• 제목/요약/키워드: Y chromosome

검색결과 2,147건 처리시간 0.025초

염색체 이상 환자의 세포 유전학적 연구 (A Cytogenetic Study in Patients Referred for Suspected Chromosomal Abnormalities)

  • 오선경;이형환;문신용;장윤석
    • Clinical and Experimental Reproductive Medicine
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    • 제12권2호
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    • pp.39-57
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    • 1985
  • Presented in this paper the data from a chromosome study of 397 patients referred for suspected chromosmal abnormalities. Karyotypes were obtained using short-term blood culture and direct method. Of these 238 patients had normal chromosome complements; 159 (40.1%) patients had chromosome abnormality. Among all patients with chromosome abnormalities, 82.4% (131/159) had aberrations of chromosome number, the others 17.60/0 (28/159\ had aberrations of chromosome structure. Ten had a chromosome rearrangement; Five of them were reciprocal and five Robertsonian translocations. Four patients with pericentric inversions and one with paracentric inversions and four with isochromosomes were observed. There were four patients with marker chromosome, two patients had a chromosome insertion; and three others. (additional abnormal chromosomes.) Thus the results of the present study indicate the importance of cytogenetic evaluation in clinically abnormal patients.

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Generation of FISH Probes Using Laser Microbeam Microdissection and Application to Clinical Molecular Cytogenetics

  • Shim, Sung-Han;Kyhm, Jee-Hong;Chung, Sung-Ro;Kim, Seung-Ryong;Park, Moon-Il;Lee, Chul-Hoon;Cho, Youl-Hee
    • Journal of Microbiology and Biotechnology
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    • 제17권7호
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    • pp.1079-1082
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    • 2007
  • Chromosome microdissection and the reverse FISH technique is one of the most useful methods for the identification of structurally abnormal chromosomes. In particular, the laser microbeam microdissection (LMM) method allows rapid isolation of a target chromosome or a specific region of chromosomes without damage of genetic materials and contamination. Isolated chromosomes were directly amplified by the degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), and then the FISH probes labeled with spectrum green- or spectrum red-dUTP were generated by nick-translation. Whole chromosome painting (WCP) probes were successfully generated from only 5 copies of the chromosome. With this method, we produced 24 WCP probes for each human chromosome. We also tried to characterize a marker chromosome, which seemed to be originated from chromosome 11 on conventional banding technique. The marker chromosomes were isolated by the LMM method and analyzed by reverse FISH. We elucidated that the marker chromosome was originated from the short arm of chromosome 5 ($5p11{\to}pter$). A fully automated and computer-controlled LMM method is a very simple laboratory procedure, and enables rapid and precise characterization of various chromosome abnormalities.

갈겨니 (Zacco temmincki)의 進化에 관한 硏究 II: 갈겨니 2型의 核型分析

  • 이혜영;조정우;양서영
    • 한국동물학회지
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    • 제29권3호
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    • pp.208-214
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    • 1986
  • 電氣泳動法에 의해 $Mdh-1^{MM}, Mdh-1^{MS}$ en allotype으로 분류된 경상남도 남해군 동천천産 갈겨니 (Zacco temmincki)의 核型을 비교하였다. 이들 두型의 염색체수는 2n=48로 동일하지만, 7번째 염색체는 $Mdh-1^{MM}$型은 Submetacentric chromosome, $Mdh-1^{MS}$型은 metacentric chromosome으로 큰 차이를 보였다. 따라서, $Mdh-1^{MM}$型은 6쌍의 metacentric chromosome과 6쌍의 submetacentric chromosome 및 12쌍의 acrocentric chromosome으로 구성되어 있으나, $Mdh-1^{MS}$型은 7쌍의 metacentric chromosome과 5쌍의 submetacentric chromosome 및 12쌍의 acrocentric chromosome으로 구성되어 있음을 알수 있다. 이러한 sympatric한 지역에서 이들 두型의 hybrid型이 존재하지 않는 점으로 보아 이들사이에는 生殖的 隔離가 일어난 것으로 추측된다.

