Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus.
Variable simple sequence motifs (VSSMs), or microsatellites, were used for the genetic delimitation of the myotonic dystrophy (DM) region at 19q. Three simple sequence motifs were identified in and around the ERCC1 DNA-repair gene at 19q13.2-13.3 and one in the vicinity of the RRAS gene at 19q13.3-qter. A (TG)n repeat, situated within the ninth intron of the ERCC1 gene, was converted into a highly informative multiallelic marker using PCR-mediated DNA amplification and high-resolution gel analysis. The structurally similar sequence motif in the RRAS gene yielded a marker system with only two alleles. Use of these VSSMs for linkage analysis and haplotyping in a selected set of DM families revealed that the DM gene is distal but close to the ERCC1 locus and can be excluded from the CKM-ERCC1 interval at 19q13.2. The order for RRAS and other distally located markers was established as DM-D19S50-[RRAS,KLK]-D19S22-ter.
Smeets
H J
HJ
Department of Human Genetics, Radboud Hospital, University of Nijmegen, The Netherlands.
Hermens
R
R
Brunner
H G
HG
Ropers
H H
HH
Wieringa
B
B
D000483:Alleles; D001483:Base Sequence; D002888:Chromosomes, Human, Pair 19; D003434:Crossing Over, Genetic; D004260:DNA Repair / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D015183:Restriction Mapping
D005819:Genetic Markers