MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION OF MICRODELETION SYNDROMS
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Date
2020
Authors
Uakhit, R.
Tolegen, N.
Bayanova, M.
Journal Title
Journal ISSN
Volume Title
Publisher
International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana
Abstract
Introduction: Microdeletion syndromes are an extensive group of diseases affecting various organs
and systems. These diseases are caused by deletions of small sections of chromosomes. Previously,
most microdeletion syndromes were described as pathologies of unknown origin and were not even
associated with “chromosomal breakdowns”, since it was not possible to conduct subtle and accurate
genetic diagnostics. Microdeletion and microduplication syndromes are defined as a group of clinically
recognisable disorders characterised by a small (< 5 Mb) deletion or duplication of a chromosomal segment
spanning multiple disease genes. Clinically well described syndromes, for which the involvement
of multiple disease genes has been established or is strongly suspected, such as: 1p36 deletion syndrome,
Wolf-Hirschhorn syndrome, Cri-du-Chat syndrome, Sotos syndrome, Saethre-Chotzen syndrome,
Williams-Beuren syndrome, Williams-Beuren duplication syndrome, Langer-Giedion syndrome, WAGR
syndrome, Prader-Willi syndrome, Angelman syndrome, Rubinstein-Taybi syndrome, Miller-Dieker syndrome,
Lissencephaly-1, Smith-Magenis syndrome, Potocki-Lupski syndrome, Alagille syndrome, Di-
George syndrome, 22q11.2microduplication syndrome, Phelan-McDermid syndrome.
Methods: MLPA (Multiplex Ligation-dependent Probe Amplification) is the go-to technique for studying
gene copy number variations (CNVs) associated with disease. The power of the technique lies in its
versatility: MLPA can be used to detect copy number changes in anything from complete chromosomes
to single exons. This SALSA MLPA probemix for detection microdeletion syndromes contains 52MLPA
probes with amplification products between 130 and 483 nucleotides (nt). The probes detect sequences
involved in a distinct subset of microdeletion and microduplication disorders.
Results: At the clinical diagnostic laboratory, examined 57 children with suspected microdeletion
syndrome. Among them, a heterozygous deletion was found of SNRPN-u5, SNRPN-CpGisl, UBE3A-10,
UBE3A-1genes that corresponds to Prader-Willi/Angelman syndrome, heterozygous deletion ( DQ=0.5)
CLTCL1-3, CDC45-1, GNB1L-8, DGCR8-2, ZNF74-2, MED15-10, SNAP29-3 genes (Di Georgia syndrome) and
ELN-4, ELN-6, ELN-27 heterozygous deletion of Williams-Beuren syndrome.
Conclusion: This diagnostic method allows you to detect microdeletions and microduplications, which
are often not noticeable with standard cytogenetic analysis.
Description
Keywords
microdeletion syndromes, MLPA, genetic diagnostics, microduplication disorders, Research Subject Categories::MEDICINE