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Fulltext Antioxidants in aqueous extract of Myristica fragrans (Houtt.) suppress mitosis and cyclophosphamide-induced chromosomal aberrations in Allium cepa L. cells

Akinboro A, Mohamed KB, Asmawi MZ, Sulaiman SF, Sofiman OA

J Zhejiang Univ Sci B, 2011 Nov;12(11):915-22.
PMID: 22042656 DOI: 10.1631/jzus.B1000315

In this study, freeze-dried water extract from the leaves of Myristica fragrans (Houtt.) was tested for mutagenic and antimutagenic potentials using the Allium cepa assay. Freeze-dried water extract alone and its combination with cyclophosphamide (CP) (50 mg/kg) were separately dissolved in tap water at 500, 1000, 2000, and 4000 mg/kg. Onions (A. cepa) were suspended in the solutions and controls for 48 h in the dark. Root tips were prepared for microscopic evaluation. 2,2-Diphenyl-1-picrylhydrazyl (DPPH) free radicals' scavenging power of the extract was tested using butylated hydroxyanisole (BHA) and butylated hydroxytoluene (BHT) as standards. Water extract of Myristica fragrans scavenged free radicals better than BHA, but worse than BHT. The extract alone, as well as in combination with CP suppressed cell division, and induced chromosomal aberrations that were insignificantly different from the negative control (P ≤ 0.05). However, cytotoxic and mutagenic actions of CP were considerably suppressed. The observed effects on cell division and chromosomes of A. cepa may be principally connected to the antioxidant properties of the extract. The obtained results suggest mitodepressive and antimutagenic potentials of water extract of the leaves of M. fragrans as desirable properties of a promising anticancer agent.

Matched MeSH terms: Chromosome Aberrations/chemically induced; Chromosome Aberrations/drug effects*
Genotoxic effect of Catha edulis (khat) crude extract after sub-chronic administration in rats

Al-Zubairi A, Ismail P, Pei Pei C, Rahmat A

Environ Toxicol Pharmacol, 2008 May;25(3):298-303.
PMID: 21783866 DOI: 10.1016/j.etap.2007.10.032

The aim of this study was to evaluate the genotoxic effects of a crude extract of khat (Catha edulis, Forsk) leaves in rats. Two groups were fed khat crude extract, 1000 and 2000mg/kg body weight, for 90 days and were compared with a control group. The alkaline (pH>13) version of comet assay was used in this study. However, no previous published work has been undertaken and showed the effect of khat on DNA migration in the comet assay. To compare the comet assay results with another genetic endpoint, blood samples were analyzed for chromosomal aberrations. These results showed no DNA damage detected using comet assay in both the khat treated groups, while the results of chromosomal aberrations assay showed a significant increase (P<0.05) in the 2000mg/kg body weight treated group compared to the control group.

Matched MeSH terms: Chromosome Aberrations
Fulltext Hereditary ovalocytosis in Malays

George E, Mohandas N, Duraisamy G, Adeeb N, Zainuddin ZA, Teng MS, et al.

Med J Malaysia, 1988 Dec;43(4):327-31.
PMID: 3241598
Matched MeSH terms: Chromosome Aberrations
Fulltext Concomitant t(8;21) and trisomy 4 in a patient with acute myeloid leukemia (aml)

Phan, CL, Ong, TC, Chang, KM, Zubaidah, Z., Puteri Jamilatul, N.M.B.

Medicine & Health, 2010;5(1):45-48.
MyJurnal

The t(8;21)(q22;q22) is a frequently occurring aberration in acute myeloid leukemia (AML) (18-20%) and usually correlate with French-America-British (FAB) M2 subtype. Several studies showed that patients carrying this abnormality demonstrated good response to standard chemotherapy but also have a high incidence of disease relapse. Trisomy 4 is a rare and specific chromosomal abnormality occurring in AML M2 or M4 of the FAB subtypes. We report a case of a 33-year-old female with an apparently clinical and hematologic diagnosis of acute promyelocytic leukemia (APL) in whom cytogenetic analysis revealed an abnormal karyotype with trisomy 4, in addition to t(8;21). Trisomy 4 and t(8;21) in a patient with AML is rare. The significance of t(8;21) with trisomy 4 in AML are unclear but patients bearing this abnormality are associated with a poor prognosis.

