• Title/Summary/Keyword: Genetic inheritance

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RET Proto Oncogene Mutation Detection and Medullary Thyroid Carcinoma Prevention

  • Yeganeh, Marjan Zarif;Sheikholeslami, Sara;Hedayati, Mehdi
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.6
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    • pp.2107-2117
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    • 2015
  • Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

Genetic characterization and population structure of six brown layer pure lines using microsatellite markers

  • Karsli, Taki;Balcioglu, Murat Soner
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.1
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    • pp.49-57
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    • 2019
  • Objective: The first stage in both breeding and programs for the conservation of genetic resources are the identification of genetic diversity in the relevant population. The aim of the present study is to identify genetic diversity of six brown layer pure chicken lines (Rhode Island Red [RIRI, RIRII], Barred Rock [BARI, BARII], Columbian Rock [COL], and line 54 [L-54]) with microsatellite markers. Furthermore, the study aims to employ its findings to discuss the possibilities for the conservation and sustainable use of these lines that have been bred as closed populations for a long time. Methods: In the present study, a total number of 180 samples belonging to RIRI (n = 30), RIRII (n = 30), BARI (n = 30), BARII (n = 30), L-54 (n = 30), and COL (n = 30) lines were genotyped using 22 microsatellite loci. Microsatellite markers are extremely useful tools in the identification of genetic diversity since they are distributed throughout the eukaryotic genome in multitudes, demonstrate co-dominant inheritance and they feature a high rate of polymorphism and repeatability. Results: In this study, we found all loci to be polymorphic and identified the average number of alleles per locus to be in the range between 4.41 (BARI) and 5.45 (RIRI); the observed heterozygosity to be in the range between 0.31 (RIRII) and 0.50 (BARII); and $F_{IS}$ (inbreeding coefficient) values in the range between 0.16 (L-54) and 0.46 (RIRII). The $F_{IS}$ values obtained in this context points out to a deviation from Hardy-Weinberg equilibrium due to heterozygote deficiency in six different populations. The Neighbour-Joining tree, Factorial Correspondence Analysis and STRUCTURE clustering analyzes showed that six brown layer lines were separated according to their genetic origins. Conclusion: The results obtained from the study indicate a medium level of genetic diversity, high level inbreeding in chicken lines and high level genetic differentiation between chicken lines.

STUDIES ON THE GENETIC ANALYSIS AMONG BURLEY, FLUE-CURED AND SUN-CURED TYPE TOBACCO. III. GENETIC COMPONENTS IN $F_1$ GENERATION. (버어리종, 황색종, 양건종, 담배의 유전분석에 관한 연구 III. $F_1$의 유전분석)

  • 한철수;김용암;정기택;이종두;권구홍
    • Journal of the Korean Society of Tobacco Science
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    • v.9 no.1
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    • pp.45-55
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    • 1987
  • For some basic information in tobacco breeding, the modes of inheritance and heritabilities for the twelve agronomic and chemical characters were estimated in the study of eight varieties partial diallel set. Additive gene actions were significant for all characters except total nitrogen content and dominance gene effects were also significant for all characters. Yield, number of leaves per plant, leaf length and leaf shape index were inherited as partial dominance, and overdominance was detected for plant height, stem diameter, internode length, total alkaloid, total nitrogen and total sugar content. Dominant gene showed increasing effects in yield, plant height, stem diameter, internode length, leaf width and total sugar content, but showed decreasing effects in the other characters. The broad heritability was very high for all characters. and the narrow heritability was high in days to flower and yield, but low in internode length, total alkaloid, total nitrogen and total sugar content.

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Agrobacterium-mediated Transformation of the Winter Mushroom, Flammulina velutipes

  • Cho, Jung-Hee;Lee, Seung-Eun;Chang, Who-Bong;Cha, Jae-Soon
    • Mycobiology
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    • v.34 no.2
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    • pp.104-107
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    • 2006
  • Flammulina velutipes was transformed efficiently by Agrobacterium-mediated transformation system. The transformation frequency was about 16% with the gill tissues of the fungal fruiting body. Southern hybridization and genetic analysis suggest that the introduced DNA was inserted onto different locations of the fungal genome, and inherited stably to the next generation via basidiospores. Transformation or gene tagging with Agrobacterium T-DNA based vector should be useful for wide ranges of genetic or molecular biological studies of the mushroom.

