• 제목/요약/키워드: Population Genetics

검색결과 448건 처리시간 0.022초

BRCA1 and BRCA2 Common Mutations in Iranian Breast Cancer Patients: a Meta Analysis

  • Forat-Yazdi, Mohammad;Neamatzadeh, Hossein;Sheikhha, Mohammad Hasan;Zare-Shehneh, Masoud;Fattahi, Mortaza
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권3호
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    • pp.1219-1224
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    • 2015
  • Background: To date several common mutations in BRCA1 and BRCA2 associated with breast cancer have been reported in different populations. However, the common BRCA1 and BRCA2 mutations among breast cancer patients in Iran have not been described in detail. Materials and Methods: To comprehensively assess the frequency and distribution of the most common BRCA1 and BRCA2 mutations in Iranian breast cancer patients, we conducted this meta-analysis on 13 relevant published studies indentified in a literature search on PubMed and SID. Results: A total of 11 BRCA1 and BRCA2 distinct common mutations were identified, reported twice or more in the articles, of which 10 (c.2311T>C, c.3113A>G, c.4308T>C, c.4837A>G, c.2612C>T, c.3119G>A, c.3548A>G, c.5213G>A c.IVS16-92A/G, and c.IVS16-68A/G) mutations were in BRCA1, and 1 (c.4770A>G) was in BRCA2. The mutations were in exon 11, exon 13, intron 16, and exon 20 of BRCA1 and exon 11 of BRCA2. All have been previously reported in different populations. Conclusions: These meta analysis results should be helpful in understanding the possibility of any first true founder mutation of BRCA1/BRCA2 in the Iranian population. In addition, they will be of significance for diagnostic testing, genetic counseling and for epidemiological studies.

Variations in mitochondrial cytochrome b region among Ethiopian indigenous cattle populations assert Bos taurus maternal origin and historical dynamics

  • Tarekegn, Getinet Mekuriaw;Ji, Xiao-yang;Bai, Xue;Liu, Bin;Zhang, Wenguang;Birungi, Josephine;Djikeng, Appolinaire;Tesfaye, Kassahun
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권9호
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    • pp.1393-1400
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    • 2018
  • Objective: This study was carried out to assess the haplotype diversity and population dynamics in cattle populations of Ethiopia. Methods: We sequenced the complete mitochondrial cytochrome b gene of 76 animals from five indigenous and one Holstein Friesian${\times}$Barka cross bred cattle populations. Results: In the sequence analysis, 18 haplotypes were generated from 18 segregating sites and the average haplotype and nucleotide diversities were $0.7540{\pm}0.043$ and $0.0010{\pm}0.000$, respectively. The population differentiation analysis shows a weak population structure (4.55%) among the populations studied. Majority of the variation (95.45%) is observed by within populations. The overall average pair-wise distance ($F_{ST}$) was 0.049539 with the highest ($F_{ST}=0.1245$) and the lowest ($F_{ST}=0.011$) $F_{ST}$ distances observed between Boran and Abigar, and Sheko and Abigar from the indigenous cattle, respectively. The phylogenetic network analysis revealed that all the haplotypes detected clustered together with the Bos taurus cattle and converged to a haplogroup. No haplotype in Ethiopian cattle was observed clustered with the reference Bos indicus group. The mismatch distribution analysis indicates a single population expansion event among the cattle populations. Conclusion: Overall, high haplotype variability was observed among Ethiopian cattle populations and they share a common ancestor with Bos taurus.

Effects of Interactions Among Age, Cultivation Method (Location) and Population on Ginsenoside Content of Wild Panax Quinquefolium L. One Year after Transplanting from Wild

  • Lim, Wan-Sang
    • 한국약용작물학회지
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    • 제13권5호
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    • pp.254-261
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    • 2005
  • To evaluate the effects of cultivar, environment, age and cultivation times on ginsenoside content among 8 wild populations of American ginseng (Panax quinquefolium), the concentrations of 6 ginsenosides in root were determined at the time of collection (T0) of plants from the wild and 1 year after (T1) transplanting the roots to each of two different forest garden locations. Both location and population had significant effects on root and shoot growth. Overall, ginsenoside Rb1 was most abundant. The second most abundant ginsenoside were Re and Rg1, however the contents of them were not significantly different from each other. Concentrations of Rg1 and Re were inversely related. Ginsenoside Re was influenced by population and location. Ginsenoside Rg1, Rb1, Rc, Rb2 and Rd were influenced by population, location and age. Ginsenoside levels were consistently lower but growth was consistently higher at the more intensively managed garden location.

A familial case with brachydactyly type C with a GDF5 mutation

  • Yeh, Hye Ryun;Lee, Beom Hee;Kim, Ja Hye;Cho, Ja Hyang;Kim, Gu-Hwan;Kim, Jae-Min;Choi, In-Hee;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • 제11권1호
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    • pp.27-30
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    • 2014
  • Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5) gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized by brachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variability of the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics of this condition in the Korean population.

