Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.
By the use of a series of closely linked DNA probes detecting restriction fragment length polymorphisms (RFLPs) distributed over the short arm of the X chromosome, a double crossover was detected in a Duchenne muscular dystrophy carrier and an affected male fetus was diagnosed at 12 weeks of gestation, with a probable accuracy of more than 99.0%. A new mutation was identified in another family with the same degree of reliability; three females in this family were thus deemed not to be DMD carriers. The eleven RFLP-markers presently available on the short arm of the X chromosome are useful in the diagnosis of DMD since they bridge the Duchenne locus at genetic distances varying between 3 and 20 cmo. Moreover, recombination within the set of markers provides an independent way of regionally mapping these probes relative to each other along the short arm of the X chromosome.
Bakker
E
E
Hofker
M H
MH
Goor
N
N
Mandel
J L
JL
Wrogemann
K
K
Davies
K E
KE
Kunkel
L M
LM
Willard
H F
HF
Fenton
W A
WA
Sandkuyl
L
L
D002874:Chromosome Mapping; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis
D005819:Genetic Markers