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A new estimate of the achondroplasia mutation rate
Author(s) -
Gardner R. J. M.
Publication year - 1977
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1977.tb01274.x
Subject(s) - achondroplasia , mutation , mutation rate , allele , pediatrics , medicine , genetics , biology , gene
An estimate is derived of the mutation rate of achondroplasia, based upon the accumulated data of recent newborn studies in four cities. In a total of 242,257 births, seven infants had mutant achondroplasia, the diagnosis being confirmed radiologically in all but one. From this, the rate of mutation of the normal to the achondroplasia allele is calculated to be 1.4 × 10 ‐ ‐ 5 ± standard error 0.5 × 10 ‐ ‐ 5 . Certain shortcomings of this estimate are discussed.