Matched MeSH terms: Chromosome Aberrations
Nonclonal Chromosomal Aberrations in Childhood Leukemia Survivors

Chin TF, Ibrahim K, Thirunavakarasu T, Azanan MS, Oh L, Lum SH, et al.

Fetal Pediatr Pathol, 2018 Aug;37(4):243-253.
PMID: 30273079 DOI: 10.1080/15513815.2018.1492054

BACKGROUND: Survivors of childhood cancer are at risk of developing a second malignancy. One possible mechanism for neoplastic transformation of cells is through induction of persistent genomic instability. This study aims to seek evidence of chromosomal instability in long-term childhood leukemia survivors (CLS) in one of the largest pediatric academic oncology centers in South East Asia.
METHODS: 50 asymptomatic (subjects have remained leukemia-free since treatment cessation) CLS and 50 healthy controls were recruited in this cross-sectional study. Of 50 CLS, 44 had acute lymphoblastic leukemia and 6 had acute myeloid leukemia. G-banded karyotyping was performed on unstimulated peripheral blood leukocytes of all subjects.
RESULTS: CLS had significantly higher occurrence of karyotypic abnormalities compared to controls. Five CLS harbored six nonclonal abnormalities (mostly aneuploidy) while none were found in controls.
CONCLUSION: Subpopulations with nonclonal chromosomal aberrations were present in peripheral blood leukocytes of our cohort of childhood leukemia long-term survivors.

Matched MeSH terms: Chromosome Aberrations
Array comparative genomic hybridization analysis identified the chromosomal aberrations and putative genes involved in Prostate Tumorigenesis of Malaysian men

Nenny Noorina Saaid, Reena Rahayu Md Zin, Siti Aishah Md Ali, Sharifah Noor Akmal Syed Hussain, Zulkifli Zainuddin, Zubaidah Zakaria

Sains Malaysiana, 2014;43:1317-1326.

The identification of chromosomal aberrations in prostate cancer has been widely studied with several known oncogenes and tumor suppressor genes have successfully been discovered. The most frequent aberrations detected in western population were losses in chromosome 5q, 6q, 8p, 13q, 16q, 17p, 18q and gains of 7p/q and 8q. The purpose of this study was to determine the chromosomal aberrations among Malaysian men of Southeast Asia population and discover those potential genes within that chromosomal aberrant region. Thirty-six formalin-fixed paraffin embedded specimens consist of eight organ-confined prostate cancer cases, five with capsular invasion, 14 showed metastasis and nine cases had no tumor stage recorded, were analyzed by array CGH technique. Chromosomal losses were frequently detected at 4q, 6q, 8p, 13q, 18q while gains at 7q, 11q, 12p, 16q and 17q. Gain of 16q24.3 was statistically significant with tumor size. Gains of 6q25.1 and Xq12 as well as losses of 3p13-p1.2 and 13q33.1-q33.3 were significantly correlated with Gleason grade whereas 12p13.31 gain was associated with bone metastasis. Several potential genes have also been found within that aberrant region which is myopodin (4q26-q27), ROBO1 (3p13-p11.2), ERCC5 (13q33.1-q33.3) and CD9 (12p13.31), suggesting that these genes may play a role in prostate cancer progression. The chromosomal aberrations identified by array CGH analysis could provide important clues to discover potential genes associated with prostate tumorigenesis of Malaysian men.

Matched MeSH terms: Chromosome Aberrations
Whole-Exome Sequencing of ETV6/RUNX1 in Four Childhood Acute Lymphoblastic Leukaemia Cases

Zakaria Z, Othman N, Ismail A, Kamaluddin NR, Esa E, Abdul Rahman EJ, et al.

