Recombination events that locate myotonic dystrophy distal to APOC2 on 19q.
We previously reported a recombination in an individual with myotonic dystrophy (DM) which placed the markers D19S19 and APOC2 on the same side of the DM locus. Haplotyping of this family with more recently characterized probes which are either tightly linked to DM or distal to the linkage group at q13.2 shows that the DM locus is distal to APOC2. This is confirmed by other recombinants where DM segregates with distal probes. Additional marker to marker recombinations in unaffected individuals are reported and support the order and orientation of the DM linkage group as pter-(INSR, LDLR,S9)-(S19,BCL3,APOC2)-(CKMM,DM)-(S22,+ ++PRKCG)-qter. The data presented here cannot determine whether DM is proximal or distal to CKMM. The consequences of this probe order for antenatal diagnosis and future research aiming to isolate the gene which is affected in DM are discussed.
Johnson
K
K
Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London, England.
Shelbourne
P
P
Davies
J
J
Buxton
J
J
Nimmo
E
E
Anvret
M
M
Bonduelle
M
M
Williamson
B
B
Savontaus
M L
ML
D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D003434:Crossing Over, Genetic; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic