Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers

C Lavedan; H Hofmann; P Shelbourne; C Duros; D Savoy; K Johnson; C Junien

doi:10.1136/jmg.28.2.89

Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers

J Med Genet. 1991 Feb;28(2):89-91. doi: 10.1136/jmg.28.2.89.

Authors

C Lavedan¹, H Hofmann, P Shelbourne, C Duros, D Savoy, K Johnson, C Junien

Affiliation

¹ INSERM U73, Génétique et Pathologie Foetale, Château de Longchamp, Bois de Boulogne, Paris, France.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Base Sequence
Chorionic Villi Sampling
Chromosome Mapping
Chromosomes, Human, Pair 19*
Female
Genetic Linkage
Genetic Markers*
Humans
Male
Middle Aged
Molecular Sequence Data
Myotonic Dystrophy / diagnosis*
Myotonic Dystrophy / genetics*
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis*

Substances

Genetic Markers