Asian Pac J Cancer Prev, 2017 04 01;18(4):1169-1175.
PMID: 28548470

Background: ETV6/RUNX1 gene fusion is the most frequently seen chromosomal abnormality in childhood acute
lymphobastic leukamia (ALL). However, additional genetic changes are known to be required for the development of
this type of leukaemia. Therefore, we here aimed to assess the somatic mutational profile of four ALL cases carrying the
ETV6/RUNX1 fusion gene using whole-exome sequencing. Methods: DNA was isolated from bone marrow samples
using a QIAmp DNA Blood Mini kit and subsequently sequenced using the Illumina MiSeq system. Results: We
identified 12,960 to17,601 mutations in each sample, with a total of 16,466 somatic mutations in total. Some 15,533
variants were single nucleotide polymorphisms (SNPs), 129 were substitutions, 415 were insertions and 389 were
deletions. When taking into account the coding region and protein impact, 1,875 variants were synonymous and 1,956
were non-synonymous SNPs. Among non-synonymous SNPs, 1,862 were missense, 13 nonsense, 35 frameshifts, 11
nonstop, 3 misstart, 15 splices disrupt and 17 in-frame indels. A total of 86 variants were located in leukaemia-related
genes of which 32 variants were located in the coding regions of GLI2, SP140, GATA2, SMAD5, KMT2C, CDH17,
CDX2, FLT3, PML and MOV10L1. Conclusions: Detection and identification of secondary genetic alterations are
important in identifying new therapeutic targets and developing rationally designed treatment regimens with less
toxicity in ALL patients.

Matched MeSH terms: Chromosome Aberrations
Fulltext Differential Analysis of Genetic, Epigenetic, and Cytogenetic Abnormalities in AML

Islam M, Mohamed Z, Assenov Y

Int J Genomics, 2017;2017:2913648.
PMID: 28713819 DOI: 10.1155/2017/2913648

Acute myeloid leukemia (AML) is a haematological malignancy characterized by the excessive proliferation of immature myeloid cells coupled with impaired differentiation. Many AML cases have been reported without any known cytogenetic abnormalities and carry no mutation in known AML-associated driver genes. In this study, 200 AML cases were selected from a publicly available cohort and differentially analyzed for genetic, epigenetic, and cytogenetic abnormalities. Three genes (FLT3, DNMT3A, and NPMc) are found to be predominantly mutated. We identified several aberrations to be associated with genome-wide methylation changes. These include Del (5q), T (15; 17), and NPMc mutations. Four aberrations-Del (5q), T (15; 17), T (9; 22), and T (9; 11)-are significantly associated with patient survival. Del (5q)-positive patients have an average survival of less than 1 year, whereas T (15; 17)-positive patients have a significantly better prognosis. Combining the methylation and mutation data reveals three distinct patient groups and four clusters of genes. We speculate that combined signatures have the better potential to be used for subclassification of AML, complementing cytogenetic signatures. A larger sample cohort and further investigation of the effects observed in this study are required to enable the clinical application of our patient classification aided by DNA methylation.

Matched MeSH terms: Chromosome Aberrations
Fulltext X-treme loss of sequence diversity linked to neo-X chromosomes in filarial nematodes

Mattick J, Libro S, Bromley R, Chaicumpa W, Chung M, Cook D, et al.

PLoS Negl Trop Dis, 2021 Oct;15(10):e0009838.
PMID: 34705823 DOI: 10.1371/journal.pntd.0009838

The sequence diversity of natural and laboratory populations of Brugia pahangi and Brugia malayi was assessed with Illumina resequencing followed by mapping in order to identify single nucleotide variants and insertions/deletions. In natural and laboratory Brugia populations, there is a lack of sequence diversity on chromosome X relative to the autosomes (πX/πA = 0.2), which is lower than the expected (πX/πA = 0.75). A reduction in diversity is also observed in other filarial nematodes with neo-X chromosome fusions in the genera Onchocerca and Wuchereria, but not those without neo-X chromosome fusions in the genera Loa and Dirofilaria. In the species with neo-X chromosome fusions, chromosome X is abnormally large, containing a third of the genetic material such that a sizable portion of the genome is lacking sequence diversity. Such profound differences in genetic diversity can be consequential, having been associated with drug resistance and adaptability, with the potential to affect filarial eradication.

Matched MeSH terms: Chromosome Aberrations
Thyroid autoimmunity and autoimmune thyroid disease in Malaysian girls with Turner syndrome: An understudied population

Lee YL, Zaini AA, Idris AN, Abdullah RA, Wong JS, Hong JS, et al.

