino, Carole;de Vathaire, Florent
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제15권13호
    • /
    • pp.5187-5194
    • /
    • 2014
  • Background: Numerous studies have suggested that selenium deficiency may be associated with an increased risk for several types of cancer, but few have focused on thyroid cancer. Materials and Methods: We examined the association between post-diagnostic fingernail selenium levels and differentiated thyroid cancer risk in a French Polynesian matched case-control study. Conditional logistic regression models were used to estimate odds ratios and 95% confidence intervals. Results: The median selenium concentration among controls was $0.76{\mu}g/g$. Significantly, we found no association between fingernail selenium levels and thyroid cancer risk after conditioning on year of birth and sex and additionally adjusting for date of birth (highest versus lowest quartile: odds-ratio=1.12, 95% confidence interval: 0.66-1.90; p-trend=0.30). After additional adjustment for other covariates, this association remained non-significant (p-trend=0.60). When restricting the analysis to thyroid cancer of 10 mm or more, selenium in nails was non-significantly positively linked to thyroid cancer risk (p-trend=0.09). Although no significant interaction was evidenced between iodine in nails and selenium in nails effect (p=0.70), a non-significant (p-trend =0.10) positive association between selenium and thyroid cancer risk was seen in patients with less than 3 ppm of iodine in nails. The highest fingernail selenium concentration in French Polynesia was in the Marquises Islands ($M=0.87{\mu}g/g$) and in the Tuamotu-Gambier Archipelago ($M=0.86{\mu}g/g$). Conclusions: Our results do not support, among individuals with sufficient levels of selenium, that greater long-term exposure to selenium may reduce thyroid cancer risk. Because these findings are based on post-diagnostic measures, studies with prediagnostic selenium are needed for corroboration.

Association between Mismatch Repair Gene MSH3 codons 1036 and 222 Polymorphisms and Sporadic Prostate Cancer in the Iranian Population

  • Jafary, Fariba;Salehi, Mansoor;Sedghi, Maryam;Nouri, Nayereh;Jafary, Farzaneh;Sadeghi, Farzaneh;Motamedi, Shima;Talebi, Maede
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제13권12호
    • /
    • pp.6055-6057
    • /
    • 2012
  • The mismatch repair system (MMR) is a post-replicative DNA repair mechanism whose defects can lead to cancer. The MSH3 protein is an essential component of the system. We postulated that MSH3 gene polymorphisms might therefore be associated with prostate cancer (PC). We studied MSH3 codon 222 and MSH3 codon 1036 polymorphisms in a group of Iranian sporadic PC patients. A total of 60 controls and 18 patients were assessed using the polymerase chain reaction and single strand conformational polymorphism. For comparing the genotype frequencies of patients and controls the chi-square test was applied. The obtained result indicated that there was significantly association between G/A genotype of MSH3 codon 222 and G/G genotype of MSH3 codon 1036 with an increased PC risk (P=0.012 and P=0.02 respectively). Our results demonstrated that MSH3 codon 222 and MSH3 codon 1036 polymorphisms may be risk factors for sporadic prostate cancer in the Iranian population.

Association of rs1219648 in FGFR2 and rs1042522 in TP53 with Premenopausal Breast Cancer in an Iranian Azeri Population

  • Saadatian, Zahra;Gharesouran, Jalal;Ghojazadeh, Morteza;Ghohari-Lasaki, Sahar;Tarkesh-Esfahani, Najime;Ardebili, Seyyed Mojtaba Mohaddes
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제15권18호
    • /
    • pp.7955-7958
    • /
    • 2014
  • Breast cancer is the most common cancer among women in the world. In Iran, the incidence of breast cancer is on the increase. We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia. We genotyped the two polymorphisms in 100 women with early onset breast cancer and 100 healthy women by PCR-RFLP. Allele frequency differences were tested using $chi^2$-test with 95% confident intervals. Our results indicated a statistically significant association (p<0.05) between rs1219648, but not rs1042522, and risk of breast cancer. We also found that the combination of FGFR2 major genotype and TP53 hetero genotype had protective effects against breast cancer, while the hetero allele of FGFR2 in combination with the minor genotype of TP53 was associated with a high risk. This study revealed an important crosstalk between two polymorphisms in FGFR2 and TP53 in development of breast cancer. These candidates risk variants should be further evaluated in studies with a larger sample size.

Plant breeding in the 21st century: Molecular breeding and high throughput phenotyping

  • Sorrells, Mark E.
    • 한국작물학회:학술대회논문집
    • /
    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
    • /
    • pp.14-14
    • /
    • 2017
  • The discipline of plant breeding is experiencing a renaissance impacting crop improvement as a result of new technologies, however fundamental questions remain for predicting the phenotype and how the environment and genetics shape it. Inexpensive DNA sequencing, genotyping, new statistical methods, high throughput phenotyping and gene-editing are revolutionizing breeding methods and strategies for improving both quantitative and qualitative traits. Genomic selection (GS) models use genome-wide markers to predict performance for both phenotyped and non-phenotyped individuals. Aerial and ground imaging systems generate data on correlated traits such as canopy temperature and normalized difference vegetative index that can be combined with genotypes in multivariate models to further increase prediction accuracy and reduce the cost of advanced trials with limited replication in time and space. Design of a GS training population is crucial to the accuracy of prediction models and can be affected by many factors including population structure and composition. Prediction models can incorporate performance over multiple environments and assess GxE effects to identify a highly predictive subset of environments. We have developed a methodology for analyzing unbalanced datasets using genome-wide marker effects to group environments and identify outlier environments. Environmental covariates can be identified using a crop model and used in a GS model to predict GxE in unobserved environments and to predict performance in climate change scenarios. These new tools and knowledge challenge the plant breeder to ask the right questions and choose the tools that are appropriate for their crop and target traits. Contemporary plant breeding requires teams of people with expertise in genetics, phenotyping and statistics to improve efficiency and increase prediction accuracy in terms of genotypes, experimental design and environment sampling.

  • PDF

Correlations of Genic Heterozygosity and Variances with Heterosis in a Pig Population Revealed by Microsatellite DNA Marker

  • Zhang, J.H.;Xiong, Y.Z.;Deng, C.Y.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제18권5호
    • /
    • pp.620-625
    • /
    • 2005
  • Correlation of microsatellite heterozygosity with performance or heterosis was reported in wild animal populations and domestic animal populations, but the correlation with heterosis in a crossbreeding F$_1$ pig population remained uncertain. To explore this, we had random selected and mated Yorkshire${\times}$Meishan (F, n = 82) and their reciprocal (G, n = 47) to F$_1$, and used the two straightbreds as control groups (Yorkshire = 34, Meishan = 55), and observed the heterosis of birth weight (BWT), average daily gain (ADG) and feed and meat ratio (FMR). Two Kinds of measurement-individual heterozygosity (IH) and individual mean d$^2$ (lg value, ID) were used as index of heterozygosity and variance from 39 microsatellite marker loci to perform univariate regression analysis against heterosis. We detected significant correlation of IH with BWT in all of F$_1$ (F+G) and in F. We observed significant correlation of ID with ADG in all of F$_1$ (F+G), and with FMR in all of F$_1$ (F+G) and in F. There was significant maternal effect on heterosis, which was indicated by significant difference of means and distribution of heterosis between F and G. This difference was consistent with distributions of IH and ID, and with difference of means in F and G. From this study, it would be suggested that the two kinds of genetic index could be used to explore the genetic basis of heterosis in crossbreeding populations but could not determine which is better.