• Title/Summary/Keyword: Chromosomal Aberrations

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Gene Expression Profiling of Non-Hodgkin Lymphomas

  • Zekri, Abdel-Rahman Nabawy;Hassan, Zeinab Korany;Bahnassy, Abeer Ahmed;Eldahshan, Dina Hassan;El-Rouby, Mahmoud Nour Eldin;Kamel, Mahmoud Mohamed;Hafez, Mohamed Mahmoud
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.7
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    • pp.4393-4398
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    • 2013
  • Background: Chromosomal translocations are genetic aberrations associated with specific non-Hodgkin lymphoma (NHL) subtypes. This study investigated the differential gene expression profile of Egyptian NHL cases based on a microarray approach. Materials and Methods: The study included tissue samples from 40 NHL patients and 20 normal lymph nodes used as controls. Total RNA was extracted and used for cDNA microarray assays. The quantitative real time polymerase chain reaction was used to identify the aberrantly expressed genes in cancer. Results: Significant associations of 8 up-regulated and 4 down-regulated genes with NHL were observed. Aberrant expression of a new group of genes not reported previously was apparent, including down-regulated NAG14 protein, 3 beta hydroxy-delta 5-c27 steroid oxi-reductase, oxi-glutarate dehydrogenase (lipo-amide), immunoglobulin lambda like polypeptide 3, protein kinase x linked, Hmt1, and caveolin 2 Tetra protein. The up-regulated genes were Rb binding protein 5, DKFZP586J1624 protein, protein kinase inhibitor gamma, zinc finger protein 3, choline ethanolamine phospho-transferase CEPT1, protein phosphatase, and histone deacetylase-3. Conclusions: This study revealed that new differentially expressed genes that may be markers for NHL patients and individuals who are at high risk for cancer development.

Chromosome 3p Deletions in Korean Head and Neck Carcinomas (한국인 두경부암 환자에서 제3번 염색체 단완의 결손)

  • Son Mi-Na;Yoo Young-A;Cho Zeung-Keun;Choi Kun;Choi Jong-Wook;Kim Yeul-Hong;Kim Jun-Suk
    • Korean Journal of Head & Neck Oncology
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    • v.14 no.1
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    • pp.20-26
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    • 1998
  • Objectives: Deletion in the short arm of chromosome 3 is common in many human cancers, including sporadic and hereditary renal carcinomas, small cell lung carcinomas, non-small cell lung carcinomas, and carcinomas of the ovary, breast, and cervix. A high frequency of chromosomal aberrations in head and neck cancers involving chromosome 3p has also been reported. These findings suggest that multiple tumor suppressor genes may be present on the short arm of chromosome 3. Materials and Methods: To investigate the possibility of chromosome 3p deletions in the Korean head and neck cancer patients, we applied a polymerase chain reaction(PCR)-based Restriction Fragment Length Polymorphism analysis to the DNA samples of matched normal mucosa and head and neck squamous cell carcinomas from 19 patients. Results: In the 19 normal samples heterozygosity at the polymorphic loci varied: 6 at the D3F15S2 locus(on telomeric 3p21), 2 at the D3S32 locus(on centromeric 3p21), and 4 at the THRB locus(on centromeric 3p24). In 12 matched carcinoma specimens, LOH(loss of heterozygosity) was observed at D3F15S2 in 1 of 6(17%), D3S32 in 1 of 2(50%), and at THRB in 2 of 4 cases(50%). Conclusion: The frequency of chromosome 3p deletion in the Korean head and neck carcinomas appear as other country did.

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Identification of Genomic Aberrations by Array Comparative Genomic Hybridization in Patients with Aortic Dissections

