• 제목/요약/키워드: population genetics

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Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women

  • Kang, Kyung Min;Sung, Se Ra;Park, Ji Eun;Shin, Yun Jeong;Park, Sang Hee;Chin, Mi Uk;Lyu, Sang Woo;Cha, Dong Hyun;Shim, Sung Han
    • Journal of Genetic Medicine
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    • 제13권1호
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    • pp.14-19
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    • 2016
  • Purpose: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. Materials and Methods: The CGG repeats in the FMR1 genes of 1,408 women were analyzed by polymerase chain reaction and Southern blot analysis. To estimate the prevalence of expansion alleles, the individuals were divided into low risk and high risk group. Results: Within this population, 98.4% had normal alleles and 1.6% had abnormal alleles including intermediate (0.6%), premutation (0.5%), full mutation (0.1%), and hemizygous (0.4%) alleles. There were 2 premutation alleles (1:666, 95% confidence interval [CI] 1:250-1,776) in the low risk group and 5 premutation alleles (1:15, 95% 1:6-36) in the high risk group. There were 8 intermediate alleles (1:167, 95% CI 1:130-213) in the low risk group and 1 intermediate alleles (1:76, 95% CI 1:11-533) in the high group. Six of the 7 premutation alleles did not contain AGG interruptions within the repeats and 1 had a single AGG interruption. Four of the 9 intermediate alleles contained 2-3 AGG, 4 had a single AGG, and 1 had no AGG interruptions. Conclusion: Our study demonstrates the prevalence and CGG/AGG structure of expansion alleles in Korean women. The identified premutation prevalence is higher than that of other Asian populations and lower than that of Caucasian populations. Although our study is limited by size and population bias, our findings could prove useful for genetic counseling of preconceptional or pregnant women.

Effect of Imported Young Bulls with Higher Genetic Merit on Genetic Progress of Japanese Holstein Population

  • Terawaki, Y.;Shimizu, H.;Fukui, Y.
    • Asian-Australasian Journal of Animal Sciences
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    • 제10권4호
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    • pp.416-421
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    • 1997
  • The effect of imported young bulls on the genetic progress was examined in the Holstein dairy cattle population in Japan. The effect of the difference of mean genetic merit between imported and domestic young bulls ("genetic difference") was recognized on the genetic progress of the domestic animals in the early stage of selection. On the other hand, the genetic progress of domestic animals were remarkably influenced by the genetic trend of imported young bulls ("genetic trend") in the later stage. Import of young bulls originated from high genetic level of young bulls originated from high genetic level population improved the genetic progress of domestic population. But, the increase of the immigration ratio of imported young bulls ("immigration ratio") did not influence linearly on the progress of the genetic merit of domestic animals. Even if "immigration ratio" was 100%, the genetic merit of domestic animals could not overcome the one of imported young bulls. In the later stage of selection, the genetic merit of domestic animals ran parallel to those of imported young bulls.

자연산이 도입된 넙치 기초집단의 11개월령 성장형질에 대한 유전모수 추정 (Estimation of Genetic Parameters of Growth-related Traits from 11-month-old Olive Flounder (Paralichthys olivaceus) Base Population in which Wild Flounder Broodstocks were Introduced)

  • 김현철;노재구;이정호;박철지;민병화;김경길;김종현;이정규;명정인
    • Journal of Animal Science and Technology
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    • 제53권2호
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    • pp.99-106
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    • 2011
  • 본 연구는 넙치의 선발 육종을 위한 유전적 다양성이 확보된 기초집단을 만들기 위해 2005년에 수집한 자연산과 양식산 친어를 이용하여 생산된 기초집단의 부화 후 11개월령 체중, 전장, 체고, 체형지수 및 비만도 측정치의 유전력 및 이들 형질간의 유전상관과 표현형상관을 추정하였다. 넙치 기초집단의 부화 후 11개월령 체중, 전장, 체고, 체형지수 및 비만도의 유전력은 각각 0.754, 0.753, 0.789, 0.438, 0.369로 추정되었으며, 체중과 전장, 체고, 체형지수 및 비만도간의 유전상관은 각각 0.969, 0.960, -0.403, 0.623으로 추정되었고, 전장과 체고, 체형지수 및 비만도간의 유전상관을 각각 0.960, -0.344, 0.469로 추정되었으며, 체형지수와 비만도간의 유전상관은 -0.726으로 추정되었다. 자연산이 도입된 넙치 기초집단의 부화 후 11개월령 넙치의 체중, 전장, 체고 등 성장형질의 유전력은 대체적으로 높게 추정되어 개체선발을 통한 개량이 가능할 것으로 나타났으며, 체중, 전장, 체고 등의 성장형질과 체형지수간의 유전상관 및 표현형 상관은 낮은 부의 상관관계를 보여 넙치 성장도 향상과 체형개선을 목적으로한 선발육종을 위해서는 체중과 체형지수에 가중치를 부여한 선발지수를 이용하는 것이 바람직할 것으로 보인다.

