The gene for achondroplasia maps to the telomeric region of chromosome 4p

M Velinov, S A Slaugenhaupt, I Stoilov, C I Scott, J F Gusella, P Tsipouras
Nature Genetics 1994, 6 (3): 314-7
Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. We have now mapped the achondroplasia gene near the telomere of the short arm of chromosome 4 (4p16.3), by family linkage studies using 14 pedigrees. A positive lod score of z = 3.35 with no recombinants was obtained with an intragenic marker for IDUA. This localization will facilitate the positional cloning of the disease gene.

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