Postnatal diagnostics for genetic diseases

[摘要] Geneticdiseasesarepathologiesoccurringasaresultofchromosomalabnormalitiesorpointmutationsingenese.g.,ashiftinthenucleobasesequenceofDNAthatleadtochangesingenefunction.Inheriteddiseasesarealsocausedbyalterationsinchromosomalstructureorquantity.Insomecaseschromosomalabnormalitiescanbethereasonforamalignantgrowth.Theuseofmolecular-geneticmethodsofdiagnosticsforinheritedorcongenitaldiseasesbothinprenatalandpostnatalperiodsisoneofthemostimportantdirectionsofpredictivemedicine.Atthe“StemcellbankPokrovsky”,themultiplexligation-dependentprobeamplificationmethodisusedindiagnosinginheriteddiseases.Thistechnologyassessestheamountofcopiesofexoninthecodingregionofagene.Detectedgenemutationsareconfirmedbypolymerasechainreactionordirectsequencingofthegeneregion.Itisalsopossibletodetectchromosomalaneuploidyandmicrodeletionsyndromes.FordetectionofpolymorphismsDNAisisolatedfrom0.7mlofwholefrozenbloodusingaProtranssetforDNAisolation,theDNABox500(Protrans,Germany).ThescreeningofdeletionsandinsertionsinexonsandpointmutationsinthegenesequenceisconductedwiththeuseofasetbyMRC-Holland(Holland).Thequantityassessmentoftheproductsofthemultiplexligation-dependentprobeamplificationreactionisconductedwiththeCEQ8800GeneticAnalysisSystem(BeckmanCoulter,USA).Inthefirstplacediagnosticsforgeneticdiseaseareusedtoassesstheriskofthesediseases,especiallyiftheparentsbearbadheredity.Earlydiagnosticscanhelpinpreventionandenableatimelytreatmentstart,whichintheendhelpstoimprovethequalityofapatients’life.

[学科分类] 肿瘤学

[关键词] genetic diseases;multiplex ligation-dependent probe amplification;chromosomal abnormalities