title: The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD).
abstract: We performed genetic analysis for carrier detection for several at-risk females in a four-generation Duchenne muscular dystrophy (DMD) pedigree using deletion analysis. We demonstrated that dosage analysis is a suitable alternative method to determine the carrier status of female relatives of DMD patients shown to have a deletion within the DMD gene. Subsequently, we diagnosed an affected male fetus for an at-risk female shown to be a DMD carrier by deletion analysis. The usefulness of deletion and linkage analysis are compared. In this family, linkage analysis was complicated by the unavailability of key family members, two recombination events and by previously undisclosed nonpaternity. We found that dosage analysis was more efficient than linkage for carrier evaluation in this family.
authors.affiliation: Center for Human Genetics, Boston University School of Medicine, Massachusetts.
authors.forename: B
authors.initials: B
authors.lastname: Bejjani
authors.forename: P
authors.initials: P
authors.lastname: Finn
authors.forename: A
authors.initials: A
authors.lastname: Milunsky
authors.forename: J
authors.initials: J
authors.lastname: Amos
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010334:Paternity; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors