Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.
Linkage was shown between the myotonic dystrophy locus (DM) and a highly polymorphic AC repeat marker within the kallikrein (KLK1) locus (Z = 3.00, theta = 0.0). Linkage between KLK1 and the highly polymorphic AC repeat marker within the apolipoprotein C2 (APOC2) locus, which had been established in normal families, was confirmed in myotonic dystrophy families (Z = 4.37, theta = 0.11). These highly polymorphic AC repeat markers flank DM on chromosome 19. The gene order is cen-APOC2 (0.03) DM (0.08) KLK1-qter with recombination frequencies shown in parentheses. Genotypes for the AC repeat markers can be determined simultaneously by multiplex PCR and separation of the two base pair differences between adjacent alleles on sequencing gels. In informative families, this approach provides rapid diagnosis and is more accurate than methods using markers restricted to the proximal side of the myotonic dystrophy gene.
Mulley
J C
JC
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.
Gedeon
A K
AK
White
S J
SJ
Haan
E A
EA
Richards
R I
RI
D001483:Base Sequence; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D015995:Prevalence; D011995:Recombination, Genetic; D012306:Risk
D005819:Genetic Markers