• 제목/요약/키워드: Q-FISH

검색결과 139건 처리시간 0.021초

Combined Study of Cytogenetics and Fluorescence in Situ Hybridization (FISH) Analysis in Childhood Acute Lymphoblastic Leukemia (ALL) in a Tertiary Cancer Centre in South India

  • Mazloumi, Seyed Hashem Mir;Madhumathi, D.S.;Appaji, L.;Prasannakumari, Prasannakumari
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권8호
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    • pp.3825-3827
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    • 2012
  • FISH is one of the most sensitive molecular methods to detect genetic abnormalities with DNA probes. When cytogenetic studies are normal or insufficient, FISH may detect cryptic rearrangements, rare or slowly proliferative abnormal populations in non-mitotic cells. We cytogenetically evaluated 70 childhood ALL - 67.1% were found to have an abnormal karyotype. The 23 patients (32.9%) with a normal karyotype were analyzed by FISH applying two probes; TEL/AML1 and MYB which detect cryptic rearrangements of t(12;21)(p13;q22) and deletion of (6q) respectively, associated with a good prognosis. Out of 23 patients, one was positive for t(12;21)(p13;q22) (4.3%). None of our patients were positive for MYB del(6q). Two patients showed an extra signal for MYB on chromosomes other than 6 (8.6 %) indicating amplification or duplication. Findings were compared with the available literature. Our study clearly indicated the integrated FISH screening method to increase the abnormality detection rate in a narrow range. FISH is less useful for diagnostic study of patients with suspected del(6q) but it helps in detecting known cryptic rearrangements as well as identification of new abnormalities(translocation , duplication and amplification) at the gene level.

Prevalence of Haplorchis taichui and Haplorchoides sp. Metacercariae in Freshwater Fish from Water Reservoirs, Chiang Mai, Thailand

  • Nithikathkul, Choosak;Wongsawad, Chalobol
    • Parasites, Hosts and Diseases
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    • 제46권2호
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    • pp.109-112
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    • 2008
  • A parasitological investigation on trematode metacercariae was made on 62 freshwater fishes of 13 species in northern Thailand; Cyclocheilichthys apogon, Puntioplites proctozysron, Labiobarbus siamensis, Barbodes gonionotus, Barbodes altus, Henicorhynchus siamensis, Osteochilus hasselti, Notopterus notopterus, Mystacoleucus marginatus, Anabas testudineus, Systomus orphoides, Morulius chrysophykadian, and Hampala macrolepidota. The fish were caught over the summer period (February-May 2007) from 2 Chiang Mai water reservoirs, i.e., the Mae Ngad (UTM 47Q E 503200, 47Q N 2119300) and the Mae Kuang Udomtara (UTM 47Q E 513000, 47Q N 2092600) Reservoirs in Chiang Mai province, Thailand. The prevalence of heterophyid (Haplorchis taichui and Haplorchoides sp.) metacercariae in these fish was 83.9% and 74.2% in the Mae Ngad and Mae Kuang Udomtara Reservoirs, respectively. The highest intensity of heterophyid metacercariae in H. siamensis in the Mae Ngad was 120.4 and that in P. proctozysron in the Mae Kuang Udomtara was 180.0. The fish, A. testudineus, C. apogon, and M. chrysophykadian, were not found to be infected with H. taichui metacercariae. The results show that the freshwater fish in Chiang Mai water reservoirs are heavily infected with H. taichui and Haplorchoides sp. metacercariae.

사료내 맥반석과 BAISM 복합첨가가 치어기 뱀장어 Anguilla japonica의 성장과 내병성에 미치는 영향 (Effects of Dietary Quartz Porphyry and Feed Stimulants, BAISM Supplementation on Growth Performance and Disease Resistance of juvenile eel Anguilla japonica)