J Paediatr Child Health, 2023 Jul;59(7):879-884.
PMID: 37066819 DOI: 10.1111/jpc.16405

AIMS: Knowledge on the spectrum of thyroid disorders amongst Turner syndrome (TS) patients in Southeast Asia is limited. This study aimed to evaluate the prevalence of thyroid autoimmunity, the spectrum of autoimmune thyroid disease and association with age and karyotype amongst Malaysian TS girls.
METHODS: A cross-sectional study was conducted at 11 paediatric endocrine units in Malaysia. Blood samples for antithyroglobulin antibodies, antithyroid peroxidase antibodies and thyroid function test were obtained. In patients with pre-existing thyroid disease, information on clinical and biochemical thyroid status was obtained from medical records.
RESULTS: Ninety-seven TS patients with a mean age of 13.4 ± 4.8 years were recruited. Thyroid autoimmunity was found in 43.8% of TS patients. Nineteen per cent of those with thyroid autoimmunity had autoimmune thyroid disease (Hashimoto thyroiditis in 7.3% and hyperthyroidism in 1% of total population). Patients with isochromosome X and patients with 45,X mosaicism or other X chromosomal abnormalities were more prone to have thyroid autoimmunity compared to those with 45,X karyotype (OR 5.09, 95% CI 1.54-16.88, P = 0.008 and OR 3.41, 95% CI 1.32-8.82, P = 0.01 respectively). The prevalence of thyroid autoimmunity increased with age (33.3% for age 0-9.9 years; 46.8% for age 10-19.9 years and 57.1% age for 20-29.9 years) with autoimmune thyroid disease detected in 14.3% during adulthood.
CONCLUSION: Thyroid autoimmunity was significantly associated with the non 45,X karyotype group, particularly isochromosome X. Annual screening of thyroid function should be carried out upon diagnosis of TS until adulthood with more frequent monitoring recommended in the presence of thyroid autoimmunity.

Matched MeSH terms: Chromosome Aberrations
Complex karyotypic abnormalities in a case of acute myeloid leukaemia--M4Eo

Leong CF, Azma RZ, Cheong SK, Salwati S, Sharifah NA

Malays J Pathol, 2005 Jun;27(1):45-50.
PMID: 16676693

A 25-year-old man was referred to Hospital UKM with a 2-week history of fever, productive cough and loss of appetite. Physical examination revealed an ill-looking, tachypnoeic young man. No obvious lymphadenopathy or organomegaly was noted. Examination of the respiratory system revealed right pleural effusion. Full blood picture demonstrated leukocytosis with 90% blasts, and bone marrow examination confirmed the diagnosis of acute myeloid leukemia (AML) French-American-British (FAB) classification of M4 with eosinophilia. His chromosome karyotyping showed complex karyotypic abnormalities. Cytological examination of the pleural fluid demonstrated numerous blast cells indicating leukemic infiltration of the lungs, which is a rare presentation in AML. He was then started on induction chemotherapy with intravenous daunorubicin and cytarabine. In the midst of treatment, he developed an episode of seizure and cerebro-spinal fluid cytology confirmed central nervous system (CNS) leukaemic infiltration. Additional intrathecal methotraxate was given. Repeat bone marrow examination done on day 15 of chemotherapy showed persistence of excess blasts indicating refractory AML. He was then reinduced with high dose cytarabine but to no avail. The disease progressed and he succumbed about 8 weeks after the initial diagnosis was made. We highlight here a case of AML-M4Eo with complex karyoyptic abnormalities presenting with leukaemic infiltration of the lungs and CNS which had imparted a bad prognosis for this subtype of AML, AML-M4Eo.

Matched MeSH terms: Chromosome Aberrations*
18q21 Rearrangement and trisomy 3 in extranodal B-cell lymphomas: a study using a fluorescent in situ hybridisation technique

