title: Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
abstract: We report the isolation of a new marker (S6.1) from band p11.2 of human chromosome 17 by differential Alu-polymerase chain reaction (Alu-PCR) of both a monochromosomal hybrid retaining a single human chromosome 17 and a hybrid retaining a del(17)(p11.2p11.2) in addition to other human chromosomes. The method is based on the preferential PCR amplification of human DNA in rodent/human hybrids when primers specific to the human Alu repeat element are used. MspI and SstI RFLPs associated with S6.1 were identified and used in linkage analysis of both a previously reported and a newly identified French-Acadian kindred segregating autosomal dominant Charcot-Marie-Tooth disease (CMT). A cumulative peak lod score of 3.41 at a peak recombination fraction of .12 indicates that this marker is linked to the CMT 1A locus but is at a distance from the disease gene. Thus, the marker S6.1 will be useful in further delineating the candidate region for the CMT gene when its location with respect to pA10-41 and 1516, two other markers from 17p11.2 which have previously demonstrated close linkage to the CMT locus, has been determined.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
authors.forename: P I
authors.initials: PI
authors.lastname: Patel
authors.forename: C
authors.initials: C
authors.lastname: Garcia
authors.forename: R
authors.initials: R
authors.lastname: Montes de Oca-Luna
authors.forename: R I
authors.initials: RI
authors.lastname: Malamut
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: S
authors.initials: S
authors.lastname: Slaugenhaupt
authors.forename: A
authors.initials: A
authors.lastname: Chakravarti
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D005819:Genetic Markers