Show simple item record

dc.creatorVerlinsky, Yuryen
dc.creatorRechitsky, Svetlanaen
dc.creatorVerlinsky, Olegen
dc.creatorMasciangelo, Christinaen
dc.creatorLederer, Kevinen
dc.creatorKuliev, Anveren
dc.date.accessioned2011-07-12T18:25:09Zen
dc.date.available2011-07-12T18:25:09Zen
dc.date.created2002-02-27en
dc.date.issued2002-02-27en
dc.identifier.bibliographicCitationJAMA: The Journal of the American Medical Association 2002 February 27; 287(8): 1018-1021en
dc.identifier.urihttp://hdl.handle.net/10822/520457en
dc.description.abstractCONTEXT: Indications for preimplantation genetic diagnosis (PGD) have recently been expanded to include disorders with genetic predisposition to allow only embryos free of predisposing genes to be preselected for transfer back to patients, with no potential for pregnancy termination. OBJECTIVE: To perform PGD for early-onset Alzheimer disease (AD), determined by nearly completely penetrant autosomal dominant mutation in the amyloid precursor protein (APP) gene. DESIGN: Analysis undertaken in 1999-2000 of DNA for the V717L mutation (valine to leucine substitution at codon 717) in the APP gene in the first and second polar bodies, obtained by sequential sampling of oocytes following in vitro fertilization, to preselect and transfer back to the patient only the embryos that resulted from mutation-free oocytes. SETTING: An in vitro fertilization center in Chicago, Ill. PATIENTS: A 30-year-old AD-asymptomatic woman with a V717L mutation that was identified by predictive testing of a family with a history of early-onset AD. MAIN OUTCOME MEASURES: Results of mutation analysis; pregnancy outcome. RESULTS: Four of 15 embryos tested for maternal mutation in 2 PGD cycles, originating from V717L mutation--free oocytes, were preselected for embryo transfer, yielding a clinical pregnancy and birth of a healthy child free of predisposing gene mutation according to chorionic villus sampling and testing of the neonate's blood. CONCLUSION: This is the first known PGD procedure for inherited early-onset AD resulting in a clinical pregnancy and birth of a child free of inherited predisposition to early-onset AD.en
dc.formatArticleen
dc.languageengen
dc.source243688en
dc.subjectAlzheimer Diseaseen
dc.subjectBlooden
dc.subjectDiagnosisen
dc.subjectDiseaseen
dc.subjectDNAen
dc.subjectEmbryosen
dc.subjectGenesen
dc.subjectGenetic Predispositionen
dc.subjectIn Vitro Fertilizationen
dc.subjectMutationen
dc.subjectPatientsen
dc.subjectPreimplantation Diagnosisen
dc.subjectPregnancyen
dc.subject.classificationGenetic Counseling / Prenatal Diagnosisen
dc.subject.classificationHealth Care for Mentally Disabled Personsen
dc.titlePreimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutationen
dc.provenanceDigital citation created by the Bioethics Research Library, Georgetown University, for the National Information Resource on Ethics and Human Genetics, a project funded by the United States National Human Genome Research Instituteen
dc.provenanceDigital citation migrated from OpenText Livelink Discovery Server database named GenETHX to DSpace collection GenETHX hosted by Georgetown Universityen


This item appears in the following Collection(s)

Show simple item record


Georgetown University Seal
©2009—2019 Bioethics Research Library
Box 571212 Washington DC 20057-1212
202.687.3885