ArticleAmerican journal of human genetics1990
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
Article in American journal of human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 32 citations in OpenAlex.
- Article
- Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.American journal of human genetics · 1996Article
- A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.American journal of human genetics · 1995Article
- Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.American journal of human genetics · 1993Article
- Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.Journal of medical genetics · 1992Article
- Short, interspersed repetitive DNA sequences in prokaryotic genomes.Journal of bacteriology · 1992Review
- Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.Journal of medical genetics · 1992Article
- Dispersed repetitive elements in mouse genome analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 1992Review
- Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).American journal of human genetics · 1991Article
- Monochromosomal Hybrids and Chromosome Transfer: A Functional Approach for Gene Identification.Cancer genomics & proteomicsReview
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
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.
Indexed as
Identifiers
1978559PMC1683908W1849542104What OpenQuestion holds
Registered trials
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