The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD)
| Autor: | Jean A. Amos, Paula Finn, Bassem Bejjani, Aubrey Milunsky |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
musculoskeletal diseases
Adult Genetic Linkage Genetic counseling Duchenne muscular dystrophy Genetic Carrier Screening Prenatal diagnosis Genetic Counseling Paternity Carrier testing Genetic analysis Muscular Dystrophies Genetic linkage Pregnancy Risk Factors Prenatal Diagnosis Genetics medicine Humans Genetics (clinical) Linkage (software) business.industry Chromosome Mapping medicine.disease Pedigree Female Chromosome Deletion business |
| Zdroj: | Clinical genetics. 39(4) |
| ISSN: | 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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