Multi-omics integration strategies for animal epigenetic studies - A review

  • Kim, Do-Young;Kim, Jun-Mo
    • Animal Bioscience
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    • v.34 no.8
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    • pp.1271-1282
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    • 2021
  • Genome-wide studies provide considerable insights into the genetic background of animals; however, the inheritance of several heritable factors cannot be elucidated. Epigenetics explains these heritabilities, including those of genes influenced by environmental factors. Knowledge of the mechanisms underlying epigenetics enables understanding the processes of gene regulation through interactions with the environment. Recently developed next-generation sequencing (NGS) technologies help understand the interactional changes in epigenetic mechanisms. There are large sets of NGS data available; however, the integrative data analysis approaches still have limitations with regard to reliably interpreting the epigenetic changes. This review focuses on the epigenetic mechanisms and profiling methods and multi-omics integration methods that can provide comprehensive biological insights in animal genetic studies.

Insights into evolution and speciation in the red alga Bostrychia: 15 years of research

  • Zuccarello, Giuseppe C.;West, John A.
    • ALGAE
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    • v.26 no.1
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    • pp.21-32
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    • 2011
  • Studies of the red algal genus Bostrychia over the last 15 years have made it a model system for many evolutionary processes within red algal species. The combination of newly developed, or first employed methods, in red algal species studies has made Bostrychia a pioneer genus in intraspecific studies. Bostrychia was the first genus in which a mitochondrial marker was used for intraspecific red algal phylogeny, and the first for which a 3-genome phylogeny was undertaken. The genus was the first red alga used to genetically show maternal plastid and mitochondria inheritance, and also to show correlation between cryptic species (genetically divergent intraspecific lineages) and reproductive incompatibility. The chemotaxonomic use, and physiological function of osmolytes, has also been extensively studied in Bostrychia. Our continuous studies of Bostrychia also highlight important aspects in algal species studies. Our worldwide sampling, and resampling in certain areas, show that intensive sampling is needed to accurately assess the genetic diversity and therefore phylogeographic history of algal species, with increased sampling altering evolutionary hypotheses. Our studies have also shown that long-term morphological character stability (stasis) and character convergence can only be correctly assessed with wide geographic sampling of morphological species. While reproductive incompatibility of divergent lineages supports the biological species nature of these lineages, reproductive incompatibility is also seen between isolates with little genetic divergence. It seems that reproductive incompatibility may evolve quickly in red algae and the unique early stages of fertilization (e.g., gametes covered by walls, active movement of spermatium nuclei to the distant egg nucleus), also well investigated in Bostrychia,. may be key to our understanding of this process.

Complex Segregation Analysis of Total Milk Yield in Churra Dairy Ewes

  • Ilahi, Houcine;Othmane, M. Houcine
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.3
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    • pp.330-335
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    • 2011
  • The mode of inheritance of total milk yield and its genetic parameters were investigated in Churra dairy sheep through segregation analyses using a Monte Carlo Markov Chains (MCMC) method. Data which consisted of 7,126 lactations belonging to 5,154 ewes were collected between 1999 and 2002 from 15 Spanish Churra dairy flocks. A postulated major gene was assumed to be additive and priors used for variance components were uniform. Based on 50 000 Gibbs samples from ten replicates chains of 100,000 cycles, the estimated marginal posterior means${\pm}$posterior standard deviations of variance components of milk yield were $23.17{\pm}18.42$, $65.20{\pm}25.05$, $120.40{\pm}42.12$ and $420.83{\pm}40.26$ for major gene variance ($\sigma_G^2$), polygenic variance ($\sigma_u^2$), permanent environmental variance ($\sigma_{pe}^2$) and error variance ($\sigma_e^2$), respectively. The results of this study showed the postulated major locus was not significant, and the 95% highest posterior density regions ($HPDs_{95%}$) of most major gene parameters included 0, and particularly for the major gene variance. The estimated transmission probabilities for the 95% highest posterior density regions ($HPDs_{95%}$) were overlapped. These results indicated that segregation of a major gene was unlikely and that the mode of inheritance of total milk yield in Churra dairy sheep is purely polygenic. Based on 50,000 Gibbs samples from ten replicates chains of 100,000 cycles, the estimated polygenic heritability and repeatability were $h^2=0.20{\pm}0.05$ and r=$0.34{\pm}0.06$, respectively.