  • Suh, Jong-Hui;Yoon, Jeong-Seob;Kwon, Jong-Bum;Kim, Hwan-Wook;Wang, Young-Pil
    • Journal of Chest Surgery
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    • v.44 no.2
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    • pp.123-130
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    • 2011
  • Background: The aim of the present study was to identify chromosomal loci that contribute to the pathogenesis of aortic dissection (AD) in a Korean population using array comparative genomic hybridization (CGH) and to confirm the results using real-time polymerase chain reaction (PCR). Materials and Methods: Eighteen patients with ADs were enrolled in this study. Genomic DNA was extracted from individual blood samples, and array CGH analyses were performed. Four corresponding genes with obvious genomic changes were analyzed using real-time PCR in order to assess the level of genomic imbalance identified by array CGH. Results: Genomic gains were most frequently detected at 8q24.3 (56%), followed by regions 7q35, 11q12.2, and 15q25.2 (50%). Genomic losses were most frequently observed at 4q35.2 (56%). Real-time PCR confirmed the results of the array CGH studies of the COL6A2, DGCR14, PCSK6, and SDHA genes. Conclusion: This is the first study to identify candidate regions by array CGH in patients with ADs. The identification of genes that may predispose an individual to AD may lead to a better understanding of the mechanism of AD formation. Further multicenter studies comparing cohorts of patients of different ethnicities are warranted.

A case of isodicentric chromosome 15 presented with epilepsy and developmental delay

  • Kim, Jon Soo;Park, Jinyu;Min, Byung-Joo;Oh, Sun Kyung;Choi, Jin Sun;Woo, Mi Jung;Chae, Jong-Hee;Kim, Ki Joong;Hwang, Yong Seung;Lim, Byung Chan
    • Clinical and Experimental Pediatrics
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    • v.55 no.12
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    • pp.487-490
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    • 2012
  • We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

Effects of paternal age on human embryo development in in vitro fertilization with preimplantation genetic screening

  • Kim, Min Kyoung;Park, Jae Kyun;Jeon, Yunmi;Seok, Su Hee;Chang, Eun Mi;Lee, Woo Sik
    • Clinical and Experimental Reproductive Medicine
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    • v.46 no.1
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    • pp.22-29
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    • 2019
  • Objective: As paternal age increases, the quality of sperm decreases due to increased DNA fragmentation and aneuploidy. Higher levels of structural chromosomal aberrations in the gametes ultimately decrease both the morphologic quality of embryos and the pregnancy rate. In this study, we investigated whether paternal age affected the euploidy rate. Methods: This study was performed using the medical records of patients who underwent in vitro fertilization (IVF) procedures with preimplantation genetic screening (PGS) from January 2016 to August 2017 at a single center. Based on their morphological grade, embryos were categorized as good- or poor-quality blastocysts. The effects of paternal age were elucidated by adjusting for maternal age. Results: Among the 571 total blastocysts, 219 euploid blastocysts were analyzed by PGS (38.4%). When the study population was divided into four groups according to both maternal and paternal age, significant differences were only noted between groups that differed by maternal age (group 1 vs. 3, p= 0.031; group 2 vs. 4, p= 0.027). Further analysis revealed no significant differences in the euploidy rate among the groups according to the morphological grade of the embryos. Conclusion: Paternal age did not have a significant impact on euploidy rates when PGS was performed. An additional study with a larger sample size is needed to clarify the effects of advanced paternal age on IVF outcomes.

Assessment of DNA damage and Chromosome aberration in human lymphocyte exposed to low dose radiation detected by FISH(fluorescence in situ hybridization) and SCGE(single cell gel electrophoresis) (FISH기법 및 단세포전기영동기법을 이용한 저선량 방사선에 의한 DNA 상해 및 염색체이상 평가)

  • Chung, Hai-Won;Kim, Su-Young;Kim, Byung-Mo;Kim, Sun-Jin;Kim, Tae-Hwan;Cho, Chul-Koo;Ha, Sung-Whan
    • Journal of Radiation Protection and Research
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    • v.25 no.4
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    • pp.223-232
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    • 2000
  • Comparative study was performed for the assessment of DNA damage and Chromosomal aberration in human lymphocyte exposed to low dose radiation using fluorescence in situ hybridization(FISH) and single cell gel electrophoresis(SCGE). Chromosomal aberrations in human lymphocytes exposed to radiation at doses of 5, 10, 30 and 50cGy were analysed with whole chromosome-specific probes by human chromosome 1, 2 and 4 according to PAINT system. FISH with chromosome-specific probe has been used to be a valid and rapid method fer detection of chromosome rearrangements induced by low dose radiation. The frequencies of stable translocation per cell equivalents were 0.0116, 0.0375, 0.040f, 0.0727 and 0.0814 for 0, 5, 10, 30 and 50cGy, respectively, and those of dicentric were 0.00, 0.0125, 0.174, 0.0291 and 0.0407 respectively. Radiation induced DNA damage in human lymphocyte in a dose-dependent manner at low doses from 5cGy to 50cGy, which were analysed by single tell gel electrophoresis(SCGE). From above results, FISH seemed to be useful for radiation biodosimetry by which the frequencies of stable aberrations in human lymphocyte can be observed more easily than by conventional method and SCGE also seemed to be sensitive method f9r detecting DNA damage by low dose radiation exposure, so that those methods will improve our technique to perform meaningful biodosimetry for radiation at low doses.

