分子诊断学 复杂性疾病的分子诊断.pptx

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Molecularpathologyrepresentstheapplicationoftheprinciplesofbasicmolecularbiologytotheinvestigationofhumandiseaseprocesses.
molecularpathology:分子子病理理学
KeyPoints
Genemutationand/orgeneticpolymorphismisanormaloccurrence,usuallywithoutgraveconsequences,thatcontributestothosetraitsthatestablishourindividuality.
geneticpolymorphism:基因因多态态性
Accordingtonumerousinformationavailable,geneticdiseasescanbecategorizedintothreemajorgroups:chromosomaldisorders,monogenicorsingle-genedisorders,andpolygenicormultifactorialdisorders.
chromosomal:染色色体;;monogenic/single-gene:单基基因;;polygenic/multifactorial多基因因
Polygenicormultifactorialdisordersresultfrommultiplegeneticand/orepigeneticfactorsthatdonotconformtotraditionalMendelianinheritancepattens,whicharedifferentinmonogenicdisorders.
epigenetic:后生生的;;Mendelianinheritance:孟德德尔遗遗传;;
Thepathogenicnatureofmethylationisillustratedbytheobservationthatformanytumorsuppressorgenes.
methylation:***基化;;pathogenic:病原原的Hybridization:杂交交
ThedetectionofmethylatedsequencesinDNAderivedfromtheplasmaorserumbyallkindsofsensitivetechniquesisapotentiallyimportantearlydetectionandmonitoringmethodforcancer.
plasmaorserum:血浆浆或血血清
potentially:潜在在地
DNAalterationshavebeendetectedinpatientswithsmalloreveninsitulesions,indicatingthattumorDNAisshedintocirculationearlyinthedisease.
alterations:改变变,更更改;;insitu:在原原来的的位置置;
lesion:机能能障碍碍;
Oureverbroadeninginsightsintothemolecularbasisofdiseaseprocessescontinuetoprovideanopportunityfortheclinicallaboratorytodevelopandimplementnewandnovelapproachesfordiagnosis,monitoring,drugresistanceandprognosticassessmentofhumandiseases.
Implement:实施施;prognostic:预兆兆
复杂性性疾病病包括括肿瘤瘤(tumor)、心心血管管疾病病(cardiovasculardiseases)、自自身免免疫性性疾病病(autoimmunediseases)和一一些代代谢性性疾病病(metabolicdiseases)等。。