Familial Hemifacial Spasm - Case Report - (가족성 편측안면경련 - 증 례 보 고 -)

  • Chung, Seung Young;Rhee, Bong Arm;Lim, Young Jin;Kim, Tae Sung;Kim, Gook Ki;Leem, Won
    • Journal of Korean Neurosurgical Society
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    • v.30 no.sup2
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    • pp.352-355
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    • 2001
  • The authors report two cases of familial hemifacial spasm according to the clinical and three dimensional shortrange magnetic resonance angiography(3D-SRMRA) findings. In the family of the first case, there were five patient's with acquired hemifacial spasm in successive generations. Three male and two female patients in successive generations of the same family developed acquired hemifacial spasm. Four patients were on the left side and one was on the right side. In the family of the second case, there were three patient's with acquired hemifacial spasm in successive generations. Two brothers developed left-sided hemifacial spasm. 3D-SRMRA finding of the probands demonstrated that both anterior inferior cerebellar artery in first case and anterior inferior cerebellar artery & vertebral artery in second case offend the 7th cranial nerve respectively. The presence of familial clustering of these rare disorders suggest an underlying genetic predisposition. All family pedigrees suggest that a pattern of autosomal-dominant inheritance with partial penetrance.

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Inheritance between Le Gene and Ti Gene in Soybean (Glycine max L.)

  • Lee, Kyoung Ja;Park, Mo Se;Sung, Mi Kyung;Kim, Myung Sik;Chung, Jong Il
    • Korean Journal of Breeding Science
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    • v.40 no.2
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    • pp.97-100
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    • 2008
  • Lectin protein and Kunitz trypsin inhibitor (KTI) protein of mature soybean seed are a main antinutritional factor in soybean seed. The Le gene controls a lectin protein and Ti gene controls the KTI protein in soybean. Ti locus has been located on linkage group 9 in the classical linkage map of soybean. Position of Le locus on linkage map was not identified. Genetic relationship between Ti locus and Le locus could be useful in soybean breeding program for the genetic elimination of these factors. The objective of this study was to determine the independent inheritance or linkage between Ti locus and Le locus in soybean seed. Two $F_2$ populations were developed from three parents (Gaechuck#1, T102, and PI548415). The $F_1$ seeds from Gaechuck#1 (titiLeLe) ${\times}$ T102 (TiTilele) and Gaechuck#1 (titiLeLe) ${\times}$ PI548415 (TiTilele) were obtained. The lectin and KTI protein were analysed from $F_2$ seeds harvested from the $F_1$ plants to find independent assortment or linkage between Ti locus and Le locus. The segregation ratios of 3 : 1 for Le locus (129 Le_ : 44 lele) and Ti locus (132 Ti_ : 41 titi) and were observed. The segregation ratios of 9 : 3 : 3 : 1 (95 Le_Li_ : 34 Le_titi: 37 leleTi_ : 7 leletiti) between Le gene and Ti gene in $F_2$ seeds were observed. This data showed that Ti gene was inherited independently with the Le gene in soybean. These results will be helpful in breeding program for selecting the line with lacking both KTI and lectin protein in soybean.

The Inheritance of Jumping Activity in Reciprocal Cross of Two Subspecies of Mice

  • Kurnianto, E.;Shinjo, A.;Suga, D.
    • Asian-Australasian Journal of Animal Sciences
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    • v.13 no.6
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    • pp.733-738
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    • 2000
  • The objective of this study was to describe the nature of the inheritance of jumping as a behavioral trait and to analyze quantitatively the jumping height as a measure of vigor in two subspecies of mice. Two subspecies of mice, Yonakuni wild mouse (Y) and $CF_{{\sharp}1}$ laboratory mouse (C), were used as the parental types. Reciprocal mating between these two subspecies was made to produce subsequently the first and second generations. The first generation was $F_1$ (YC) resulting from $Y\;male{\times}C\;female$, and $F_1{^\prime}$ (CY) from $C\;male{\times}Y\;female$. The second generation $F_2$ (YCYC) was from mating $F_1{\times}F_1$ and $F_2{^\prime}$ (CYCY) from $F_1{^\prime}{\times}F_1{^\prime}$. Individuals were treated with a set of direct current shock apparatus at six weeks of age to evoke jumping. The results showed that the ratio between jumping and non jumping mice (J: NJ) for C was 0%:100% (0:1), which means that all C did not jump throughout the experiment, whereas Y was 68%:32% (2:1); and the $F_1$ and $F_2$ showed 65%:35% (2:1) and 51%:49% (1:1), respectively. All $F_1{^\prime}$ and $F_2{^\prime}$ individuals jumped as indicated by the ratio 100%:0% (1:0) for both these two genetic groups. Of the jumped mice, average height of the first three jumping observed for pooled sexes in Y, $F_1$, $F_2$, $F_1{^\prime}$ and $F_2{^\prime}$ were 19.3 cm, 19.3 cm, 18.0 cm, 19.9 cm and 16.4 cm, respectively. The distribution of jumping height showed a tendency to be a normal distribution. The jumping activity and jumping height may be affected by some major genes and polygenes, respectively.