Cytogenomic Profiling of Chronic Lymphocytic Leukaemia Patients Using DNA Microarray
https://doi.org/10.47836/mjmhs.19.3.21
- Author:
Wan Norizzati Wan Mohamad Zamri
1
;
Nazihah Mohd Yunus
1
;
Ahmad Aizat Abdul Aziz
1
;
Mohamad Ros Sidek
1
;
Noratifah Mohd. Adam
1
;
Sarina Sulong
1
Author Information
1. Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kota Bharu, Kelantan
- Publication Type:Journal Article
- Keywords:
Chronic lymphocytic leukaemia, Chromosomal aberrations, Cryptic aberration, DNA microarray
- From:Malaysian Journal of Medicine and Health Sciences
2023;19(No.3):160-170
- CountryMalaysia
- Language:English
-
Abstract:
Introduction: Chronic lymphocytic leukaemia (CLL) is the most frequent adult leukaemia in the Western world. The
clinical presentation varies greatly, from very indolent cases to those with aggressive and fast advancing disease.
This variation has significant implications for clinical approaches, therapeutic tactics, and, ultimately, survival durations from diagnosis. Acquired chromosomal aberrations play a key role in CLL aetiology. Due to difficulty to obtain
abnormal metaphases for analysis, few methods such as fluorescence in-situ hybridization (FISH) and multiplex
ligation-dependent probe assay (MLPA) were employed to detect chromosomal aberration however the methods are
limited to specific locus only. Thus, this study is aimed to detect the chromosomal aberrations using DNA microarray platform. Methods: In this retrospective study, DNA archive obtained from 7 CLL patients which collected at
diagnosis and subjected to Affymetrix CytoScan® 750K single nucleotide polymorphism (SNP) array following the
manufacture procedure. The raw data obtained were analysed using the Chromosome Analysis Suite (ChAS) software (Affymetrix) using annotations of genome version GRCh38 (hg38). Result: Out of 7 patients, 4 of them showing
deletion of 13q while 3 of them showing deletion of 14q in various region . Some of the deleted loci were too small
(0.42-0.6Mb) to be detected by conventional cytogenetic analysis (CCA). There was also the presence of additional
chromosomal aberrations that could be missed by CCA, FISH, or MLPA due to cryptic deletion or duplication that
was as small as 0.4MB in size. Conclusion: The present study showed that low resolution chromosomal aberration
was able to be detected using DNA microarray platform in comparison to CCA, FISH and MLPA.
- Full text:11.2023my1521.pdf