title: Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis.
abstract: The use of preimplantation diagnosis for sex determination and detection of exon deletion means that unaffected babies can be born to parents suffering from Duchenne muscular dystrophy (DMD). However, those who do not have exon deletion should also be considered for further investigation. A new method, known as linkage analysis, has been developed to diagnose the presence of non-deletion DMD in preimplantation embryos. Linkage analysis uses informative intragenic and flanking markers to track the chromosome bearing the mutated gene. The present study reports the analysis of two polymorphic sites, in blastomeres biopsied from embryos from a female carrier of DMD. A single male embryo was obtained who had inherited alternate maternal alleles to the woman's affected surviving son, and this embryo was transferred.
authors.affiliation: Pochon CHA University Medical College, Department of Obstetrics and Gynecology, CHA General Hospital Korea, Seoul.
authors.forename: S H
authors.initials: SH
authors.lastname: Lee
authors.forename: I P
authors.initials: IP
authors.lastname: Kwak
authors.forename: K E
authors.initials: KE
authors.lastname: Cha
authors.forename: S E
authors.initials: SE
authors.lastname: Park
authors.forename: N K
authors.initials: NK
authors.lastname: Kim
authors.forename: K Y
authors.initials: KY
authors.lastname: Cha
mesh_terms: D000328:Adult; D002469:Cell Separation; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009865:Oocytes / Q000166:cytology; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*
chemical_list: D005819:Genetic Markers