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Amino-acid Substitution in Haemoglobin I (Texas Variant)

Naturevolume 214page499 (1967) | Download Citation



AN electrophoretically fast genetic variant of adult haemoglobin was described in six members of a Negro family living in Texas by Thompson et al. in 1963 (ref. 1). Fingerprints of the purified haemoglobin established the identity of this variant with haemoglobin I previously described by Murayama and Ingram2, in which the third tryptic peptide from the N-terminus of the α chain contained an amino-acid alteration responsible for the rapid electrophoretic migration of the intact haemoglobin. Lysine, which is the sixteenth residue, had been replaced in haemoglobin I by an acidic amino-acid. The substitution was described in both I variants from Texas1 and Philadelphia3 as being lysine to aspartic acid; however, recent elucidation of the genetic code has eliminated the substitution lys→asp from the class of mutations which could result from alteration of a single nucleotide base in the triplet code4. A nucleotide triplet coding for lysine (AAA or AAG) could not be altered in a single base so that it would specify aspartic acid (GAU or GAC). This led Beale and Lehmann5 to re-examine the I variant from Philadelphia. Their findings established the substitution to be lys→glu, which is in agreement with an alteration in a single nucleotide (AAA or AAG to GAA or GAG).

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  1. 1

    Thompson, O. L., Moreland, H. J., Smith, G. W., Bowman, B. H., Alexender, M. J., and Schneider, R. G., Blood, 22, 313 (1963).

  2. 2

    Murayama, M., and Ingram, V. M., Nature, 183, 1798 (1959).

  3. 3

    Murayama, M., Fed. Proc., 19, 78 (1960).

  4. 4

    Nirenberg, M., Leder, P., Bernfield, M., Brimacombe, R., Trupin, J., Rottman, F., and O'Neal, C., Proc. U.S. Nat. Acad. Sci., 53, 1161 (1965).

  5. 5

    Beale, D., and Lehmann, H., Nature, 207, 259 (1965).

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    Present address: The Rockefeller University, New York, New York


  1. The Genetics Foundation, University of Texas

    •  & DON R. BARNETT


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