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자외선(UVB)에 의한 염색체이상과 Tannic acid의 방어효과 (Suppressing Effects of Tannic Acid on UVB induced Chromosome Aberrations in Chinese Hamster Lung Cells)

  • 김정현;맹승희;임철홍;안령미
    • 한국환경성돌연변이발암원학회지
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    • 제17권1호
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    • pp.17-22
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    • 1997
  • We observed the frequency of chromosome aberrations induced by UVB irradiations, and the suppressing effect of tannic acid on chromosome aberrations induced by UVB irradiations in CHL cells, which is a phenolic compound, a hydrolysate of tannin and a components of green tea. UVB doses used for the frequency of chromosome aberrations were from 0.2 to 1.6 KJ/m$^2$ and tannic acid concentrations were from 1.16 $\mu$g/ml to 37.50 $\mu$g/ml. For the observation of suppressing effect of tannic acid on UVB-induced chromosome aberrations, UVB dose was 1.6 KJ/m$^2$ and tannic acid concentrations were 1.0, 2.0, 4.0 $\mu$g/ml. In our study, tannic acid was treated for 24 hours in CHL, cells after UVB irradiation without S9 mix or for 6 hours with S9 mix. From this study, we obtained the following results : (1) The frequency of chromosome aberrations UVB induced were dose-dependently increased. (2) The tannic acid did not induce chromosome aberrations in cultured Chinese hamster cells. (3) UVB-induced chromosome aberrations were suppressed by tannic acid at every concentration from 1.0 $\mu$g/ml to 4.0 $\mu$g/ml with or without metabolic activation. These results suggest that the tannic acid acts as an inhibitor to UVB-induced clastogenicity of the cultured cell.

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벤젠 대사산물에 의해 유도된 HL-60 세포의 8번 및 21번 염색체의 이수성 및 상호전좌 (Detection of Benzene Metabolite Induced Aneuploidy and Translocation in HL-60 Cells by Fluorescence in situ Hybridization using Whole Chromosome-specific Probes for Chromosome 8 and 21)

  • 김수영;정해원
    • 한국환경성돌연변이발암원학회지
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    • 제22권2호
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    • pp.90-96
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    • 2002
  • Benzene is a widespread human carcinogen, inducing leukemia and hematotoxicity. Exposure to benzene metabolites has been shown to cause genetic damage, including aneusomy and chromosome aberrations. Fluorescence in situ hybridization(FISH) procedure was used to determine if the benzene metabolite, 1, 2, 4-benzenetriol(BT), hydroquinone(HQ) and trans, trans-muconic acid(t,t-MA) induced specific chromosomal change in HL-60 cells. Treatment with BT, HQ and t,t-MA resulted in the induction of monosomy 8 and 21 in HL-60 cells in a dose-dependent manner. All of these metabolites also induced trisomy 8 and 21, but no correlation between frequencies of trisomy and concentration was found. Translocations between chromosome 8 and another unidentified chromosome [t(8:\ulcorner)], and between chromosome 21 and another unidentified chromosome [t(8:21)] were found. However, translocation between chromosome 8 and 21 [t(8:21)] was not found. Results indicate that the benzene metabolites, BT, HQ and t,t-MA, induce chromosome specific numerical and structural aberrations, and the fluorescence in situ hybridization (FISH) approach may be a useful and powerful technique for detection of aneuploidy.

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FISH(Fluorescence in situ hybridization)를 이용하여 분석한 방사선에 의해 유발된 림프구의 염색체 이상 (Radiation induced Chromosome aberration in human Iymphocyte detected by Fluorescence in sifu hybridization)

  • 정해원;손은희;기혜성;하성환
    • 한국환경성돌연변이발암원학회지
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    • 제16권2호
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    • pp.88-96
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    • 1996
  • Fluorescence in situ hybridization (FISH) with the DNA probe for human chromosome 4 was used to analyse in vitro radiation induced chromosome rearrangement in peripheral lymphocyte. Translocations, dicentrics, acentrics and color junctions involving the painted chromosome were scored according to the Protocol for Aberration Identification and Nomenclature Terminology (PAINT) system. The frequency of chromosome rearrangements including reciprocal translocation, dicentric, acentric fragment and color junction increased with radiation dose. The frequency of dicentric chromosome reduced by the fixation time following irradiation, whereas that of translocation was relatively persistent. The applicability of FISH for scoring stable translocation for biological dosimetry was demonstrated.

