Literature DB >> 8081365

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

C A Francomano1, R I Ortiz de Luna, T W Hefferon, G A Bellus, C E Turner, E Taylor, D A Meyers, S H Blanton, J C Murray, I McIntosh.   

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.

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Year:  1994        PMID： 8081365     DOI： 10.1093/hmg/3.5.787

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  11 in total

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