  • 배준영;한경민;이준호;김상은;이정열;배승철
    • 한국양식학회지
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    • 제21권1호
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    • pp.26-33
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    • 2008
  • 이 연구는 치어기 뱀장어 Anguilla japonica의 사료 내 맥반석(quartz porphyry, QP)과 BAISM을 단독 및 혼합 첨가가 성장과 내병성에 미치는 영향을 확인하고 첨가제로써 이용성을 평가하였다. 사료 내 첨가 물질로 맥반석(Quartz porphyry, QP)과 실험실에서 제작한 섭취 촉진 물질인 BAISM(BS)을 기초 사료에 각각 0% QP+0% BS($Q_0B_0$), 0.7% QP+0% BS($Q_{0.7}B_0$), 0.7% QP+0.3% BS($Q_{0.7}B_{0.3}$), 0.7% QP+0.5% BS($Q_{0.7}B_{0.5}$), 0.7% QP+0.75% BS($Q_{0.7}B_{0.75}$), 0.7% QP+1.0% BS($Q_{0.7}B_{1.0}$)의 6가지 수준으로 첨가하였다. 실험어는 4주간 예비사육 후, 평균 어체중 $15{\pm}0.3g(mean{\pm}SD)$인 치어기 뱀장어를 60 L 사각수조에 실험구별 30 마리씩 3반복으로 무작위 배치하여 8주간 사육실험을 진행하였다. 사육실험 종료 후, Edwardsiella tarda 복강 주사에 의한 누적 생존율을 조사하였다. 증체율, 일간성장률, 사료효율, 단백질전환효율에서 맥반석 단독 첨가구($Q_{0.7}B_0$)와 맥반석 BAISM 복합 첨가구($Q_{0.7}B_{0.3},\;Q_{0.7}B_{0.5},\;Q_{0.7}B_{0.75},\;Q_{0.7}B_{1.0}$)는 대조구($Q_0B_0$)에 비하여 유의하게 높았다(P<0.05). 특히, 맥반석 BAISM 복합 첨가구들 중 BAISM 0.5% 이상의 실험구($Q_{0.7}B_{0.5},\;Q_{0.7}B_{0.75},\;Q_{0.7}B_{1.0}$)는 나머지 실험구들에 비해 유의하게 높았고(P<0.05), 이들에 대한 유의한 차이는 없었다(P>0.05). 전어체 일반성분의 분석결과 수분 함량은 전 실험구에서 유의한 차이가 없었고(P>0.05), 단백질 함량은 첨가수준에 따라 유의적으로 증가한 반면(P<0.05), 지질과 회분의 함량은 유의적으로 감소하는 경향을 나타내었다(P<0.05). E. tarda에 의한 공격실험 결과 주사 15일 후, 맥반석BAISM 0.5% 이상 혼합 첨가구의 누적 생존율은 다른 실험구에 비해 유의하게 높았고(P<0.05), 전 실험구에서 40% 이상의 누적 생존율을 나타내었다. 따라서 치어기 뱀장어 사료에 맥반석 0.7%와 BAISM 0.5%를 첨가하는 것이 성장과 사료효율 증대 및 질병 저항성 증진에 효과가 있을 것으로 판단된다.

Detection of HER2 Status in Breast Cancer: Comparison of Current Methods with MLPA and Real-time RT-PCR

  • Pazhoomand, Reza;Keyhan, Elahe;Banan, Mehdi;Najmabad, Hossein;Karimlou, Masoud;Khodadad, Faranak;Iraniparast, Alireza;Feiz, Farnaz;Majidzadeh, Keivan;Bahman, Ideh;Moghadam, Fatemeh Aghakhani;Sobhani, Atoosa Madadkar;Abedin, Seyedeh Sedigheh;Muhammadnejad, Ahad;Behjat, Farkhondeh
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권12호
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    • pp.7621-7628
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    • 2013
  • Human epidermal growth factor receptor (HER) status is an important prognostic factor in breast cancer. There is no globally accepted method for determining its status, and which method is most precise is still a matter of debate. We here analyzed HER2 mRNA expression by quantitative reverse transcription-PCR (qRT-PCR) and HER2 DNA amplification using multiplex ligation-dependent probe amplification (MLPA). In parallel, we performed a routine evaluation of HER2 protein by immunohistochemistry (IHC). To assess the accuracy of the RT-PCR and MLPA techniques, a combination of IHC and fluorescence in situ hybridization (FISH) was used, substituting FISH when the results of IHC were ambiguous (2+) and for those IHC results that disagreed with MLPA and qRT-PCR, this approach being termed IHC-FISH. The IHC results for four samples were not compatible with the MLPA and qRT-PCR results; the MLPA and qRT-PCR results for these samples were confirmed by FISH. The correlations between IHC-FISH and qRT-PCR or MLPA were 0.945 and 0.973, respectively. The ASCO/CAP guideline IHC/FISH correlation with MLPA was (0.827) and with RT-PCR was (0.854). The correlations between the IHC results (0, 1+ as negative, and 3+ as positive) and qRT-PCR and MLPA techniques were 0.743 and 0.831, respectively. Given the shortcomings of IHC analysis and greater correlations between MLPA, qRT-PCR, and FISH methods than IHC analysis alone with each of these three methods, we propose that MLPA and real-time PCR are good alternatives to IHC. However a suitable cut-off point for qRTPCR is a prerequisite for determining the exact status of HER2.

