Identification of copy number variations by array comparative genomic hybridization in multi-ethnic multiple myeloma patients
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ABSTRACT: The aim of this study is to identify copy number variations in multiple myeloma patients from the 3 major ethnic groups (Malays, Chinese and Indians) in Malaysia. Identification of common chromosomal aberrations and their degree of penetrance is possible by comparing the microarray data across all the samples under studied. 63 multiple myeloma samples were analyzed. Each sample was compared against normal control (match with patient's race and gender), which was pooled from ten healthy individuals.
Project description:The aim of this study is to determine copy number variations in the multiple myeloma patients, which were positive for BCL1/JH t(11;14)(q13;q32) translocation. Identification of common chromosomal aberrations representing the t(11;14)(q13;q32) subtype is possible by comparing the microarray data across all the samples under studied. Eight multiple myeloma samples were analyzed. Each sample was compared against normal control (match with patient's race and gender), which was pooled from ten healthy individuals.
Project description:The aim of this study is to identify copy number variations in multiple myeloma patients from the 3 major ethnic groups (Malays, Chinese and Indians) in Malaysia. Identification of common chromosomal aberrations and their degree of penetrance is possible by comparing the microarray data across all the samples under studied.
Project description:The Malaysian Node of the Human Variome Project Database (MyHVPDb) is a country specific database of human variant and gene mutation that was established in 2011. This ethnic specific mutation and variation databases are being continuously updated, recording extensive information over the genetic heterogeneity of the Malaysian ethnic groups. The database comprises of SNP Database and Mutation Database. The SNP database has stored 291718 SNPs that was obtained by genotyping the SNPs of 101 healthy individuals from six Malay sub-ethnic groups which consist of Malay Kelantan, Malay Banjar, Malay Kedah, Malay Jawa, Malay Bugis and Malay Champa.
Project description:In this study, we used microarray analysis to investigate molecular differences underlying the determination of pigmentation in various skin types, and we used immunohistochemistry to validate the expression patterns of several interesting targets that were identified. Whole skin gene expression profile were investigated in three ethnic groups:1) Caucasian 2)Asian 3)African. In each group, 4 mm whole skin punch biopsies were taken from forearm of 10 subjects, and gene expression level were tested by agilent whole human genome microarray. Samples with mRNA degraded: African_skin_03, Asian_skin_02, Asian_skin_06, and Caucasian_skin_7.
Project description:We analyzed the 10q22 amplification in advanced prostate cancer and subjected the genes located in the common amplified region to an RNAi screen. We found vinculin as the most promising candidate gene and analyzed its protein expression on more than 400 prostate cancers by using the tissue micrarray (TMA) technology. We discovered a strong correlation between amplification of the vinculin gene and increased protein expression. Further, vinculin protein expression was strongly associated with increased tumor cell proliferation. We isolated DNA from four 10q22 amplified cell lines (PC-3, MFM-223, SK-BR-3, ME-180). Genomic DNA was digested with the restriction enzymes RSA I / ALU I and then labeled with Cy5 using a Klenow-based commercial kit (Invitrogen). Each sample was hybridized with a pooled normal (46,XX) reference (Promega) to Agilent 244k CGH arrays. This experiment allowed us to define the common amplified region of the 10q22 amplification.
Project description:Identification of chromosomal deletion and duplications in childhood acute lymphoblastic leukemia with t(12;21). This study was performed to correlate clinical parameters with chromosomal aberrations by array-CGH and to identify other potential novel cancer genes involved in leukaemia. In brief, PALL-6 was a Malay male diagnosed with B-ALL, had undergone a remission but late relapse and passed away. He was assessed under medium risk. PALL-7 is a Malay male and has a medium risk assessment, and is currently in remission. PALL-8 is a Malay female and has a medium risk assessment, and is currently in remission. PALL-9 is a Chinese male and has a high risk assessment, and is currently in remission. PALL-10 is a Malay male and has a standard risk assessment, had a relapse but is currently in remission. PALL-11 was a Malay male and had a medium risk assessment, but died during transplant. array-CGH was carried out on 11 cases of childhood acute lymphoblastic leukemia with t(12;21) diagnosed by molecular and FISH techniques. Commercial male and female genomic DNA were used as the references.
Project description:The Malaysian Node of the Human Variome Project Database (MyHVPDb) is a country specific database of human variant and gene mutation that was established in 2011. This ethnic specific mutation and variation databases are being continuously updated, recording extensive information over the genetic heterogeneity of the Malaysian ethnic groups. The database comprises of SNP Database and Mutation Database. The SNP database has stored 291718 SNPs that was obtained by genotyping the SNPs of 101 healthy individuals from six Malay sub-ethnic groups which consist of Malay Kelantan, Malay Banjar, Malay Kedah, Malay Jawa, Malay Bugis and Malay Champa. Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from blood samples.
Project description:The aim of the project was to detect genomic regions that were normal, duplicated or deleted in these cell lines for transcription factors NFKBp50, NFkBp65, HIF1a and FAS gene which we studied. It is not clear the effects of copy number variations on allele specific assembly or disruption of master regulator transcription factors. Thus, the CNV analysis verified that 16HBE cell line, though transformed with defective simian virus, had normal copy number variations thus was a suitable source for nuclear extract to study the afore mentioned TFs. T84 showed duplications and large genomic deletions for TFs: NFkBp50 and p65. 16HBE and T84 are both epithelial cell lines type from human. 16HBE is derived from bronchial epithelium, while the T84 is derived from the colon carcinoma.
Project description:Stable ethnic variations in DNA methylation are associated with genetic polymorphisms. This experiment was updated on 21st July 2012. The normalized data file was updated.