Tai YC, Tan JA, Peh SC

Virchows Arch., 2004 Nov;445(5):506-14.
PMID: 15365830

t(11;18)(q21;q21) Translocation and trisomy 3 are the most common chromosomal aberrations reported in low-grade mucosa-associated lymphoid tissue (MALT) lymphoma. The current study aims to investigate the frequency of these chromosomal aberrations in a series of 52 extranodal B-cell lymphomas. The tumours were categorised into three histological grades: grade 1 (low-grade lymphoma of MALT type), grade 2 [diffuse large B-cell lymphoma (DLBCL) with MALT component] and grade 3 (DLBCL without MALT component). Fluorescence in situ hybridisation analyses on paraffin tissue sections were performed using a locus-specific probe for the 18q21 region and a centromeric probe for chromosome 3. The 18q21 rearrangement was detected in 9 of 40 (23%) cases, including 7 of 23 (30%) grade-1 and 2 of 11 (18%) grade-3 tumours. Amplification of the 18q21 region was detected in 10 of 40 (25%) cases, and trisomy 3 was detected in 9 of 34 (26%) cases. Amplification of the 18q21 region may be an important alternative pathogenetic pathway in MALT lymphoma and was found almost exclusively in tumours without 18q21 rearrangement. Our study showed that tumours with 18q21 rearrangement and 18q21 amplification develop along two distinct pathways, and the latter was more likely to transform into high-grade tumours upon acquisition of additional genetic alterations, such as trisomy 3. Trisomy 3 was more frequently found in coexistence with 18q21 abnormalities, suggesting that it was more likely to be a secondary aberration.

Matched MeSH terms: Chromosome Aberrations*
Fulltext Somatic copy-neutral loss of heterozygosity and copy number abnormalities in Malaysian sporadic colorectal carcinoma patients

Yam YY, Hoh BP, Othman NH, Hassan S, Yahya MM, Zakaria Z, et al.

Genet. Mol. Res., 2013;12(1):319-27.
PMID: 23420356 DOI: 10.4238/2013.February.7.1

Colorectal cancer is one of the most common cancers in many countries, including Malaysia. The accumulation of genomic alterations is an important feature of colorectal carcinogenesis. A better understanding of the molecular events underlying the stages of colorectal carcinogenesis might be helpful in the detection and management of the disease. We used a commercially available single-nucleotide polymorphism genotyping array to detect both copy number abnormalities (CNAs) and copy-neutral loss of heterozygosity (LOH) in sporadic colorectal carcinomas. Matched tumor and normal tissues of 13 colorectal carcinomas (Dukes' stages A-D) were analyzed using a 250K single nucleotide polymorphism array. An additional assay was performed to determine the microsatellite instability status by using the National Cancer Institute-recommended BAT-26 panel. In general, copy number gain (92.3%) was most common, followed by copy number loss (53.8%) and copy-neutral LOH (46.2%). Frequent CNAs of gains and losses were observed on chromosomes 7p, 8, 13q, 17p, 18q, and 20q, and copy-neutral LOH was observed on chromosomes 2, 6, 12, 13q, 14q, 17, 20p, 19q, and 22q. Even though genomic alterations are associated with colorectal cancer progression, our results showed that DNA CNAs and copy-neutral LOH do not reflect disease progression in at least 50% tumors. Copy-neutral LOH was observed in both early and advanced tumors, which favors the involvement of these genomic alterations in the early stages of tumor development.

Matched MeSH terms: Chromosome Aberrations*
Radiation-induced chromosomal aberrations among TENORM workers: amang- and ilmenite-processing workers of Malaysia

Kandar MZ, Bhari IB

Mutat Res, 1996 Apr 13;351(2):157-61.
PMID: 8622709

The usefulness of peripheral human lymphocytes as a bioindicator for ionizing radiation effect was tested in a survey of Malaysian workers in two industries producing technologically enhanced naturally occurring radioactive material (TENORM). Workers in amang processing plants who have been with the plant for an average of 12.9 years and who were exposed to radioactive dust showed significantly higher frequencies of chromosomal aberration compared to control and even ilmenite-processing workers. Such frequency was not significantly different between workers in ilmenite-processing plant and control. The differences in duration of employment, occupational hygiene, together with the difference in the percentage of 'old' and 'new' aberrations among the groups sampled were used to explain the high chromosomal aberration frequency among amang workers. The presence of significantly high chromosome damage (dicentrics and fragments) in workers who were chronically exposed to doses below 50 mSv per year or 20 mSv per year averaged over 5 years (ICRP, 1991) provided additional experimental data on the dose-effect relationship at these low-dose ranges. The results confirm the usefulness of using human lymphocytes as a bioindicator for chronic exposure to ionizing radiation and in cases where physical radiation detectors are not available.

