Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3.
We previously mapped a distinctive autosomal dominant vacuolar neuromyopathy on human chromosome 19p13 in an 8cM region, delimited by D19S209 and D19S177 markers. We now report the fine mapping of the disease locus within an interval of 250 Kb by haplotype analysis performed using a set of 11 novel microsatellite markers isolated from the candidate region.
Sangiuolo
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F
Dipartimento di Biopatologia e Diagnostica per Immagini, Sezione di Genetica, Università Tor Vergata Rome, Italy.
Bruscia
E
E
Capon
F
F
Servidei
S
S
Dallapiccola
B
B
Novelli
G
G
D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D009132:Muscles / Q000502:physiology / Q000503:physiopathology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D020161:Physical Chromosome Mapping / Q000379:methods*; D016133:Polymerase Chain Reaction
D017931:DNA Primers; D004247:DNA