• 제목/요약/키워드: Chromosomal study

검색결과 468건 처리시간 0.029초

Reanalysis of Ohno's hypothesis on conservation of the size of the X chromosome in mammals

  • Kim, Hyeongmin;Lee, Taeheon;Sung, Samsun;Lee, Changkyu;Kim, Heebal
    • Animal cells and systems
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    • 제16권6호
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    • pp.438-446
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    • 2012
  • In 1964, Susumu Ohno, an evolutionary biologist, hypothesized that the size of X chromosome was conserved in mammalian evolution, and that this was based on chromosomal length. Today, unlike Ohno's method which was based on estimated lengths, we know the exact lengths of some mammalian sequences. The aim of this study was to reanalyze Ohno's hypothesis. In mammalian species, variation in the length of the X chromosome is greater than in the autosomes; however, this variation is not statistically significant. This means that differences in chromosomal length occur equally in the X chromosome and in the autosomes. Interspersed nuclear elements and genetic rearrangements were analyzed to maintain the same variance between the length of the X chromosome and the autosomes. The X chromosome contained fewer short interspersed elements (SINEs) (0.90 on average); however, it did contain more long interspersed elements (LINEs) than did autosomes (1.56 on average). An overall correlation of LINEs and SINEs with genetic rearrangements was observed; however, synteny breaks were more closely associated with LINEs in the autosomes, and with SINEs in the X chromosome. These results suggest that the chromosome-specific activities of LINEs and SINEs result in the same variance between the lengths of the X chromosome and the autosomes. This is based on the function of interspersed nuclear elements, such as LINEs, which can inactivate the X chromosome and the reliance of non-autonomous SINEs on LINEs for transposition.

도입된 잉어과 어류 3종의 외부형태 및 염색체 특징 (Morphological and Chromosomal Charateristics of the Three Introduced Cyprinid Species (Cyprinidae))

  • 김성원;최낙중;이종윤;이완옥;장선일
    • 한국어류학회지
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    • 제8권2호
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    • pp.68-73
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    • 1996
  • 중국원산으로 한국에 도입된 초어(grass carp, Ctenopharyngodon idellua), 대두어(bighead carp, Aristichthys nobilis) 및 백련어(Silverer carp, Hypophthalmichthys molitrix)의 외부형태 및 염색체 특징에 대한 기본 정보를 얻기 위하여 본 연구를 하였다. 초어는 새파, 체측비늘, 지느러미들의 기조수와 계측치에서 대두어 및 백련어와 차이를 보였다. 대두어와 백련어는 복부에 용골과 외부 형태 등에서 유사했으나, 새파와 체측의 반문에서 쉽게 구분되었다. 그러나 염색체 수는 2n=48, arm number (fundamental number, NF)는 84로 모두 동일하였다. 연구된 3종의 염색체는 모두 metacentric chromosome이 10쌍, submetacentric chromosome이 8쌍, acrocentric 또는 telocentric chromosome이 6쌍으로 구성되어 있었다. 그리고 외부형태 형질, 국명 및 핵형의 유연관계에 대해서 논의하였다.

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정자 직접 주입법 (ICSI) 이후에 수정에 실패한 인간 난자에 대한 염색체 분석 (Chromosomal Analysis of the Human Oocytes Failed to Fertilize following Intracytoplasmic Sperm Injection (ICSI))

  • 손원영;박성은;정형민;엄기붕;고정재;윤태기;차광열
    • Clinical and Experimental Reproductive Medicine
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    • 제24권3호
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    • pp.319-324
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    • 1997
  • Despite the direct placement of sperm within the oocyte, fertilization failure still occurs after ICSI. This study was accomplished to analyze the chromosomes in oocytes failed to fertilize after ICSI comparing to oocytes failed to fertilize by conventional in vitro insemination. Seventy-four ICSI cycles and 122 conventional IVF cycles were included in analysis. Included unfertilized oocytes were from 74 patients (mean age = $32.7{\pm}3.7$). Ninety-three oocytes were informative and 83 oocytes were legible for cytogenetic analysis. Sixty-two oocytes out of 83 (74.7%) had normal chroruosomes, while 15 (18.1%) were hypoploidy, 6 (7.2%) were hyperploidy. Eighteen oocytes out of 93 (17.6%) were premature chromosome condensation (PCC). Two hundred ninety-four unfertilized oocytes after conventional insemination were subjected to chromosomal analysis and 180 oocytes were legible for analysis. One hundred thirty-two oocytes out of 180 (73.3%) were normal, while 22 (12.2%) were hypoploidy, 20 (11.1%) were hyperploidy, and 6 (3.3%) were polyploidy. Twenty-two oocytes (12.2%) were PCC. There was no difference in chromosomes between oocytes that failed to fertilize after ICSI or conventional insemination. High PCC rates in fertilization-failed oocytes suggest that oocytes maturity is another important factor in achieving successful fertilization.

