• 제목/요약/키워드: Population genetics

검색결과 447건 처리시간 0.025초

Microsatellite Sequences of Mammals and Their Applications in Genome Analysis in Pigs - A Review

  • Behl, Rahul;Sheoran, Neelam;Behl, Jyotsna;Tantia, M.S.;Vijh, R.K.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제15권12호
    • /
    • pp.1822-1830
    • /
    • 2002
  • The microsatellites are the short tandem repeats of 1 to 6 bp long monomer sequences that are repeated several times. These short tandem repeats are considered to be generated by the slipped strand mispairing. Based on the unique capability of alternating purine-pyrimidine residues to form Z-DNA, the possible role of the microsatellites in gene regulation has been proposed. The microsatellites are highly polymorphic, follow Mendelian inheritance and are evenly distributed throughout the genomes of eukaryotes. They are easy to isolate and the polymerase chain reaction based typing of the alleles can be readily automated. These properties make them the preferred markers for comparison of the genetic structure of the closely related breeds/populations; very high-resolution genetic mapping and parentage testing etc. The microsatellites have rapidly replaced the restriction fragment length polymorphism (RFLP) and the random amplified polymorphic DNA (RAPD) in most applications in the population genetics studies in most species, including the various farm animals viz. cattle, buffalo, goat, sheep and pigs etc. More and more reports are now available describing the use of microsatellites in pigs ranging from measurement of genetic variation between breeds/populations, developing high resolution genetic maps to identifying and mapping genes of biological and economic importance.

High Frequency of Codon 12 but not Codon 13 and 61 K-ras Gene Mutations in Invasive Ductal Carcinoma of Breast in a South Indian Population

  • Sushma, C;Prasad, Shiva;Devi, Rudrama;Murthy, Sudha;Rao, TS;Naidu, CK
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제16권8호
    • /
    • pp.3505-3508
    • /
    • 2015
  • Background: Ras genes are thought to play an important role in human cancer since they have been found to be activated frequently in several types of tumors including breast cancer, where the overall incidence of K-RAS oncogene activation is 0-10%. Evaluation of K-RAS gene not only for mutational frequency but also for mutation types in this downstream signaling gene pathway is necessary to determine the mechanisms of action. The present study was conducted to test the hypothesis that K-RAS activation is involved in breast cancer risk of south Indian population. Materials and Methods: A total of 70 paired pathologically confirmed tumor and non-tumor tissues from the same breast cancer patients were analysed for most common K-RAS mutations of codon 12,13 and 61 by polymerase chain reaction followed by restriction digestion and direct nucleotide sequencing method. Results: We found that a high rate of homozygous and heterozygous mutations of codon 12, but not codon 13 and 61, may influence the invasive ductal carcinoma of breast risk in this study. Conclusions: Our study indicated that only codon 12 may be involved in initiating breast carcinogenesis in India.

한국 기업진단의 강제적 동질성(isomorphism)을 수반한 모집단학습: 삼성그룹과 현대그룹의 비교 (Population Learning with Coercive Isomorphism in the Korean Business Groups: A Comparison between the Samsung and Hyunda Group)

  • 이홍
    • 한국경영과학회지
    • /
    • 제17권1호
    • /
    • pp.87-87
    • /
    • 1992
  • The Purpose of the current study is to understand population learning with coercive isomorphism in the Korean Business Groups. Can we observe isomorphic phenomena by coercive isomorphism? Why do these happen? What mechanisms are embedded in the coercive isomorphism. To answer these questions this study focused on the two Korea's largest Chaeblos the Samsung and Hyundai. An empirical study to compared daily routines used in these two Chaeboles and contents analysis on the founders' characteristics were performed. Three major mechanisms were suggested as main processes to impact the formation of the coercive isomorpism in the two Korean Chaebols. Research implications were discussed at the end of study.

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

  • Azadegan-Dehkordi, Fatemeh;Bahrami, Tayyebe;Shirzad, Maryam;Karbasi, Gelareh;Yazdanpanahi, Nasrin;Farrokhi, Effat;Koohiyan, Mahbobeh;Tabatabaiefar, Mohammad Amin;Hashemzadeh-Chaleshtori, Morteza
    • Journal of Audiology & Otology
    • /
    • 제23권1호
    • /
    • pp.20-26
    • /
    • 2019
  • Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

  • Azadegan-Dehkordi, Fatemeh;Bahrami, Tayyebe;Shirzad, Maryam;Karbasi, Gelareh;Yazdanpanahi, Nasrin;Farrokhi, Effat;Koohiyan, Mahbobeh;Tabatabaiefar, Mohammad Amin;Hashemzadeh-Chaleshtori, Morteza
    • 대한청각학회지
    • /
    • 제23권1호
    • /
    • pp.20-26
    • /
    • 2019
  • Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

ON THE MARTINGALE EXTENSION OF LIMITING DIFFUSION IN POPULATION GENETICS

  • Choi, Won
    • Korean Journal of Mathematics
    • /
    • 제22권1호
    • /
    • pp.29-36
    • /
    • 2014
  • The limiting diffusion of special diploid model can be defined as a discrete generator for the rescaled Markov chain. Choi([2]) defined the operator of projection $S_t$ on limiting diffusion and new measure $dQ=S_tdP$. and showed the martingale property on this operator and measure. Let $P_{\rho}$ be the unique solution of the martingale problem for $\mathcal{L}_0$ starting at ${\rho}$ and ${\pi}_1,{\pi}_2,{\cdots},{\pi}_n$ the projection of $E^n$ on $x_1,x_2,{\cdots},x_n$. In this note we define $$dQ_{\rho}=S_tdP_{\rho}$$ and show that $Q_{\rho}$ solves the martingale problem for $\mathcal{L}_{\pi}$ starting at ${\rho}$.

