• Title/Summary/Keyword: 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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    • v.13 no.1
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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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    • v.10 no.4
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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.

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 (자연산이 도입된 넙치 기초집단의 11개월령 성장형질에 대한 유전모수 추정)

  • Kim, Hyun-Chul;Noh, Jae-Koo;Lee, Jong-Ho;Park, Choul-Ji;Min, Byung-Hwa;Kim, Kyung-Kil;Kim, Jong-Hyun;Lee, Jung-Gyu;Myeong, Jeong-In
    • Journal of Animal Science and Technology
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    • v.53 no.2
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    • pp.99-106
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    • 2011
  • This study estimated the genetic parameters of growth-related traits from 11-month-old olive flounder (Paralichthys olivaceus) base population in which wild and cultured broodstocks were introduced. The heritability of body weight, total length, body height, body shape, and condition factor of the base population was estimated to be 0.754, 0.753, 0.789, 0.438, and 0.369, respectively. Genetic correlations between body weight and total length, between body weight and body height, and between total length and body height were 0.969, 0.960, and 0.960, respectively, showing highly positive correlation. Genetic correlations between body weight and body shape, between total length and body shape, between body height and body shape were -0.403, -0.344, and -0593, respectively, showing low negative correlation. Overall, olive flounder might be an appropriate selective breeding species with the high heritability of the traits in an 11-month-old population.

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

  • Hong, Yong-Pyo;Cho, Kyung-Jin;Kim, Yong-Yul;Shin, Eun-Myoung;Pyo, Sun-Kyung
    • Journal of Korean Society of Forest Science
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    • v.89 no.2
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    • pp.167-172
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    • 2000
  • Inter-simple sequence repeat (I-SSR) markers were analyzed from diploid genomes of 95 nutmeg trees (Torreya nucifera Siev. et Zucc.) in 5 populations. A total of 62 I-SSR amplicons were observed and 7 of them were monomorphic in 95 individuals. DNA fingerprint of each tree was verified by pooling the observed I-SSR amplicons. Most of the genetic diversity was allocated within population (90.65%) and all the populations revealed similar level of I-SSR amplicon diversity within population. Degree of population differentiation (${\phi}_{ST}=9.35%$) was moderate on the basis of criteria obtained from isozyme analysis. Based on the results of the cluster analysis of UPGMA, genetic relationships among 5 populations were not coincided with the pattern of geographic distribution. Non-significant confidence interval at each node also suggests that all the nutmeg populations are genetically not much differentiated.

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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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    • v.19 no.2
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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
    • Korean Journal of Environmental Biology
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    • v.26 no.2
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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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    • v.16 no.9
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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.