An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene.
A fragment that contains a (CA)n sequence from the 3' untranslated region of the dystrophin gene can be amplified by the polymerase chain reaction and shows length polymorphism in a Caucasian population. The two common alleles differ by 4bp. This new genetic marker has a heterozygosity of about 35% and is typed more rapidly than a conventional restriction fragment length polymorphism. Its localisation at the 3' end of the dystrophin gene makes it a useful tool for diagnostic applications in families with Duchenne/Becker muscular dystrophy, and for the analysis of intragenic recombination.
Oudet
C
C
Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Unité 184 de Biologie Moléculaire, Faculté de Médecine, Strasbourg, France.
Heilig
R
R
Mandel
J L
JL
D001483:Base Sequence; D004247:DNA / Q000235:genetics; D016189:Dystrophin; D005819:Genetic Markers; D006801:Humans; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D016189:Dystrophin; D005819:Genetic Markers; D009124:Muscle Proteins; D015345:Oligonucleotide Probes; D004247:DNA