Matched MeSH terms: Chromosome Aberrations*
Mutagenicity and genotoxicity effects of Lignosus rhinocerotis mushroom mycelium

Chen TI, Zhuang HW, Chiao YC, Chen CC

J Ethnopharmacol, 2013 Aug 26;149(1):70-4.
PMID: 23773827 DOI: 10.1016/j.jep.2013.06.001

Lignosus rhinocerotis mushroom is widely used as traditional medicine and as soup ingredient in Malaysia and Hong Kong. Its sclerotium is the part of edibility and is traditionally used for the treatment of fever, cough, asthma and cancer. In view of its safety profile, very little information is found in scientific literature.

Matched MeSH terms: Chromosome Aberrations/chemically induced
Ethnic differences in the frequency of subtypes of childhood acute lymphoblastic leukemia: results of the Malaysia-Singapore Leukemia Study Group

Ariffin H, Chen SP, Kwok CS, Quah TC, Lin HP, Yeoh AE

J Pediatr Hematol Oncol, 2007 Jan;29(1):27-31.
PMID: 17230064

Childhood acute lymphoblastic leukemia (ALL) is clinically heterogeneous with prognostically and biologically distinct subtypes. Although racial differences in frequency of different types of childhood ALL have been reported, many are confounded by selected or limited population samples. The Malaysia-Singapore (MA-SPORE) Leukemia Study Group provided a unique platform for the study of the frequency of major subgroups of childhood ALL in a large cohort of unselected multiethnic Asian children. Screening for the prognostically important chromosome abnormalities (TEL-AML1, BCR-ABL, E2A-PBX1, and MLL) using multiplex reverse-transcription polymerase chain reaction was performed on 299 consecutive patients with ALL at 3 study centers (236 de novo, 63 at relapse), with the ethnic composition predominantly Chinese (51.8%) and Malay (34.8%). Reverse-transcription polymerase chain reaction was successful in 278 (93%) of cases screened. The commonest fusion transcript was TEL-AML1 (19.1%) followed by BCR-ABL (7.8%), MLL rearrangements (4.2%), and E2A-PBX1 (3.1%). Chinese have a significantly lower frequency of TEL-AML1 (13.3% in de novo patients) compared with Malays (22.2%) and Indians (21.7%) (P=0.04). Malays have a lower frequency of T-ALL (6.2%) compared with the Chinese and Indians (9.8%). Both Malays (7.4%) and Chinese (5.0%) have significantly higher frequency of BCR-ABL compared with the Indian population (P<0.05) despite a similar median age at presentation. Our study suggests that there are indeed significant and important racial differences in the frequency of subtypes of childhood ALL. Comprehensive subgrouping of childhood ALL may reveal interesting population frequency differences of the various subtypes, their risk factors and hopefully, its etiology.

Matched MeSH terms: Chromosome Aberrations*
Cytogenetic abnormalities in de novo acute myeloid leukemia in adults: relation to morphology, age, sex and ethnicity - a single center study from Singapore

Enjeti AK, Tien SL, Sivaswaren CR

Hematol. J., 2004;5(5):419-25.
PMID: 15448668

Cytogenetic analysis performed at diagnosis is considered to be the most valuable prognostic factor in acute myeloid leukemia (AML). Large systematic studies of cytogenetic abnormalities in AML patients from Southeast Asia are not available. The karyotypic patterns in AML patients from a single center in Singapore were studied and compared with reports from other regions of the world to identify possible geographic heterogeneity.

Matched MeSH terms: Chromosome Aberrations*
Fulltext Genome wide analysis of chromosomal alterations in oral squamous cell carcinomas revealed over expression of MGAM and ADAM9

Vincent-Chong VK, Anwar A, Karen-Ng LP, Cheong SC, Yang YH, Pradeep PJ, et al.

