title: Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
abstract: We report on two cases of prenatal diagnosis of myotonic dystrophy (DM), using flanking markers APOC2 or CKMM on the proximal side and D19S51 on the distal side. By double digestion (TaqI and NcoI) of PCR amplified CKMM, the informativeness was increased from a PIC value of 0.57 to 0.69. Altogether, with a PIC value of 0.64 for APOC2, 0.69 for CKMM, and 0.27 for D19S51 (BglI), presymptomatic and prenatal diagnosis can thus be offered to approximately 24% of persons with a risk between 0.0004 and 0.0008 using these flanking markers.
authors.affiliation: INSERM U73, Génétique et Pathologie Foetale, Château de Longchamp, Bois de Boulogne, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Lavedan
authors.forename: H
authors.initials: H
authors.lastname: Hofmann
authors.forename: P
authors.initials: P
authors.lastname: Shelbourne
authors.forename: C
authors.initials: C
authors.lastname: Duros
authors.forename: D
authors.initials: D
authors.lastname: Savoy
authors.forename: K
authors.initials: K
authors.lastname: Johnson
authors.forename: C
authors.initials: C
authors.lastname: Junien
mesh_terms: D000328:Adult; D001483:Base Sequence; D015193:Chorionic Villi Sampling; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers