Localization of the achondroplasia gene to the distal 2. 5 MB of human chromosome 4p

Clalr A. Francomano, Rosa I.Ortiz De Luna, Timothy W. Hefferon, Gary A. Bellus, Caria E. Turner, Eugene Taylor, Deborah A. Meyers, Susan Halloran Blanton, Jeffrey C. Murray, Lain Mclntosh, Jacqueline T. Hecht

Research output: Contribution to journalArticlepeer-review

68 Scopus citations


Achondroplasia has been mapped to 4p16.3 using 18 multigenerational 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 telomeric 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.

Original languageEnglish (US)
Pages (from-to)787-792
Number of pages6
JournalHuman molecular genetics
Issue number5
StatePublished - May 1994
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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