PLoS One, 2013;8(2):e54705.
PMID: 23405089 DOI: 10.1371/journal.pone.0054705

Despite the advances in diagnosis and treatment of oral squamous cell carcinoma (OSCC), mortality and morbidity rates have not improved over the past decade. A major drawback in diagnosis and treatment of OSCC is the lack of knowledge relating to how genetic instability in oral cancer genomes affects oral carcinogenesis. Hence, the key aim of this study was to identify copy number alterations (CNAs) that may be cancer associated in OSCC using high-resolution array comparative genomic hybridization (aCGH). To our knowledge this is the first study to use ultra-high density aCGH microarrays to profile a large number of OSCC genomes (n = 46). The most frequently amplified CNAs were located on chromosome 11q11(52%), 2p22.3(52%), 1q21.3-q22(54%), 6p21.32(59%), 20p13(61%), 7q34(52% and 72%),8p11.23-p11.22(80%), 8q11.1-q24.4(54%), 9q13-q34.3(54%), 11q23.3-q25(57%); 14q21.3-q31.1(54%); 14q31.3-q32.33(57%), 20p13-p12.3(54%) and 20q11.21-q13.33(52%). The most frequently deleted chromosome region was located on 3q26.1 (54%). In order to verify the CNAs from aCGH using quantitative polymerase chain reaction (qPCR), the three top most amplified regions and their associated genes, namely ADAM5P (8p11.23-p11.22), MGAM (7q34) and SIRPB1 (20p13.1), were selected in this study. The ADAM5P locus was found to be amplified in 39 samples and deleted in one; MGAM (24 amplifications and 3 deletions); and SIRPB1 (12 amplifications, others undetermined). On the basis of putative cancer-related annotations, two genes, namely ADAM metallopeptidase domain 9 (ADAM9) and maltase-glucoamylase alpha-glucosidase (MGAM), that mapped to CNA regions were selected for further evaluation of their mRNA expression using reverse transcriptase qPCR. The over-expression of MGAM was confirmed with a 6.6 fold increase in expression at the mRNA level whereas the fold change in ADAM9 demonstrated a 1.6 fold increase. This study has identified significant regions in the OSCC genome that were amplified and resulted in consequent over-expression of the MGAM and ADAM9 genes that may be utilized as biological markers for OSCC.

Matched MeSH terms: Chromosome Aberrations*
Evaluation of Tualang honey as a supplement to fetal bovine serum in cell culture

Kannan TP, Ali AQ, Abdullah SF, Ahmad A

Food Chem Toxicol, 2009 Jul;47(7):1696-702.
PMID: 19394390 DOI: 10.1016/j.fct.2009.04.020

The aim of this study was to evaluate Tualang honey as a supplement to fetal bovine serum in cell cultures using MTT assay, chromosome aberration test and gene expression analyses. The MTT assay showed the highest percentage of cell proliferation (105.3% increment than control) of human osteoblast cell line (CRL 1543) in 0.0195% honey in Dulbecco's modified eagle medium supplemented with 10% fetal bovine serum and 1% penicillin/streptomycin. There was enhanced cell proliferation corresponding to the decrease in concentrations of honey as indicated by the mitotic index values when the osteoblast cell line was incubated at 37 degrees C for 48 hours. There were no chromosome aberrations both in the honey treated as well as distilled water treated (negative control) cell lines. In the case of gene expression analyses, fibroblast cell lines (CCL 171) were treated with honey (0.0195%) for 24 and 48 hours separately. Though there was over expression for the bcl-xl gene at both 24 and 48 hours, under expression for bcl-xs gene at 24 hours and over expression at 48 hours and under expression for both c-myc and p53 genes at both 24 and 48 hours, none of them were statistically significant in altering the expression of mRNA.

Matched MeSH terms: Chromosome Aberrations/chemically induced
Fulltext Familial complex chromosomal rearrangement in a dysmorphic child with global developmental delay

Ngim CF, Keng WT, Ariffin R

Singapore Med J, 2011 Oct;52(10):e206-9.
PMID: 22009409

We report the unusual case of a dysmorphic child with global developmental delay secondary to a familial complex chromosomal rearrangement (CCR). His chromosomal analysis using G-banding and dual colour fluorescence in situ hybridisation with whole chromosome paint revealed a supernumerary marker chromosome as a result of malsegregation of a familial CCR involving chromosomes 7, 12 and 14. The balanced form of this familial CCR was also carried by the patient's mother and maternal grandmother, both of whom had a history of recurrent spontaneous abortions, as well as his maternal uncle, who was infertile. To the best of our knowledge, this is the first reported case of familial CCR involving chromosomes 7, 12 and 14. This case also highlights the importance of chromosomal analysis in children with dysmorphism and developmental delay as well as in adults who suffer from recurrent spontaneous abortions or infertility.

Matched MeSH terms: Chromosome Aberrations*

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