• Title/Summary/Keyword: 염색체 재배열

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Rearrangement of $Km^{r}$ Gene and Plasmid by Conjugal Transfer in aquatic Environments (수계에서 접합에 의하여 전이된 $Km^{r}$ 유전자 및 Plasmid 의 재배열)

  • 이성기;김치경
    • Korean Journal of Microbiology
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    • v.31 no.4
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    • pp.286-291
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    • 1993
  • The $Km^{r}$ gene and plasmid of natural isolate and genetically modified microorganisms (GMM) rearranged by conjugation in water environments were comparatively analyzed by agarose gel electrophoresis and Southern analysis. The transfer rates of the $Km^{r}$ gene from GMM strains were generally 100 times higher than thosc of natural iso]ate(DKI) under laboratory cnvironments, but their transfer rate was not much different in Moosimcheon River water. The conjugants obtained in LB(Luria-Bertani broth) and FW(filtered river water) water under laboratory conditions showed same number of the plasmids. but the sizes of the plasmids were changed. The $Km^{r}$ gene in the conjugants was found in the same position as the pDKJO] $Km^{r}$ plasmid. In case of the GMM strains as donor. the large plasmids of 180 kb appeared in conjugants obtained in LB and FW water. Especially, the $Km^{r}$ gene in the donor of DKC600 was found to be inserted into chromosome of the conjugant obtained in FW water. However. in the conjugants obtained from DKl and DKB 701 in Moosimcheon River water, the plasmids were rearranged by 4 and 8. respectively, and all of them showed hybridization by the $Km^{r}$ probe. But the small plasmids of the recipient disappeared in the conjugant from DKC600 as donor, and the rearranged plasm ids and chromosome in the conjugants were observed to be hybridized with the $Km^{r}$ probe. Therefore, rearrangement of $Km^{r}$ gene and plasmids by conjugation was found to be afTected diversely by cellular characteristics as well as by environmental factors.

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Imaging Findings of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion in a 4-Year-Old Male: Case Report and Review of Literature (4세 남아에서 발견된 Xp11.2 염색체 재배열/TFE3 유전자 융합 연관 신세포 암의 영상 소견: 증례보고 및 문헌고찰)

  • Kim, Hyun Gi;Lee, Mi-Jung;Lee, Sarah;Kim, Myung-Joon;Hong, Chang Hee
    • Investigative Magnetic Resonance Imaging
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    • v.17 no.1
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    • pp.41-46
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    • 2013
  • We represent a pathologically proven case of a four-year-old male patient with renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion, which is rare but more frequent in children or young adults. Computed tomography showed about 2.5 cm size ill-defined mass in the right kidney. The mass was hyperechoic on ultrasound. Magnetic resonance imaging demonstrated a mass with capsular enhancement and diffusion restriction. We present a case of Xp11.2 renal cell carcinoma and provide review of the literature.

Karyotypes of Genus Liobagrus (Pisces : Amblycipitidae) in Korea (한국산(韓國産) 퉁가리속(屬) 어류(魚類)의 핵형(核型) 분석(分析))

  • Son, Yeong-Mok;Lee, Ji-Hyun
    • Korean Journal of Ichthyology
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    • v.1 no.1_2
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    • pp.64-72
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    • 1989
  • Karyological characteristics were investigated in 3 species of the genus Liobagrus from Korea. The diploid chromosome number in L. andersoni was found to be 28, with 9 pairs of metacentrics and 5 pairs of submetacentric chromosomes, and arm number (AN) was 56. L. mediadiposalis was found with 2n of 42, consisting of 13 pairs of metacentrics and 8 pairs of submetacentric chromosomes (AN=84). In the case of L. obesus 2n was 20, with 20 metacentric chromosomes (AN=40), which was the lowest among the species of the order Siluriformes. Sexual dimorphism or intraspecific polymorphism of the chromosomes was not observed in any species examined.

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Analysis of Chromosome aberrations by fluorescence in situ hybridization using triple chromosome-specific probes in human lymphocyte exposed to radiation (3중 DNA probe를 이용한 FISH(fluorescence in situ hybridization) 기법으로 방사선에 의한 염색체 이상 분석)

  • Chung, Hai-Won;Kim, Su-Young;Ha, Sung-Whan
    • Journal of Radiation Protection and Research
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    • v.24 no.1
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    • pp.45-53
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    • 1999
  • Fluorescence in situ hybridization with chromosome-specific probe has been shown to be a valid and rapid method for detection of chromosome rearrangements induced by radiation. This method is useful for quantifying structural aberrations, expecially for stable ones, such as translocation and insertion, which are difficult to detect with conventional method in human lymphocyte. In order to apply FISH method for high dose biological dosimetry, chromosomal abberations by radiation at doses of 1, 3, 5, and 7Gy were analysed with whole chromosome-specific probes by human chromosome 1, 2 and 4 according to PAINT system. The frequencies of stable translocation per cell equivalent were 0.04, 0.33, 1.22, 2.62, and 5.58 for the lymphocyte exposed to 0, 1, 3, 5, and 7Gy, respectively, and those of dicentric were 0.00, 0.06, 0.52, 1.19 and 2.44, respectively. Significantly more translocation of t(Ab), a translocated chromosome with a piece of painted acentric matrial 'b' attached to unpainted piece containing centromere 'A', than reciprocal chromosome t(Ba) was observed. The frequencies of all type of chromosome rearrangements increased with dose. From above result, FISH seemed to be useful for radiation biodosimetry by which the frequencies of various types of stable aberrations in human lymphocyte can be observed more easily than by conventional method and so will improve our ability to perform meaningful biodosimetry.

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The Effect of Extremely Low Frequency Electromagnetic Fields on the Chromosomal Instability in Bleomycin Treated Fibroblast Cells (Bleomycin이 처리된 사람 섬유아세포에서 극저주파 전자기장의 효과)

  • Cho, Yoon-Hee;Kim, Yang-Jee;Lee, Joong-Won;Kim, Gye-Eun;Chung, Hai-Won
    • Journal of Radiation Protection and Research
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    • v.33 no.4
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    • pp.161-166
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    • 2008
  • In order to determine the effect of extremely low frequency electromagnetic fields (ELF-EMF) on the frequency of micronuclei (MN), aneuploidy and chromosomal rearrangement induced by bleomycin (BLM) in human fibroblast cells, a 60 Hz ELF-EMF of 0.8 mT field strength was applied either alone or with ELM throughout the culture period and a micronucleus-centromere assay was performed. Our results indicate that the frequencies of MN, aneuploidy and chromosomal rearrangement induced by ELM increased in a dose-dependent manner. The exposure of cells to 0.8 mT ELF-EMF followed by ELM exposure for 3 hours led to significant increases in the frequencies of MN and aneuploidy compared to BLM treatment for 3 hours alone (p<0.05), but no significant difference was observed between field exposed and sham exposed control cells. The obtained results suggest that low density ELF-EMF could act as an enhancer of the initiation process of BLM rather than as an initiator of mutagenic effects in human fibroblast.

A Comparative Karyotype Study in Korean Squirrels. I Karyotype Analysis of Sciunis vulgaris coreae and Tamlas sibiricus asiaticus by Conventional Giemsa Staining and C-Banding Method (한국산 다람쥐 핵형의 비교연구 I.일반염색과 C-Banding방법에 의한 한국산 청서(Sciurus vulgaris corea) 와 다람쥐(Tamias sibiricus asiaticus)의 핵형 분석)

  • 김종봉;이희영
    • The Korean Journal of Zoology
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    • v.33 no.2
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    • pp.222-230
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    • 1990
  • The karyotypes of Korean Sciunis vulgaris coreas and Tamias sibiricus asiaticus were analyzed by conventional Giemsa staining and C-banding method. The diploid chromosome number (2n) of Sciunis vulgaris coreae 40 consisting of 6 metacentric, 8 submetacentric, 3 subtelocentric and 2 telocentric autosome pairs, submetacentric X and acrocentric or subtelocentric Y chromosome. The arm number (NF) of this species was obtained as 72, excluding the gonosomal arms. Tamias sibiricus asiaticus has a 2n of 38. The karyotype was represented by 3 metacentric, 4 submetacentric, 5 subtelocentric and 6 telocentric autosome paits and 2 sex chromosome. The X chromosome was submetacentric chromosome and the Y was the smallest chromosome with a median. The NF was 60. In S. vulgaris coreae constitutive heterochromatins were observed at the centromeres and telomeres. Constitutive heterochnomatins of T sibiricus asiaticus were primarily observed at the centromeres. These results suggested that non-Robensonian reanagenents and distribution of constitutive heterochromatin played an imporiant role in karyological differentiation of these species.