The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

  • Jang, Jin A;Sohn, Young Bae;Lee, Jang Hoon;Park, Moon Sung
    • Journal of Genetic Medicine
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    • 제18권1호
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    • pp.48-54
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    • 2021
  • Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/Adult Acute Lymphoblastic Leukemia in Omani Patients

  • Goud, Tadakal Mallana;Al Salmani, Kamla Khalfan;Al Harasi, Salma Mohammed;Al Musalhi, Muhanna;Wasifuddin, Shah Mohammed;Rajab, Anna
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권16호
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    • pp.7343-7350
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    • 2015
  • Genetic changes associated with acute lymphoblastic leukemia (ALL) provide very important diagnostic and prognostic information with a direct impact on patient management. Detection of chromosome abnormalities by conventional cytogenetics combined with fluorescence in situ hybridization (FISH) play a very significant role in assessing risk stratification. Identification of specific chromosome abnormalities has led to the recognition of genetic subgroups based on reciprocal translocations, deletions and modal number in B or T-cell ALL. In the last twelve years 102 newly diagnosed childhood/adult ALL bone marrow samples were analysed for chromosomal abnormalities with conventional G-banding, and FISH (selected cases) using specific probes in our hospital. G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. Patients with pseudodiploidy represented the most frequent group (38.7%) followed by high hyperdiploidy group (12.9%), low hyperdiploidy group (9.7%), hypodiploidy (<46) group (9.7%) and high hypertriploidy group (3.2%). The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). Interestingly, we identified 16 cases with rare and complex structural aberrations. Application of the FISH technique produced major improvements in the sensitivity and accuracy of cytogenetic analysis with ALL patients. In conclusion it confirmed heterogeneity of ALL by identifying various recurrent chromosomal aberrations along with non-specific rearrangements and their association with specific immunophenotypes. This study pool is representative of paediatric/adult ALL patients in Oman.

Hc nuclear polyhedrosis virus DNA 제한효소절편의 molecular cloning 과 외래 유전자 발현 (Molecular cloning and foreign gene expression of restriction endonuclease fragments of the Hc nuclear polyhedrosis virus DNA)

  • 이근광
    • 한국어병학회지
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    • 제8권1호
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    • pp.31-36
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    • 1995
  • HcNPV DNA genome 을 제한효소 EcoRI 으로 절단하여 그들의 일부 절편을 pUC8 vector 에 cloning 한 후 E. coli JM 83 세포에 형질 전환시켰다. 이 결과 24 개의 EcoRI 절편중 12 개의 절편이 cloning 되었다. 이들 제조합체중 4 개는 eNP-O, eNP-Q, eNP-R, eNP-S 라 명명하였다. 또한 이들 제조합체의 외래 유전자 발현을 SDS-PAGE 에 의해 단백질 패턴을 분석하였다. 그 결과 제조합체 eNP-O, eNP-Q, eNP-R 에서는 E. coli JM 83 숙주세포의 단백질 밴드와 비교하여 다른 분자량을 갖는 밴드가 나타났다.