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초파리 집단내 역위빈도의 계절적 변동에 관한 연구

  • Lee, Tae-Hun;Gwon, Guk-Il;Im, Nak-Ryong
    • The Korean Journal of Zoology
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    • v.31 no.4
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    • pp.327-333
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    • 1988
  • 계절에 따른 초파리 집단내 역위다형 현상의 변동상을 알기 위하여 전주근교의 과수원에서 1983년 1월부터 11월까지 격월로 여섯번 채집한 집단 표본을 분석하였다. 총 1071마리에서 얻은 15개형의 역위는 모두 편동원체역위(paracentric inversion)였으며, 이 중 7개형은 세계형91위(cosmopolitan inversion)였고, 나머지 8개형은 지역형역위(endemic inversion)였다. 개체당 역위의 평균 보유수는 0.639이고 역위를 보유한 개체의 빈도는 0.465였다. 7개의 세계형역위에 대한 표본집단을 분석한 결과 격월 집단간에서 유의한 차이를 보이는 반면 1월과 1 1월 표본간에서는 그 성황이 오히려 비숫해짐으로서 집단내 총역위빈도는 주기적으로 변동하고 있음이 암시된다. 역위와 환경변수와의 다중상관분석에서는 기온, 습도, 강수량이 역위빈도에 유의한 영향을 미치는 것으로 나타났고 역위 중 In(2L)t가 상기한 환경변수 모두에 대하여 유의한 상관관계를 보인 반면, In(3R)C와 In(3R)P는 어느 것과도 상관성을 보이지 않았다. 염색체내 그리고 염색체간의 연관 또는 조합의 검정결과 연관불평형혈상을 1월, 5월, 그리고 7월 표본의 제3염색체에서, 그리고 비균일조합은 1월과 7월 표본에서 역시 제3염색체에서만 산출 되었다. Seasonal changes of inversion frequencies in Chonju 0. melanogaster populations were studied. A total of 1071 males were collected six times with ho months intewal from January through November in 1983. to analyse diploid sets of chromosomes carried by males, each male was mated to several virgin females homoBvgous for cytologically standard sequence in all chromo-somes. From each mating, more than seven FL larvae were selected in random and tested to find chromosomal aberrations. In the present study, 15 different inversions were found and identified to be paracentric only In both second and third chromosomes; seven were cosmopolitan and the rest eight endemic types. The average frequency of inversions was 0.465 and the mean number of inversions carried by a single male was 0.639. The linkage disequilibria were detected between the leK and right arms of third chromosomes from the samples of January, May and Julv, Whereas nonrandom associations appeared also in the third chromosomes only in January and Julv samples. In multiple regression analysis among frequencies of inversions and environ-mental variables it appeared that mean temperature, relative humidity and total precipitation for a month skipped over 30 days before collected affect to change to frequencies of particular inver-sions. With respect to the behavior of inversions in the present samples, it is suggested, with the Friedman's analysis of variance by ranks of inversion frequency orders, that the frequencies of inversions change cyclically year to year.

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Diagnosis and Treatment of Gastric MALT Lymphoma (위 MALT 림프종의 진단 및 치료에 대한 고찰)

