The gene for achondroplasia maps to the telomeric region of chromosome 4p
Authors:
- Charles I. ScottCSCharles I. Scott
- 1 March 1994
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 6 (3) , 314-317
Abstract
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.Keywords
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