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© 1994 Oxford University Press

OTHER

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 Taylor1, Deborah A. Meyers1, Susan Halloran Blanton2, Jeffrey C. Murray3, lain Mclntosh and Jacqueline T. Hecht

Center for Medical Genetics 1Department of Psychiatry, Johns Hopkins University School of Medicine 600 North Wolfe Street Baltimore, MD 21287 2Department of Pediatrics, University of Virginia School of Medicine Charllottesville, VA 22908 3Department of Pediatrics, University of Iowa, Iowa City, IA 52245 and 4Department of Pediatrics, University of Texas Medical School, Houston, TX 77225 USA

*To whom correspondence should be addressed

Received February 15, 1994; Accepted March 21, 1994

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.

+Permanent address: Genetics Unit ‘Mario Gonzalez Ramos’, Hospital Infantil de Mexico ‘Federico Gomez’, Mexico City, Mexico


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