  • Tae Ho Kim
    • Journal of Digestive Cancer Research
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    • v.3 no.2
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    • pp.82-88
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    • 2015
  • Gastric lymphoma comprises 1-6% of all gastric malignant neoplasms and among them 50% is gastric MALT lymphoma. The 60-70% of MALT lymphomas is diagnosed at early, localized diseased state. Gastric MALT lymphoma is assumed that it progress slowly with indolent course. It presents nonspecific symptoms such as epigastric pain, dyspepsia, nausea and vomiting. It is rarely associated with serious complication such as gastrointestinal bleeding or perforation. The definite diagnosis of gastric MALT lymphoma should be made with histopathologically. Wotherspoon score is used to differential diagnosis with Helicobacter pylori associated gastric inflammatory change. Gastric MALT lymphoma is associated with Helicobacter pylori infection with supported by epidemiologic and histopathologic studies. Gastric MALT lymphoma is characterized with genetic aberrations such as trisomy 3, trisomy 18, chromosomal translocations t(11;18), t(1;14), t(14;18), t(3;14). Appropriate clinical staging is essential to determine the optimal treatment strategy for gastric MALT lymphoma. Lugano International Conference classification has been applied widely. Helicobacter pylori eradication is used as the first line treatment for gastric MALT lymphoma independent of the stage. The complete remission has been achieved in 60-90% of the stage I/II1 patients with Helicobacter pylori eradication only. The treatment options for the patients with refractory to eradication are radiotherapy, chemotherapy and/or immunotherapy with the complete remission rate of 75% to 100%. The incidence of gastric MALT lymphoma can be expected to down by virtue of the decrease of Helicobacter pylori infection rate. Further basic and clinical research is necessary to advance in determine the pathogenesis and management.

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Studies on the Biological Effects of Chemosterilant, Hempa, on the Rice Weevil (Sitophilus oryzae 1.) and Transmission of Sterility (화학적 불임유기물질 Hempa가 쌀바구미(Sitophilus oryzae L.)에 미치는 생물학적 영향 및 불임성의 전달에 관한 연구)

  • Shim Jai Wook
    • Korean journal of applied entomology
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    • v.12 no.1
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    • pp.1-21
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    • 1973
  • Some experiments were conducted to investigate the effects of the chemosterilant, hempa, on the biology of the rice weevil, Sitophilus oryzae L., and the transmission of the lethal factors in the progeny. One to three days old adult males were fed on the wheat grains treated with concentrations of 0.0625, 0.125, 0.25, and $0.5\%$ of hempa water solution. The effects of the treatment on the mortality, longevity, and the performance of oviposition were examined for the Pl generation, and the hatchability and mortality in the postembryonic development were also tested in the $F_1,\;F_2,\;BC_1,\;F_3,\;and\;BC_2$ generations to analyze the inheritance of the lethal factors. The results obtained were summarized as follows. (1) The average longevity of the treated males were ranged from 26.6 to 30.4 days, and indicated no statistical differences. (2) The mortality of the treated males were ranged between $3.3\%\;and\;13.3\%$ and showed no statistical significance. (3) The overall mean number of eggs laid by a female mated to a treated male with concentrations of 0.0625, 0.125, 0.26 and $0.5\%$ were 3.78, 4.05, 3.75 and 3.61 for the respective treatments, and they were not differ significantly from those of control which were 3.60 per female per 3 day period. The unmated female laid 1.91 in the same period, and significantly differ from those in other experimental groups. (4) The overall mean hatchability of the eggs laid by the females mated with males that had been treated with various concentrations of hempa were 86.82, 64.77, 53.47, 40.33 and $24.78\%$ for the respective concentrations of 0, 0.0625, 0.125, 0.25 and $0.5\%$. The hatchability decreased with the increasing concentrations. (5) The minimum hatchabilities were obtained from the eggs laid in the period of 10-12 days after treatment, then the hatchability increased showing some recovery. The recovery seemed to be very much delayed for the males which had been treated with the greater concentrations. Such a difference in hatchability might be related with the sensitivity of the developmental stages of the sperms, and broader spectrum in the stages and severer effects seemed to be associated with the increased concentrations. (6) The overall mean of larval mortality in the $F_l$ generation were 6.55, 17.89, 27.40, 35.42 and $52.17\%$ for the respective concentrations of 0,0.0625, 0.125,0.25 and $0.5\%$. And there was a tendency to increase in the mortality with the increase of concentrations. (7) The correlation coefficients between per cent sterile eggs and larval mortality for the experimental plots of 0.125, 0.25 and $0.5\%$ treatments showed r=+0.83 and +0.85, respectively, and it seemed to be close correlation between the lethal effects on the embryonic and post-embryonic developments. (8) Since the $SC_{50}$ of the sterile eggs was $0.133\%$ and $SC_{50}$ of the larval mortality was $0.565\%$, it was considered that tile lethal factors expressed more in the egg stages than the larval stages. (9) The ratio of female to male in the $F_l$ adults showed 100 : 125, 100 : 108 and 100 : 124 for the plots of 0.125, 0.25 and $0.5\%$ treatments, respectively. And it n·as considered that the sex ratio distortions might occur with the higher concentrations. (10) When the F, males originated 1.on the eggs had been laid by p, in the period of 16-18 days after treatment, were crossed to normal females $(BC_1)$ and made sib matings $(F_2)$, the per cent sterile eggs of the $BC_1$ generation were 13.88 and $33.04\%$ , and were 31.01 and $38.73\%$ for the $F_2$generation with the plots of 0.0625 and $0.125\%$ treatment, respectively. And these seemed to be a results of the $F_1$ individuals are carrying some chromosomal aberrations (11) The larval mortality was the highest in the $F_2$ plot and followed the female backcross plot, and the least in the male backcrosses. (12) The proportions of 1st and 2nd instar larvae among the larval development at tile 17th day after oviposition were 10.98, 27.26, 32.98 and $15.73\%$ in the normal female $\times$ normal male, $F_1$ female$\times$normal male, normal $female \;\times F_1$ male and $female \;\times F_1$ male plots, respectively. It was considered that the larval development might be delayed by the treatment in the 2nd generation. (13) Per cent larval mortality and sterile eggs were greater in the $F_2$ sib mating plots $(F_3)$ than both of $F_2$ backcrosses. Therefore, it seemed that some of the recessive lethal mutations might affect in the further generations. (14) The sterility, induced by the treatment of chemosterilant, hempa, was considered as the result of the dominant lethal mutations due to chromosomal aberrations such as translocation and/or deletion. The effects of these lethal factors seemed to be inherited tip to 3rd generation after treatment.