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한국 주요 어종의 시장수요와 개인수요의 비교분석 (Comparative Analysis of Market Demand and Individual Demand for Major Fish Species in Korea)

  • 박환재
    • 수산경영론집
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    • 제43권1호
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    • pp.35-48
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    • 2012
  • Inverse demand models are well established as market demands in theory and practice of the existing literature. However, the derivation and its interpretation of individual demands from the market demands are not well known in the literature. This paper analyzes the fish market in Korea by the inverse demand model and shows how we deduce the consumer's responses from the market responses when the markets determine the prices by the quantities demanded. It illustrates empirically how this can be done applying to the korean fish market data. The empirical results show that all fishes are price inflexible and mackerels and hairtails are scale flexible in the market demand while mackerels, hairtails, and croakers are price elastic and mackerels and hairtails are income inelastic in the individual demand. The methodology and empirics used in the paper will make a contribution to the existing literature especially for the purpose of recovering consumer's demand from the market demand, thus implementing the policies to administer the fish markets.

소, 돼지 염색체의 telomeric DNA 분포 양상 (Chromosomal Localization and Distribution of the Telomeric DNA in Cattle and Pigs)

  • 손시환;;;조은정;하해봉
    • Journal of Animal Science and Technology
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    • 제46권4호
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    • pp.547-554
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    • 2004
  • 텔로미어란 진핵세포에 존재하는 DNA-protein 복합체로서 염색체의 말단부에 tandem repeated DNA 서열(TTAGGG)n과 특정 단백질로 구성되어 있으며 세포 분열이 진행함에 따라 이의 길이가 짧아지게 되고 일정 길이 이하가 되면 세포의 사망이 유기된다. 텔로미어의 역할은 게놈의 보호자로서 염색체의 안정성에 본질적으로 작용할고 감수분열시 상동염색체간의 접합에 주된 작용을 하는 것으로 알려져 있다. 본 연구는 소와 돼지의 성축에 대한 텔로미디어의 핵형과 각 염색체상 텔로미어의 양적 분포 양상을 제시하고자 Holstein과 Landrace를 공시하고 이들로부터 섬유아세포 배양으로 중기상을 획득한 다음 human telomeric DNA probe를 이용하여 형광접합보인법(FISH)으로 분석하였다. 실험 결과 소와 돼지의 모든 염색체의 양 말단부에 뚜렷한 텔로미어 프로브의 접합 양상을 발견할 수 있었다. 소의 경우 염색체들 간 텔로미디어의 양적 변이가 나타났으며 돼지의 경우는 모든 분석된 세포에서 특이적으로 6q1의 위치에 interstitial telomere가 존재하였다. 양적형광접합보인법(Q-FISH) 분석 결과 일부 염색체에서 한쪽 말단의 텔로미어 함량이 유의적으로 높은 것으로 분석되었고, 전체적으로 거의 모든 염색체에서 소, 돼지 공히 q-arm 말단주의 함유율이 p-arm 말단부에 비해 높은 것으로 나타났다. 또한, 염색체상 텔로미어의 상대적 함유율은 소가 돼지에 비해 높게 나타났으며, 전체 염색체 중 텔로미어의 상대적 함유율은 소, 돼지 모두 Y 염색체에서 가장 높았다.

14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure

  • Cheon, Chong-Kun;Park, Sang-Jin;Choi, Ook-Hwan
    • Journal of Genetic Medicine
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    • 제8권1호
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    • pp.62-66
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    • 2011
  • 14q32.33을 포함한 14번 염색체 장완 결실은 드문 질환이다. 14번 염색체의 말단 결실은 여러 임상증상을 공통적으로 보일 수 있으나 결실 절단부 (breakpoint)에 따라 표현형이 다양하게 발생할 수 있다. 저자들은 경련을 동반한 5세 여아에서 array comparative genomic hybridization (array-CGH)와 fluorescence in situ hybridization (FISH) 방법을 이용하여 이전 보고에 비해 가장 작은 14q32.33부위의 0.33 Mb 크기의 말단 결실과 심하지 않은 표현형을 보이는 1례를 경험 하였기에 문헌고찰과 함께 보고하는 바이다.