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 H Blanton, Jeffrey C. Murray, Iain McIntosh, Jacqueline T. Hecht

Research output: Contribution to journalArticle

63 Citations (Scopus)

Abstract

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
Pages (from-to)787-792
Number of pages6
JournalHuman Molecular Genetics
Volume3
Issue number5
StatePublished - May 1 1994
Externally publishedYes

Fingerprint

Achondroplasia
Cloning
Human Chromosomes
Chromosomes
Chromosome
Genes
Gene
Linkage Analysis
Placement
Locus
Genetic Heterogeneity
Telomere
Prenatal Diagnosis
Microsatellite Repeats
Organism Cloning
Human
Family
Localization
Evidence
Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Francomano, C. A., Ortiz De Luna, R. I., Hefferon, T. W., Bellus, G. A., Turner, C. E., Taylor, E., ... Hecht, J. T. (1994). Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Human Molecular Genetics, 3(5), 787-792.

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. / Francomano, Clair A.; Ortiz De Luna, Rosa I.; Hefferon, Timothy W.; Bellus, Gary A.; Turner, Carla E.; Taylor, Eugene; Meyers, Deborah A.; Blanton, Susan H; Murray, Jeffrey C.; McIntosh, Iain; Hecht, Jacqueline T.

In: Human Molecular Genetics, Vol. 3, No. 5, 01.05.1994, p. 787-792.

Research output: Contribution to journalArticle

Francomano, CA, Ortiz De Luna, RI, Hefferon, TW, Bellus, GA, Turner, CE, Taylor, E, Meyers, DA, Blanton, SH, Murray, JC, McIntosh, I & Hecht, JT 1994, 'Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p', Human Molecular Genetics, vol. 3, no. 5, pp. 787-792.
Francomano CA, Ortiz De Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E et al. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Human Molecular Genetics. 1994 May 1;3(5):787-792.
Francomano, Clair A. ; Ortiz De Luna, Rosa I. ; Hefferon, Timothy W. ; Bellus, Gary A. ; Turner, Carla E. ; Taylor, Eugene ; Meyers, Deborah A. ; Blanton, Susan H ; Murray, Jeffrey C. ; McIntosh, Iain ; Hecht, Jacqueline T. / Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. In: Human Molecular Genetics. 1994 ; Vol. 3, No. 5. pp. 787-792.
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