Analysis of Microsatellite DNA Polymorphisms in Five China Native Cattle Breeds and Application to Population Genetics Studies

  • Jin, Hai-Guo;Zhao, Yu-Min;Zhou, Guo-li
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제18권12호
    • /
    • pp.1696-1700
    • /
    • 2005
  • Five China native cattle breeds have been characterized by using 10 microsatellite DNA markers. The studied populations can be divided into five groups: Luxi cattle, Nanyang cattle, Jinnan cattle, Qinchuan cattle and Yanbian cattle. Allele frequencies were calculated and used for the characterization of the breeds and the study of their genetic relationships. Heterozygosity, polymorphism information content, the effective number of alleles was calculated. Nei' standard genetic distance (1978) was calculated and used for a neighbor-joining tree construction. NJ tree showed that Luxi cattle, Nanyang cattle, Jinnan cattle and Qinchuan cattle are closely related, whereas Yanbian cattle are clearly distinct from other four populations. The genetic relationship of five breeds corresponds to their history and geographic origins. This work analyzes the recent origin of these populations and contributes to the knowledge and genetic characterization of China native breeds.

Combined Genome Mapping of RFLP-AFLP-SSR in Pepper

  • Lee, Je Min;Kim, Byung-Dong
    • Genomics & Informatics
    • /
    • 제1권2호
    • /
    • pp.108-112
    • /
    • 2003
  • We have constructed a molecular linkage map of pepper (Capsicum spp.) in an interspecific $F_2$ population of 107 plants with 320 RFLP, 136 AFLP, and 46 SSR markers. The resulting linkage map consists of 15 linkage groups covering 1,720 cM with an average map distance of 3.7 cM between framework markers. Most RFLP markers ($80\%$) were pepper-derived clones and these markers were evenly distributed all over the genome. Genes for defense and biosynthesis of carotenoids and capsaicinoids were mapped on this linkage map. By using 30 primer combinations, AFLP markers were generated in the $F_2$ population. For development of SSR markers in Capsicum, microsatellites were isolated from two small-insert genomic libraries and the GenBank database. This combined map provides a starting point for high-resolution QTL analysis, gene isolation, and molecular breeding.

Comparison of the estimated breeding value and accuracy by imputation reference Beadchip platform and scaling factor of the genomic relationship matrix in Hanwoo cattle

  • Soo Hyun, Lee;Chang Gwon, Dang;Mina, Park;Seung Soo, Lee;Young Chang, Lee;Jae Gu, Lee;Hyuk Kee, Chang;Ho Baek, Yoon;Chung-il, Cho;Sang Hong, Lee;Tae Jeong, Choi
    • 농업과학연구
    • /
    • 제49권3호
    • /
    • pp.431-440
    • /
    • 2022
  • Hanwoo cattle are a unique and historical breed in Korea that have been genetically improved and maintained by the national evaluation and selection system. The aim of this study was to provide information that can help improve the accuracy of the estimated breeding values in Hanwoo cattle by showing the difference between the imputation reference chip platforms of genomic data and the scaling factor of the genetic relationship matrix (GRM). In this study, nine sets of data were compared that consisted of 3 reference platforms each with 3 different scaling factors (-0.5, 0 and 0.5). The evaluation was performed using MTG2.0 with nine different GRMs for the same number of genotyped animals, pedigree, and phenotype data. A five multi-trait model was used for the evaluation in this study which is the same model used in the national evaluation system. Our results show that the Hanwoo custom v1 platform is the best option for all traits, providing a mean accuracy improvement by 0.1 - 0.3%. In the case of the scaling factor, regardless of the imputation chip platform, a setting of -1 resulted in a better accuracy increased by 0.5 to 1.6% compared to the other scaling factors. In conclusion, this study revealed that Hanwoo custom v1 used as the imputation reference chip platform and a scaling factor of -0.5 can improve the accuracy of the estimated breeding value in the Hanwoo population. This information could help to improve the current evaluation system.

북방전복 (Haliotis discus hannai) 의 mitochondrial DNA 영역별 유전적 변이성 분석 (Analysis of genetic divergence according to each mitochondrial DNA region of Haliotis discus hannai)

  • 박철지;남원식;이정호;노재구;김현철;박종원;황인준;김성연
    • 한국패류학회지
    • /
    • 제29권4호
    • /
    • pp.335-341
    • /
    • 2013
  • 본 연구는 우리나라의 주요양식 품종인 북방전복을 대상으로 지금까지 전복류에서는 사용되지 않았던 mtDNA의 protein coding 영역 ND2, ND5, ND4, ND4L, ND6, ND1의 6개영역과 protein noncoding 영역인 12SrRNA(ribosomal RNA) 을 포함해 총 7개 영역을 이용하여 각 영역의 유전적 변이성 및 개체간 유전적 유연관계 등을 분석하여 각 영역별 특성을 파악하고 이러한 특성을 고려하여 유전학적 분석에 적합한 분자유전마커를 개발하였다. 유전적 변이성은 ND4 영역 (Haplotype diversity = 1.000, Nucleotide diversity = 0.010823) 이 가장 높게 나타났으며, 개체간의 유전적 차이는 ND2 및 ND1 영역이 각각 90% 및 87%로 유의적으로 명확히 구분할 수 있었다. 따라서 유전적 변이성이 가장 높은 ND4 영역과 영역내의 클러스터 간의 유전적 차이가 명확한 ND2 및 ND1 영역을 복합적으로 활용할 경우 북방 전복의 집단유전학 및 계통분류학 분석에 유용한 분자유전마커로 사용할 수 있을 것이라 생각된다.