De novo mutations producing unstable Hbs or Hbs M.
- 1 January 1982
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 60 (2) , 181-188
- https://doi.org/10.1007/bf00569709
Abstract
Cases of unstable hemoglobin and hemoglobin M disease that have appeared as de novo mutants over a span of approximately 50 years were used in derivingminimal, direct estimates of mutation rates per nucleotide per generation in man. The estimates are based upon analysis of data related to 40 cases of unstable Hbs and 15 of Hbs M that arose in 13 countries. The estimated rate calculated using all de novo β-gene mutants is 7.4×10-9 per nucleotide per generation; that derived using de novo α-gene mutants is 10.0×10-9. Subsequent calculations of mutation rates per α- and β-chain gene and extrapolation of these rates to a hypothetical gene of 1000 nucleotides yield an estimated mutation rate of 8.6×10-6 per 1000 nucleotides per generation. Even though some instances of false paternity may have biased these estimates in an upward direction, underreporting of Hb M cases, and particularly of unstable hemoglobins, makes it likely that the cited values are minimal estimates of mutation rates at the molecular level.This publication has 15 references indexed in Scilit:
- De novo mutations producing unstable hemoglobins or hemoglobins MHuman Genetics, 1981
- De novo mutations producing unstable hemoglobins or hemoglobins M. I. Establishment of a depository and use of data to test for an association of de novo mutation with advanced parental age.1981
- Search for mutations affecting protein structure in children of atomic bomb survivors: preliminary report.Proceedings of the National Academy of Sciences, 1980
- Indirect estimates of mutation rates in tribal Amerindians.Proceedings of the National Academy of Sciences, 1978
- Nucleotide Sequence of Human β Globin Messenger RNAHemoglobin, 1977
- Spontaneous Mutation in ManPublished by Springer Nature ,1975
- Haemoglobin Madrid β115 (G17) Alanine→Proline: an Unstable Variant Associated with Haemolytic AnaemiaActa Haematologica, 1974
- Mutation and evolution at the molecular level.1973
- Structural and functional studies on hemoglobin Bethesda (α2β2145 His), a variant associated with compensatory erythrocytosisJournal of Clinical Investigation, 1972
- TWO UNRELATED PATIENTS WITH CONGENITAL CYANOSIS DUE TO HÆMOGLOBINOPATHY MThe Lancet, 1964