Isolation, Expression Pattern, Polymorphism and Association Analysis of Porcine TIAF1 Gene

  • Wang, Y.;Xiong, Y.Z.;Ren, Z.Q.;Zuo, B.;Lei, M.G.;Deng, C.Y.
    • Asian-Australasian Journal of Animal Sciences
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    • 제22권3호
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    • pp.313-318
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    • 2009
  • TIAF1 is a TGF-${\beta}$1-induced anti-apoptotic factor that plays a critical role in blocking TNF (tumor necrosis factor) cytotoxicity in mouse fibroblasts and participates in TGF-${\beta}$-mediated growth regulation. In this study, we obtained the full-length cDNA sequence of the porcine TIAF1 gene. Real-time PCR further revealed that the TIAF1 gene was expressed at the highest level in liver and kidney with prominent expressions detected in uterus, and lower levels detected in heart, spleen, lung, stomach, small intestine, skeletal muscle and fat of Large White pigs. Sequence analysis indicated that a 6 base-pair deletion mutation existed in the exon of the TIAF1 gene between Meishan and Large White pigs. This mutation induced deletion of Gln and Val amino acids. PCR-RFLP was used to detect the polymorphism in 394 pigs of a "Large White${\times}$Meishan" $F_{2}$ resource population and four purebred pig populations. The frequencies of the A allele (with a 6 bp deletion) were dominant in Chinese Meishan and Bamei pigs, and the frequencies of the B allele (no 6 bp deletion) were dominant in Large White and Landrace pigs. Association analyses revealed that the deletion mutation had highly significant associations (p<0.01) with meat marbling score of the thorax-waist longissimus dorsi (LD) muscle (MM1) and intramuscular fat percentage (IMF), and significant associations (p<0.05) with carcass length (CL). The results presented here supply evidence that the 6 bp deletion mutation in the TIAF1 gene affects porcine meat quality and provides useful information for further porcine breeding.

Genetic Diversity and Population Genetic Structure of Black-spotted Pond Frog (Pelophylax nigromaculatus) Distributed in South Korean River Basins

  • Park, Jun-Kyu;Yoo, Nakyung;Do, Yuno
    • Proceedings of the National Institute of Ecology of the Republic of Korea
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    • 제2권2호
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    • pp.120-128
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    • 2021
  • The objective of this study was to analyze the genotype of black-spotted pond frog (Pelophylax nigromaculatus) using seven microsatellite loci to quantify its genetic diversity and population structure throughout the spatial scale of basins of Han, Geum, Yeongsan, and Nakdong Rivers in South Korea. Genetic diversities in these four areas were compared using diversity index and inbreeding coefficient obtained from the number and frequency of alleles as well as heterozygosity. Additionally, the population structure was confirmed with population differentiation, Nei's genetic distance, multivariate analysis, and Bayesian clustering analysis. Interestingly, a negative genetic diversity pattern was observed in the Han River basin, indicating possible recent habitat disturbances or population declines. In contrast, a positive genetic diversity pattern was found for the population in the Nakdong River basin that had remained the most stable. Results of population structure suggested that populations of black-spotted pond frogs distributed in these four river basins were genetically independent. In particular, the population of the Nakdong River basin had the greatest genetic distance, indicating that it might have originated from an independent population. These results support the use of genetics in addition to designations strictly based on geographic stream areas to define the spatial scale of populations for management and conservation practices.

Microsatellite 개발 및 분석법에 대한 소개 (An Introduction to Microsatellite Development and Analysis)

  • 윤영은;유정남;이병윤;곽명해
    • 식물분류학회지
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    • 제41권4호
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    • pp.299-314
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    • 2011
  • 분자 마커의 선택은 집단유전학의 연구방법을 결정하는 중요한 고려사항으로, 현재까지 동식물의 집단유전학 연구에는 알로자임, RAPD, RFLP, AFLP, microsatellite, SNP, ISSR 등이 개발되어 주로 사용되고 있다. 이 중 microsatellite는 핵뿐만 아니라 엽록체, 미토콘드리아와 같은 세포소기관의 게놈상에 매우 풍부하게 존재하며, 핵에서 유래된 microsatellite는 높은 다형성을 보이는 공우성 마커로 집단 구조 및 유전적 다양성 연구에서 최근 선호된다. Microsatellite는 보통 1~6 bp의 짧은 서열이 반복된 것으로 각각의 유전자좌에 특화된 프라이머를 사용하여 증폭한다. Microsatellite는 PCR 반응으로 쉽게 유전자형을 분석할 수 있는 장점이 있으나, 종 특이적으로 개발되고 계통적으로 매우 가까운 근연종에게만 적용될 수 있는 단점이 있다. 따라서, 야생식물의 경우 microsatellite 개발에 필요한 게놈 정보가 부족하고 신규 개발비용이 많이 소요되어 적용이 쉽지 않았으나, 점차 개발비용이 낮아지고 있어, 야생식물을 대상으로 한 microsatellite 연구들이 증가하고 있는 추세이다. 따라서, 본 논문에서는 야생식물의 microsatellite를 이용한 분석 기초를 마련하고자 microsatellite 마커의 다양한 개발 및 분석 방법, 진화 모델 및 적용 분야에 대해 소개하고, 유전자형 결정시 잘못된 결론을 도출할 가능성이 높은 부분에 대한 사항들을 지적하여 야생식물의 microsatellite를 이용한 집단유전학적 분석에 도움을 주고자 하였다.