비자나무 집단(集團)에서의 I-SSR 변이체(變異體)의 다양성(多樣性) (Diversity of I-SSR Variants in the Populations of Torreya nucifera)

  • 홍용표;조경진;김용률;신은명;표선경
    • 한국산림과학회지
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    • 제89권2호
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    • pp.167-172
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    • 2000
  • 국내 5개 지역에서 채집한 비자나무(Torreya nucifera Siev. et Zucc.) 95개체를 대상으로 I-SSR 표지자를 분석하였다. 총 62개의 I-SSR 증폭산물(增幅産物)이 관찰되었으며, 그 중 7개의 증폭산물(增幅産物)은 분석된 95개 개체에서 단형성(單形性)이었다. 관찰된 전체 I-SSR 증폭산물(增幅産物)을 통합(統合)하여 분석한 결과 개체목에 대한 DNA지방판별(指放判別)이 가능하였다. 대부분의 유전다양성(遺傳多樣性)이 임분(林分)내의 개체목 간에 존재하는 것으로 나타났고(90.65%), 전체 5개 임분(林分)에서 유사한 수준의 유전다양성(遺傳多樣性)을 보였다. 집단간의 유전적(遺傳的) 분화(分化)정도는 심하지 않았다(${\phi}_{ST}=9.35%$). UPGMA법에 의한 유집분석(類集分析) 결과 각 집단의 유전적(遺傳的) 유연관계(類緣關係)는 임분(林分)의 지리적(地理的) 분포양상(分布樣相)과 일치(一致)하지 않았으며, 각 교점(交點)의 형성(形成)에 있어서 통계적 유의성이 없었고 따라서 전체 집단들이 유전적(遺傳的)으로 크게 분화(分化)되지 않았음을 알 수 있었다.

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Assessment of Genetic Diversity in Different Populations of Raily Ecorace of Indian Tasar Silkworm, Antheraea Mylitta Drury Using ISSR Markers

  • Srivastava, Ashok Kumar;Kar, Prasanta Kumar;Sinha, Ravibhushan;Sinha, Manoj Kumar;Vijayaprakash, Nanjappa Basavappa
    • International Journal of Industrial Entomology and Biomaterials
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    • 제19권2호
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    • pp.249-253
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    • 2009
  • Raily ecorace of Indian tasar silkworm is wild in nature and distributed abundantly in dense deciduous forest on Shorea robusta (Sal) in Bastar ($17^{\circ}4'$ and $20^{\circ}34'$ N, $80^{\circ}15'$ and $82^{\circ}15'$ E and altitude ranging from 150 to 1200 mMSL) forest ranges of Chhattisgarh, India. It is represented by about 20 populations. Out of those, eleven populations showed intra- as well as inter- population variability based on phenotypic expression and also in major economic traits viz. cocoon weight, shell weight, filament length and denier. Genetic diversity in these eleven populations was studied using Inter-Simple Sequence Repeat (ISSR) markers. The band profiles generated with eight ISSR primers have depicted variation in band size. All the primers exhibited polymorphism which is an indicative of the genetic variation in individual Raily silkworm. Among the populations, total polymorphism recorded was 76%. The population genetic aspects assessed through POPGENE software package are discussed in the paper. Nei's gene diversity (h) ranged from 0.194 to 0.337 exhibiting high heterozygosity. Relevance of the present study is of high significance in formulating conservation strategies and sustainable utilization of the economically important Raily ecorace of Antheraea mylitta.

The Cytotoxic Action of New Ag-Porphyrin as a Potential Chemotherapeutic Agent

  • Nelli, Babayan;Artak, Tovmasyan;Ani, Gevorkyan;Gennadi, Gasparyan;Rouben, Aroutiounian
    • 환경생물
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    • 제26권2호
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    • pp.115-120
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    • 2008
  • Earlier we have described new water-soluble Ag- and Zn-derivatives of tetrachloride meso-tetra (4-N-oxiethylpyridyl) porphyrin (TOEtPyP) as potential anticancer drugs. In this work the effect of one of these metal porphyrins, TOEtPyP Ag, on the cell population kinetics was studied in vitro using morphological and biochemical techniques. The results suggested that TOEtPyP Ag action consisted in the simultaneous suppression of the cell growth and activation of the cell death. About 40% of the cells were shown to die via apoptotic pathway. So, the porphyrin studied may be attributed to inducers of both necrotic and apoptotic processes. The results obtained support our previous assertion that TOEtPyP Ag may be considered as a potential chemotherapeutic agent.

Consanguinity Protecting Effect Against Breast Cancer among Tunisian Women: Analysis of BRCA1 Haplotypes

  • Medimegh, Imen;Troudi, Wafa;Omrane, Ines;Ayari, Hajer;Uhrhummer, Nancy;Majoul, Hamdi;Benayed, Farhat;Mezlini, Amel;Bignon, Yves-Jean;Sibille, Catherine;Elgaaied, Amel Benammar
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권9호
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    • pp.4051-4055
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    • 2015
  • The purpose of this study is to assess the effect of consanguinity on breast cancer incidence in Tunisia. We conducted a case-control study to evaluate the involvement of heterozygote and homozygote haplotypes of BRCA1 gene SNPs according to consanguinity among 40 cases of familial breast cancer, 46 cases with sporadic breast cancer and 34 healthy controls. We showed significant difference in consanguinity rate between breast cancer patients versus healthy controls P=0.001. Distribution of homozygous BRCA1 haplotypes among healthy women versus breast cancer patients was significantly different; p=0.02. Parental consanguinity seems to protect against breast cancer in the Tunisian population.