细胞与遗传-人类基因疾病与基因诊断

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1、CellularandMedicalGeneticsExperimentsDr.HuiLiChapter8HumangeneticdiseaseandgenticcounselingExperimentAim1.Befamiliarwiththeconcept,characteristicsandclassficationofsomehumangeneticdisease2.Knowthebasicprotocalofgeneticcounseling3.Cultivatestudents’responsibilityofforminggoodandnobledoctors

2、ExperimentmaterilasHumangeneticdiseasecasesExperimentProceduresGeneticcounselingisaprocedurecarriedoutbyreferringphysiciansandcounselors.Theydiscusstherecurrentriskandthepreventionandcureofahereditarydiseaseinafamily,maketherightchoiceandputitintopracticeundertheassistanceofthereferringdoc

3、tor.Geneticcounselingisaverycomplexprocedureandcannotbefinishedbyoneconsultation.Itusuallyincludethefollowingparts:1.Preparationoftheconsultation2.Thefirstconsultation3.Thesecondconsultation4.Follow-upvisitGeneticcounsellingistheprovisionofinformationtoaffectedindividualsorfamilymembersatr

4、iskofadisorderthatmaybegenetic.Theconsultantsareinformedof:Theconsequencesofthedisorder;Theprobabilityofdevelopingortransmittingit;Waysinwhichitmaybepreventedorameliorated.Whatisgeneticcounseling?SomeimportantpointsingeneticcounsellingItisimportantthatinformationisgiveninawaythattheconsult

5、andscanunderstand.Itisusefultoaskthemwhattheyunderstandaboutgeneticsbeforeattemptingtoexplainthenatureofthedisease.Theconsellorshouldaimtomaketheconsultandsawareoftheriskofhavinganaffectedchild,thepossiblemeansofpreventionincludingprenataldiagnosisandcarrierdetection,andtreatmentofthedisea

6、se.Counsellingshouldbenon-judgementalandnon-directive.EstablishingthediagnosisAnaccuratediagnosisisessentialtogeneticcounsellingsothatthecorrectadvicecanbegiven.Amedicalhistoryofallaffectedfamilyindividualsisneededandapedigreeconstructed.Miscarriage,unexplainedmentalhandicap,ormalformedchi

7、ldren,andparentalconsanguinityshouldbeaskedaboutspecifically.InvestigationsmayinvolvechromosomalorDNAanalysisorspecificbiochemicaltestsrelatedtothediseasebeingscreenedfor.