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Chromosome Rearrangements Detected by Fluorescence in situ Hybridization in Human Lymphocyte Exposed to Bleomycin (Fluorescence in situ hybridization (FISH)를 이용하여 분석한 Bleomycin에 의한 사람 림프구의 염색체 재배열)

  • 손은희;정경인;정해원
    • Environmental Mutagens and Carcinogens
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    • v.17 no.1
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    • pp.12-16
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    • 1997
  • Chromosome rearrangement induced by bleomycin were identified by fluorescence in situ hybridization with probe for chromosome 4. The frequency of color junctions, translocations, dicentric and acenttic fragments increased with bleomycin dose. Different types of balanced translocation and dicentric were scored and compared. The frequency of cells exhibiting multiple aberration was higher compared to that of cells exposed to Gamma radiation suggesting that effect of bleomycin might be similar to that of high LET radiation.

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Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation (선천성 정신지체가 있는 der(8)t(8;13)(p23.3;q32.1) 핵형의 성인여성)

  • Lee, Soo-Min;Lee, Dong-Suk;Jeong, Hyun-Ah;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.65-68
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    • 2008
  • Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year-old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.

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The Recurrent Pregnancy Loss Associated with a Female Carrier of a Structural Chromosome Rearrangement (염색체 구조적 이상을 가진 산모의 재조합에 의한 태아의 비정상 핵형분석결과의 증례보고)

  • Lee, Soo-Min;Go, Sang-Hee;Jo, Soo-Kyung;Park, So-Hyun;Moon, Soo-Jin;Lee, Dong-Suk;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.156-159
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    • 2010
  • Inversion, one of the balanced rearrangements, usually does not lead to phenotypic abnormalities; all genetic information exists in the proper amount, merely in a different order or in an abnormal location. However, offspring of an inversion carrier is at risk of chromosomal imbalance because an inversion loop can be formed during crossing-over of the paternal and the maternal chromosomes in meiosis. We report a 38-year-old woman with inversion and balanced translocation and her fetus with unusual rearrangement causing chromosomal imbalance. We performed conventional cytogenetic analysis, MLPA, and subtelomeric FISH in the cells of the embryo. The results showed that the distal portion of chromosome 13q was added to the terminal portion of chromosome 9p during crossing-over. Therefore, the final karyotype of the fetus was 46,XY,rec(9)t(9;13)(p22;q32)inv(9)(p12q13)mat, confirmed using molecular-cytogenetic analyzing tools.

Monocentric Derivative Y Chromosome with Duplication of the SRY Gene in an Azoospermic Male (무정자증 불임남성에서 관찰된 SRY 유전자의 중복을 동반한 일동원체성 derivative Y 염색체)

  • Choi, Eun-Young;Lee, Bom-Yi;Park, Ju-Yeon;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Kim, Shin-Young;Han, You-Jung;Lee, Mee-Bum;Ryu, Hyun-Mee;Seo, Ju-Tae;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.160-164
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    • 2010
  • Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis. The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY gene and deletion of Yq12 heterochromatin. The karyotype was 46,X,der(Y)(pter${\rightarrow}$q11.23::p11.2${\rightarrow}$pter).ish der(Y)(DYZ3+,DYZ1-,SRY++), confirmed through a FISH study. Even though the patient possessed an abnormal Y chromosome, testicular biopsy showed normal testicular volumes in the proband, with gonadal hormonal levels in the normal range but bilateral varicocele and hypospermatogenesis. We speculate that the abnormal Y chromosome arose from sister chromatids during Y chromosome recombination or intra chromosomal NAHR (non-allelic homologous recombination) during meiosis in the patient's father or in the very early stages of embryogenesis. The derivative Y chromosome might interfere in the meiotic stage of spermatogenesis, leading to the developmental arrest of germ cells. The present case illustrates that the infertility phenotype can have various causes. Also, it emphasizes the importance of accurate and various genetic analyses and could aid in male infertility treatment.