| Autor: |
Prior TW; Department of Laboratory Medicine, North Carolina Memorial Hospital, Chapel Hill., Friedman KJ, Highsmith WE Jr, Perry TR, Silverman LM |
| Jazyk: |
angličtina |
| Zdroj: |
Clinical chemistry [Clin Chem] 1990 Mar; Vol. 36 (3), pp. 441-5. |
| Abstrakt: |
By use of cDNA probes, molecular deletions were identified in 66.6% of 42 patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). Owing to this high deletion rate, a new strategy for detecting DMD/BMD carriers is feasible in which the polymerase chain reaction is used as an initial screen for detecting the deletions occurring in specific deletion-prone exons. Because the deletions do not occur randomly, specific cDNA probes are utilized first with Southern blot analysis. Identification of a deletion permits direct analysis for DMD carrier status and removes the inherent limitations of the conventional restriction fragment length polymorphism technique. Carrier status is determined by scanning the autoradiographs with a densitometric spectrophotometer or by detection of a junction fragment. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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