Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p

Clair A Francomano; Rosa I Ortiz de Luna; Timothy W Hefferon; Gary  A Bellus; Carla E Turner; Eugene  Taylor; Deborah A Meyers; Susan Halloran Blanton; Jeffery C Murray; Iain McIntosh; Jacqueline T Hecht

doi:10.1093/hmg/3.5.787

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Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p

Journal article

Peer reviewed

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p

Clair A Francomano, Rosa I Ortiz de Luna, Timothy W Hefferon, Gary A Bellus, Carla E Turner, Eugene Taylor, Deborah A Meyers, Susan Halloran Blanton, Jeffery C Murray, Iain McIntosh, …

Human molecular genetics, Vol.3(5), pp.787-792

1994

DOI: 10.1093/hmg/3.5.787

PMID: 8081365

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Abstract

Achondroplasia has been mapped to 4p16. 3 using 18 multigeneratlonal families with achondroplasia and 10 short tandem repeat polymorphic markers from this region. No evidence of genetic heterogeneity was found. Analysis of a recombinant family localizes the achondroplasia locus to the 2. 5 Mb region between D4S43 and the telomere. Multipoint linkage analysis favors placement telomerlc of D4S412. The establishment of closely linked markers will facilitate positional cloning of the achondroplasia gene and permit prenatal diagnosis of homozygous achondroplasia for at risk couples.

Biological and medical sciences

Medical sciences

Diseases of the osteoarticular system

Malformations and congenital and or hereditary diseases involving bones. Joint deformations

Details

Title: Subtitle: Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p
Creators: Clair A Francomano - Johns Hopkins University School of Medicine
Rosa I Ortiz de Luna - Hospital Infantil de México Federico Gómez
Timothy W Hefferon - Johns Hopkins University School of Medicine
Gary A Bellus - Johns Hopkins University School of Medicine
Carla E Turner - Johns Hopkins univ. school medicine, cent. medical genetics, Baltimore MD 21287, United States
Eugene Taylor - Johns Hopkins univ. school medicine, cent. medical genetics, Baltimore MD 21287, United States
Deborah A Meyers - Johns Hopkins univ. school medicine, cent. medical genetics, Baltimore MD 21287, United States
Susan Halloran Blanton - University of Virginia
Jeffery C Murray - University of Iowa
Iain McIntosh - Johns Hopkins univ. school medicine, cent. medical genetics, Baltimore MD 21287, United States
Jacqueline T Hecht - The University of Texas Health Science Center at Houston
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.3(5), pp.787-792
DOI: 10.1093/hmg/3.5.787
PMID: 8081365
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: Oxford University Press; Oxford
Language: English
Date published: 1994
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025328502771

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