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SM ISO690:2012 ŢURCAN, Doina. Effective use of multiplexPCR and quantitativePCR in diagnosis of Duchenne muscular Dystrophy. In: Viitorul ne aparține, Ed. 6, 6-7 octombrie 2016, Chișinău. Chișinău, Republica Moldova: Universitatea Academiei de Ştiinţe a Moldovei, 2016, Ediția 6, p. 41. ISBN 978-9975-3036-5-1. |
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Viitorul ne aparține Ediția 6, 2016 |
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Conferința "Viitorul ne aparține" 6, Chișinău, Moldova, 6-7 octombrie 2016 | ||||||
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Duchenne muscular dystrophy (DMD)is an X-linked recessive inheritedmuscle-wasting disease characterised primarily byprogressive weakness and atrophy of the skeletaland cardiac muscle. It is one of the most commonMendelian disorders, occurring in all population groups with abirth prevalence of approximately 1/3.500 males(Emery, 1991). The disease gene-dystrophin localises to the cell membrane in muscle cellsand bindsthe protein actin.The gene isextremely large, spanning 2 400 kb of genomic DNA and comprising79 exons which encode a 14 kb transcript. Approximately 65-70% of DMD patients show intragenic deletions of one or several exons of the gene. Most of the mutations are located at the proximal (exon 3-7) and central (exon 45-52) regions of the gene (Prior, 2005).A small proportion of the mutations (6%) involve duplications and in the remaining DMD cases, the disease emerges as a result of small mutations, including point mutations or microdeletions/insertions (Nishino et al., 2002). The most basic method still in regular useinvolves Multiplex polymerase chain reaction (M-PCR)which is a technique for amplifying multiple exons within a gene to detect deletions (Chamberlain et al, 1988). M-PCR can be effectively usedfor the rapid screening of deletionsin the entire DMD coding region in affectedmales and female carriers (Traverso, 2006).During last five years, inRepublic of Moldova,were confirmed deletions in the dystrophin gene, most commonly affecting exons 48, 45, 47, 50 in 81.5% of DMD patients (Sacară et al., 2009).However, DMD cases caused by duplications, point mutationscan not be diagnosed using M-PCR. Thereby, Quantitative PCRhad been suggested as alternative methodto the current diagnostic approaches.Q-PCR can detect deletions and duplicationsof DMD gene; is highly sensitive, specific and reproducible, requires a minimal quantity of DNA and is carried out in a single step (Traverso, 2006). |
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Duchenne muscular dystrophy (DMD)is an X-linked recessive inheritedmuscle-wasting disease characterised primarily byprogressive weakness and atrophy of the skeletaland cardiac muscle. It is one of the most commonMendelian disorders, occurring in all population groups with abirth prevalence of approximately 1/3.500 males(Emery, 1991). The disease gene-dystrophin localises to the cell membrane in muscle cellsand bindsthe protein actin.The gene isextremely large, spanning 2 400 kb of genomic DNA and comprising79 exons which encode a 14 kb transcript. Approximately 65-70% of DMD patients show intragenic deletions of one or several exons of the gene. Most of the mutations are located at the proximal (exon 3-7) and central (exon 45-52) regions of the gene (Prior, 2005).A small proportion of the mutations (6%) involve duplications and in the remaining DMD cases, the disease emerges as a result of small mutations, including point mutations or microdeletions/insertions (Nishino et al., 2002). The most basic method still in regular useinvolves Multiplex polymerase chain reaction (M-PCR)which is a technique for amplifying multiple exons within a gene to detect deletions (Chamberlain et al, 1988). M-PCR can be effectively usedfor the rapid screening of deletionsin the entire DMD coding region in affectedmales and female carriers (Traverso, 2006).During last five years, inRepublic of Moldova,were confirmed deletions in the dystrophin gene, most commonly affecting exons 48, 45, 47, 50 in 81.5% of DMD patients (Sacară et al., 2009).However, DMD cases caused by duplications, point mutationscan not be diagnosed using M-PCR. Thereby, Quantitative PCRhad been suggested as alternative methodto the current diagnostic approaches.Q-PCR can detect deletions and duplicationsof DMD gene; is highly sensitive, specific and reproducible, requires a minimal quantity of DNA and is carried out in a single step (Traverso, 2006). |