Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

Journal Article · Wed Jan 25 00:00:00 EST 1989 · Nucleic Acids Research; (UK)

DOI:https://doi.org/10.1093/nar/17.2.811· OSTI ID:5190824

Roberts, R G; Cole, C G; Hart, K A; Bobrow, M; Bentley, D R ^[1]

---

1. Guy's Hospital, London (England)

Carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD) by DNA methods uses Southern blotting to detect either the informative segregation of restriction fragment length polymorphisms (RFLPs) or the absence of restriction fragments in affected males. Recently, the use of the polymerase chain reaction (PCR) for rapid detection of deletions in some affected males was reported eliminating the need for Southern blotting of 37% of all samples. This approach is not applicable, however, to non-deletion cases or for carrier diagnosis. The authors have used PCR for rapid analysis of intragenic RFLPs to permit both carrier and prenatal diagnosis in the majority of familial cases.

• OSTI ID: 5190824
• Journal Information: Nucleic Acids Research; (UK), Vol. 17:2; ISSN 0305-1048
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HEREDITARY DISEASES
DIAGNOSIS
RFLPS
HYBRIDIZATION
DNA
DNA POLYMERASES
ELECTROPHORESIS
PATIENTS
DISEASES
ENZYMES
NUCLEIC ACIDS
NUCLEOTIDYLTRANSFERASES
ORGANIC COMPOUNDS
PHOSPHORUS-GROUP TRANSFERASES
POLYMERASES
TRANSFERASES
550200* - Biochemistry