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X-Chromosome Inactivation: A Complex Circuits regulated by Non-coding RNAs and Pluripotent Factors

  • Hwang, Jae Yeon;Lee, Chang-Kyu
    • Reproductive and Developmental Biology
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    • 제41권2호
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    • pp.33-40
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    • 2017
  • X-chromosome inactivation is one of the most complex events observed in early embryo developments. The epigenetic changes occurred in female X-chromosome is essential to compensate dosages of X-linked genes between males and females. Because of the relevance of the epigenetic process to the normal embryo developments and stem cell studies, X-chromosome inactivation has been focused intensively for last 10 years. Initiation and regulation of the process is managed by diverse factors. Especially, proteins and non-coding RNAs encoded in X-chromosome inactivation center, and a couple of transcription factors have been reported to regulate the event. In this review, we introduce the reported factors, and how they regulate epigenetic inactivation of X-chromosomes.

한국 무릇(Scilla scilloides Complex)의 세포유전학적 연구 III. BB 게놈의 핵형과 B염색체 조성 (Cytogenetic Studies of Scilla scilloides Complex from Korea III. Karyotype of Cytotype BB and B-Chromosome Composition)

  • 방재욱
    • Journal of Plant Biology
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    • 제36권3호
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    • pp.281-284
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    • 1993
  • A karyotype of cytotype BB plant in Scilla scilloides Complex was established and the frequency of B-chromosomes were investigated. Chromosome complements of BB genome were composed of five pairs of subtelocentric and four pairs of metacentric chromosomes. Chromosome 1 has satellite with nucleolar organizer. Polymorphism was found in chromosome 2. The karyotype of cytotype BB will be available for analysis of genome composition in various cytotypes of S. scilloides Complex. The frequency of B-chromosome was 78.6%. Numbers of B-chromosome ranged from 1 to 4 and plants with 2B-chromosomes were predominant (57.2%). Two type of B-chromosomes, F and F', were found; F is a large iso-chromosome and F' a small one.

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Fusarium 속 균종들의 염색체수 (Chromosome Number in Several Species of the Genus Fusarium)

  • 민병례
    • 미생물학회지
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    • 제29권1호
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    • pp.69-73
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    • 1991
  • The chromosome of Fusarium species during the vegetatve nuclear divisions in hyphae were observed by use of HCl-Giemsa technique on light microscope. The haploid chromosome number of Fusarium anthophilum 7472 was n=7, n=6 in F. anthophilum 7481 and n=6 in F. oxysporum 7500. The haploid chromosome number was 7 in F. napiforme 6129 and F. napiforme 6144. Those of F. caucasicum F. caucasicum ATCC 18791 and F. aquaeductuum ATCC 15612 were n=5. F. coeruleum ATCC 20088 was n=6, n=8 in F. camptoceras ATCC 16065 and n=7 in F. sambucinum NRRL 13451. From these results and previous papers, it may be concluded that the basic haploid chromosome number of the genus Fusarium is n=4.

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Construction of Chromosome-Specific BAC Libraries from the Filamentous Ascomycete Ashbya gossypii

  • Choi Sang-Dun
    • Genomics & Informatics
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    • 제4권2호
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    • pp.80-86
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    • 2006
  • It is clear that the construction of large insert DNA libraries is important for map-based gene cloning, the assembly of physical maps, and simple screening for specific genomic sequences. The bacterial artificial chromosome (BAC) system is likely to be an important tool for map-based cloning of genes since BAC libraries can be constructed simply and analyzed more efficiently than yeast artificial chromosome (YAC) libraries. BACs have significantly expanded the size of fragments from eukaryotic genomes that can be cloned in Escherichia coli as plasmid molecules. To facilitate the isolation of molecular-biologically important genes in Ashbya gossypii, we constructed Ashbya chromosome-specific BAC libraries using pBeloBAC11 and pBACwich vectors with an average insert size of 100 kb, which is equivalent to 19.8X genomic coverage. pBACwich was developed to streamline map-based cloning by providing a tool to integrate large DNA fragments into specific sites in chromosomes. These chromosome-specific libraries have provided a useful tool for the further characterization of the Ashbya genome including positional cloning and genome sequencing.