Abstract
An effort has been made to confirm the report [Dubinin, N. P. & Altukhov, Y. P. (1979) Proc. Natl. Acad. Sci. USA 76, 5226-5229] that children born prematurely or exhibiting congenital defects can be shown to exhibit relatively high frequencies of rare (nonpolymorphic) electrophoretic variants of proteins and that a large proportion of these variants are due to mutation in either the father or the mother. In a series of 178 children who were comparable with those described in the earlier report, we failed to encounter a high frequency of these variants in some 5341 determinations involving 45 proteins, nor were any mutations observed. Data from 1583 determinations of enzyme activity on a subset of the panel of proteins were also unremarkable. We are thus unable to confirm the earlier report.
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Selected References
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- Dubinin N. P., Altukhov Y. P. Gene mutations (de novo) found in electrophoretic studies of blood protein of infants with anomalous development. Proc Natl Acad Sci U S A. 1979 Oct;76(10):5226–5229. doi: 10.1073/pnas.76.10.5226. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Fielek S., Mohrenweiser H. W. Erythrocyte enzyme deficiencies assessed with a miniature centrifugal analyzer. Clin Chem. 1979 Mar;25(3):384–388. [PubMed] [Google Scholar]
- Mohrenweiser H. W. Enzyme-deficiency variants: frequency and potential significance in human populations. Isozymes Curr Top Biol Med Res. 1983;10:51–68. [PubMed] [Google Scholar]
- Mohrenweiser H. W., Fielek S. Elevated frequency of carriers for triosephosphate isomerase deficiency in newborn infants. Pediatr Res. 1982 Nov;16(11):960–963. doi: 10.1203/00006450-198211000-00012. [DOI] [PubMed] [Google Scholar]
- Mohrenweiser H. W. Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5046–5050. doi: 10.1073/pnas.78.8.5046. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Neel J. V., Mohrenweiser H. W., Meisler M. H. Rate of spontaneous mutation at human loci encoding protein structure. Proc Natl Acad Sci U S A. 1980 Oct;77(10):6037–6041. doi: 10.1073/pnas.77.10.6037. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Neel J. V., Satoh C., Hamilton H. B., Otake M., Goriki K., Kageoka T., Fujita M., Neriishi S., Asakawa J. Search for mutations affecting protein structure in children of atomic bomb survivors: preliminary report. Proc Natl Acad Sci U S A. 1980 Jul;77(7):4221–4225. doi: 10.1073/pnas.77.7.4221. [DOI] [PMC free article] [PubMed] [Google Scholar]