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Genotoxicity Studies on Carrageenan: Short-term In Vitro Assays

  • Chung, Young-Shin;Eum, Ki-Hwan;Choi, Seon-A;Oh, Se-Wook;Park, Sue-Nie;Yum, Young-Na;Kim, Joo-Hwan;Seo, Young-Rok;Lee, Michael
    • Toxicological Research
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    • 제25권1호
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    • pp.51-58
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    • 2009
  • Carrageenan is a naturally-occurring sulfated polygalactan which has been widely used in the dairy industry and a gelling agent in non-dairy products. In this study, four short-term in vitro genotoxicity assays were investigated to evaluate the potential genotoxic effects of carrageenan. The mutagenicity of carrageenan was evaluated up to a maximum dose of 5 mg/plate in Ames test. There was no increase in the number of revertant colonies compared to its negative control at any dose in all of strains tested. To assess clastogenic effect, the in vitro chromosomal aberration assay was performed using Chinese hamster lung cells. Carrageenan was not considered to be clastogenic in this assay at up to the highest feasible concentration which could be evaluated. The in vitro comet assay and micronucleus test results obtained on L5178Y cells also revealed that carrageenan has no genotoxicity potential, although there was a marginal increase in micronuclei frequencies and DNA damage in the respective micronucleus and comet assays. Taken together, our results indicate that carrageenan was not genotoxic based on four in vitro genotoxicity results.

PLK2 Single Nucleotide Variant in Gastric Cancer Patients Affects miR-23b-5p Binding

  • Dominkus, Pia Puzar;Mesic, Aner;Hudler, Petra
    • Journal of Gastric Cancer
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    • 제22권4호
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    • pp.348-368
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    • 2022
  • Purpose: Chromosomal instability is a hallmark of gastric cancer (GC). It can be driven by single nucleotide variants (SNVs) in cell cycle genes. We investigated the associations between SNVs in candidate genes, PLK2, PLK3, and ATM, and GC risk and clinicopathological features. Materials and Methods: The genotyping study included 542 patients with GC and healthy controls. Generalized linear models were used for the risk and clinicopathological association analyses. Survival analysis was performed using the Kaplan-Meier method. The binding of candidate miRs was analyzed using a luciferase reporter assay. Results: The PLK2 Crs15009-Crs963615 haplotype was under-represented in the GC group compared to that in the control group (Pcorr=0.050). Male patients with the PLK2 rs963615 CT genotype had a lower risk of GC, whereas female patients had a higher risk (P=0.023; P=0.026). The PLK2 rs963615 CT genotype was associated with the absence of vascular invasion (P=0.012). The PLK3 rs12404160 AA genotype was associated with a higher risk of GC in the male population (P=0.015). The ATM Trs228589-Ars189037-Grs4585 haplotype was associated with a higher risk of GC (P<0.001). The ATM rs228589, rs189037, and rs4585 genotypes TA+AA, AG+GG, and TG+GG were associated with the absence of perineural invasion (P=0.034). In vitro analysis showed that the cancer-associated miR-23b-5p mimic specifically bound to the PLK2 rs15009 G allele (P=0.0097). Moreover, low miR-23b expression predicted longer 10-year survival (P=0.0066) in patients with GC. Conclusions: PLK2, PLK3, and ATM SNVs could potentially be helpful for the prediction of GC risk and clinicopathological features. PLK2 rs15009 affects the binding of miR-23b-5p. MiR-23b-5p expression status could serve as a prognostic marker for survival in patients with GC.

Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm

  • Yunsun Song;Jong-Keuk Lee;Jin-Ok Lee;Boseong Kwon;Eul-Ju Seo;Dae Chul Suh
    • Korean Journal of Radiology
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    • 제23권1호
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    • pp.101-111
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    • 2022
  • Objective: Familial intracranial aneurysms (FIAs) are found in approximately 6%-20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of this study was to identify possible IA-associated variants using whole exome sequencing (WES) in selected Korean families with FIA. Materials and Methods: Among the 26 families in our institutional database with two or more IA-affected first-degree relatives, three families that were genetically enriched (multiple, early onset, or common site involvement within the families) for IA were selected for WES. Filtering strategies, including a family-based approach and knowledge-based prioritization, were applied to derive possible IA-associated variants from the families. A chromosomal microarray was performed to detect relatively large chromosomal abnormalities. Results: Thirteen individuals from the three families were sequenced, of whom seven had IAs. We noted three rare, potentially deleterious variants (PLOD3 c.1315G>A, NTM c.968C>T, and CHST14 c.58C>T), which are the most promising candidates among the 11 potential IA-associated variants considering gene-phenotype relationships, gene function, co-segregation, and variant pathogenicity. Microarray analysis did not reveal any significant copy number variants in the families. Conclusion: Using WES, we found that rare, potentially deleterious variants in PLOD3, NTM, and CHST14 genes are likely responsible for the subsets of FIAs in a cohort of Korean families.