New polymorphic microsatellite markers in the Korean mi-iuy croaker, $Miichthys$ $miiuy$, and their application to the genetic characterization of wild and farmed populations

  • An, Hye-Suck;Kim, Eun-Mi;Lee, Jang-Wook;Kim, Dae-Jung;Kim, Yi-Cheong
    • Animal cells and systems
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    • 제16권1호
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    • pp.41-49
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    • 2012
  • Eighteen new polymorphic microsatellite markers were developed for the Korean mi-iuy croaker ($Miichthys$ $miiuy$, Perciformes, Sciaenidae), and allelic variability was compared between a wild population in Mokpo, Korea, and a hatchery population in Tongyeong, Korea. All loci were amplified readily and demonstrated allelic variability, with the number of alleles ranging from 5 to 37 in the wild population, and from 4 to 12 in the farmed population. The average observed and expected heterozygosities were estimated, respectively, to be 0.74 and 0.78 in the hatchery population samples, and 0.79 and 0.86 in the wild samples. These results indicate lower genetic variability in the hatchery population compared with the wild population, and significant genetic differentiation between the wild population and the hatchery samples ($F_{ST}$=0.058, P<0.001). These microsatellite loci may be valuable for future population genetic studies, monitoring changes in the genetic variation within stocks in a commercial breeding program, conservation genetics, and molecular assisted selective breeding of the mi-iuy croaker in the future.

EFFECT OF LONG TERM SELECTION ON GENETIC PARAMETERS OF ECONOMIC TRAITS IN WHITE LEGHORN

  • Sharma, D.;Johari, D.C.;Kataria, M.C.;Singh, B.P.;Singh, D.P.;Hazary, R.C.
    • Asian-Australasian Journal of Animal Sciences
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    • 제9권4호
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    • pp.455-459
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    • 1996
  • The genetic parameters for various economic traits were estimated in a White Leghorn population selected for part period egg production over 16 generations. In early part of selection, egg number had moderate to high heritability (0.26 to 0.51) while age at sexual maturity, egg weight and body weight at 20 and 40 weeks of age had high heritability (0.54 to 0.83). The sire component heritability for all the traits except 20 week body weight declined in later periods of selection. Sex linked gene effects for egg number and age at sexual maturity were more important in early periods of selection in comparison to the later periods, while maternal effects remained important for 20 week body weight in all the periods. Egg number was negatively correlated with egg weight ($r_{G(S)}=-0.36$), age at sexual maturity ($r_{G(S)}=-0.84$) and 40 week body weight ($r_{G(S)}=-0.84$), while it was positively correlated with 20 week body weight ($r_{G(S)}=-0.34$) in base generation. The genetic association between egg number and 40 week body weight changed not only in magnitude but also in direction in later periods. The genetic correlation of egg number with egg weight as well as with age at sexual maturity also decreased in magnitude in later periods of selection.

ASCL2 Gene Expression Analysis and Its Association with Carcass Traits in Pigs

  • Cheng, H.C.;Zhang, F.W.;Deng, C.Y.;Jiang, C.D.;Xiong, Y.Z.;Li, F.E.;Lei, M.G.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권10호
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    • pp.1485-1489
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    • 2007
  • Achaete-scute like 2 (ASCL2) gene encodes a member of the basic helix-loop-helix transcription factor which is essential for the maintenance of proliferating trophoblasts during placental development. ASCL2 gene preferentially expresses the maternal allele in the mouse. However, it escapes genomic imprinting in the human. In this study, the complete open reading frame consisting of 193 amino acids of ASCL2 gene was obtained. Sequence analysis indicated that a C-G mutation existed in the 3' region between Meishan and Large White pigs. The polymorphism was used to determine the monoallelic or biallelic expression with RT-PCR-RFLP in pigs of Large $White{\times}Meishan$ $F_1$ hybrids. Imprinting analysis indicated that the ASCL2 gene expression was biallelic in all the tested tissues (heart, liver, spleen, lung, kidney, stomach, small intestine, skeletal muscle, fat, uterus, ovary and pituitary). PCR-RFLP was used to detect the polymorphism in 270 pigs of the "$Large\;White{\times}Meishan$" $F_2$ resource population. The statistical results showed highly significant associations of the genotypes and fat meat percentage (FMP), lean meat percentage (LMP) and ratio of lean to fat (RLF) (p<0.01), and significant associations of the genotypes and loin eye area (LEA) and internal fat rate (IFR) (p<0.05).