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Improvement of Pregnancy Rate in Preimplantation Genetic Diagnosis with FISH Procedure by the Laboratory Optimization and Experiences (형광직접보합법을 이용한 착상전 유전진단 기법의 최적화와 경험 축적에 의한 임신율의 향상)

  • Lim, Chun-Kyu;Min, Dong-Mi;Lee, Hyoung-Song;Byun, Hye-Kyung;Park, So-Yeon;Ryu, Hyun-Mee;Kim, Jin-Young;Koong, Mi-Kyoung;Kang, Inn-Soo;Jun, Jin-Hyun
    • Clinical and Experimental Reproductive Medicine
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    • v.31 no.1
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    • pp.29-39
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    • 2004
  • Objectives: This study was performed to evaluate the laboratory system for successful PGD using fluorescence in situ hybridization (FISH) and the clinical outcome of PGD cycles in five years experiences. Methods: A total of 181 PGD-FISH cycles of 106 couples were performed, and diagnosed chromosome normality in the preimplantation embryos. The laboratory and clinical data were classified by the following optimization steps, and statistically analyzed. Phase I: Blastomere biopsy with two kinds of pipettes, removal of cytoplasmic proteins without treatment of pepsin and culture of biopsied embryos with single medium; Phase II: Blatomere biopsy with single pipette, removal of cytoplasmic proteins with pepsin and culture of biopsied embryos with single medium; Phase III: Blastomere biopsy with single pipette, removal of cytoplasmic proteins with pepsin and culture of biopsied embryos with sequential media. Results: A total of 3, 209 oocytes were collected, and 83.8% (2, 212/2, 640) of fertilization rate was obtained by ICSI procedure. The successful blastomere biopsies were accomplished in 98.6% (2, 043/2, 071) of embryos, and the successful diagnosis rate of FISH was 94.7% (1, 935/ 2, 043) of blastomeres from overall data. Embryo transfers with normal embryos were conducted in 93.9% (170/181) of started cycles. There was no difference in the successful rate of biopsy and diagnosis among Phase I, II and III. However, the pregnancy rate per embryo transfer of Phase III (38.8%, 26/67) was significantly (p<0.05) higher than those of Phase I (13.9%, 5/36) and Phase II (14.9%, 10/67). Conclusions: The laboratory optimization and experience for the PGD with FISH procedure can increase the pregnancy rate to 38.8% in the human IVF-ET program. Our facility of PGD with FISH provides the great possibility to get a normal pregnancy for the concerned couples by chromosomal aberrations.