건강보험환자와 의료급여환자의 상급종합병원 입원이용 비교 (Utilization Patterns of National Health Insurance and Medical Aid Inpatients in Tertiary Hospitals)

  • 박영희
    • 보건의료산업학회지
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    • 제6권4호
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    • pp.83-98
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    • 2012
  • The objective of this study is to analyze the utilization patterns of national health insurance and medical aid inpatients in tertiary hospitals. For the analysis, the study utilize the nationwide data on '2010 Survey of Patients' of Ministry of Health & Welfare. The statistical methodology used in the study is the logistic regression model. This study has three major findings. First, utilization rate of national health insurance inpatients was higher than medical aid inpatients in tertiary hospitals. Second, the significant affecting demographic factors in utilizing tertiary hospitals were sex, age, surgery case, treatment result, inpatients residence region and short length of stay. Third, compared to other disease groups, the inpatients on 'congenital malformation, deformity and chromosomal abnormalities', 'factors influencing health status and contact with health services' and 'neoplasm' groups are more likely to utilize tertiary hospitals. Finally, according to residence region, Seoul residence inpatients in both of national health insurance and medical aid more likely to utilize tertiary hospitals than other region inpatients.

Haploidy of somatic cells in mouse oocyte using somatic cell nuclear transfer

  • Yeonmi Lee;Eunju Kang
    • 한국동물생명공학회지
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    • 제37권4호
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    • pp.213-217
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    • 2022
  • Haploidization in somatic cells is the process of reducing the diploid somatic chromosomes to haploid. Several studies have attempted somatic haploidization using oocytes in mice and humans. Some researchers showed partial somatic haploidization, but none observed embryo development. Our study attempted somatic haploidization using the modified somatic nuclear transfer (SCNT) protocol with various combinations of chemicals or proteins in mice. This study induced the proper segregation of somatic homologous chromosomes and full embryo development in vitro. Furthermore, somatic haploid embryos established embryonic stem cells and produced live births. The current review summarizes this recent study on the success of somatic haploidization and provides an overview of other related studies on somatic haploidization.

RECLINICAL TOXICITY STUDY OF A NEW PHOSPHODIESTERASE-5 INHIBITOR (I) ACUTE TOXICITY STUDY AND MUTAGENICITY

  • Kim, Dong-Hwan;Hyeon Cho;Kang, Kyung-Koo;Ahn, Byoung-Ok;Kim, Won-Bae
    • 한국독성학회:학술대회논문집
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    • 한국독성학회 2001년도 International Symposium on Signal transduction in Toxicology
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    • pp.127-127
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    • 2001
  • Single-dose toxicity of a new phosphodiesterse inhibitor-5, DA -8159, was studied in rats via oral and intravenous routes and in mice via oral route. In addition, genotoxic potential of DA-8159 was investigated by using of the battery of test; reverse mutation test on bacteria, chromosomal aberration test on cultured mammalian cells and micronucleous test on mice.(omitted)

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자주달개비 미세핵 분석법을 이용한 청주공단주변 토양침출수의 유전독성 평가 (Study on the genotoxicity of soi1 leachate from two polluted sites in Cheongju with Tradescantia-micronuclus assay)

  • 김진규;이병헌;신해식;이진홍
    • 한국환경생물학회:학술대회논문집
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    • 한국환경생물학회 2002년도 학술대회
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    • pp.119-122
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    • 2002
  • Soil contaminants are common in industrialized sites, They can affect directly soil and indirectly ground water and food. Soil mutagens and carcinogens are of great interest due to their potentially hazardous effects on human health. The aim of this study was to monitor the genotoxicity of contaminated soils, Soil leachates were collected from two polluted sites and one control site in Cheongju. Tradescantia BNL 4430 clone was used as experimental matierials. Chromosomal damages induced by soil leachates were detected by the Tradescantia-micronucleus assay. It is known from the result that Tradescantia-micronucleus assay is an excellent botanical tool for detection of biological risk due to environmental toxicants.

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