Amino acid substitution: its use in detection and analysis of genetic variants

Techniques of chemical analysis, amino acid sequencing and autoradiography are being used to study the frequency of incorporation of normally noncoded amino acids into hemoglobins and seminal fluid proteins. We are studying, by the sequencing of radiolabeled proteins followed by the recovery of [3H]...

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Bibliographic Details
Published in:Genetics (Austin) 1979-05, Vol.92 (1 Pt 1 Suppl), p.s39-s47
Main Authors: Popp, R A, Hirsch, G P, Bradshaw, B S
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Autoradiography
Cattle
Genetic Techniques
Genetic Variation
Haplorhini
Hemoglobins - genetics
Humans
Proteins - genetics
Semen
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Summary:Techniques of chemical analysis, amino acid sequencing and autoradiography are being used to study the frequency of incorporation of normally noncoded amino acids into hemoglobins and seminal fluid proteins. We are studying, by the sequencing of radiolabeled proteins followed by the recovery of [3H]isoleucine phenylthiohydantoin by high-performance liquid chromatography, the frequency at which normally noncoded isoleucine is incorporated into hemoglobin because of base-substitution mutations versus translational errors. Irradiation increases the isoleucine content of human hemoglobin and the frequency of substitution of isoleucine for specific amino acids in rabbit hemoglobin. Studies to date indicate that these techniques have been developed sufficiently for initial analysis of the potential of drugs and environmental pollutants to induce base-substitution mutations in mammalian somatic cells.
ISSN:0016-6731