Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase

Christine P. Nogueira, Cynthia F. Bartels, Mary C. McGuire, Steve Adkins, Tina Lubrano, Herbert M. Rubinstein, Harold Lightstone, Abraham F L Van Der Spek, Oksana Lockridge, Bert N. La Du

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

The fluoride variant of human butyrylcholinesterase owes its name to the observation that it is resistant to inhibition by 0.050 mM sodium fluoride in the in vitro assay. Individuals who are heterozygous for the fluoride and atypical alleles experience about 30 min of apnea, rather than the usual 3-5 min, after receiving succinyldicholine. Earlier we reported that the atypical variant has a nucleotide substitution which changes Asp 70 to Gly. In the present work we have identified two different point mutations associated with the fluoride-resistant phenotype. Fluoride-1 has a nucleotide substitution which changes Thr 243 to Met (ACG to ATG). Fluoride-2 has a substitution which changes Gly 390 to Val (GGT to GTT). These results were obtained by DNA sequence analysis of the butyrylcholinesterase gene after amplification by PCR. The subjects for these analyses were 4 patients and 21 family members.

Original languageEnglish (US)
Pages (from-to)821-828
Number of pages8
JournalAmerican Journal of Human Genetics
Volume51
Issue number4
StatePublished - Jan 1 1992

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Butyrylcholinesterase
Fluorides
Point Mutation
Phenotype
Nucleotides
Sodium Fluoride
Succinylcholine
Gene Amplification
Apnea
DNA Sequence Analysis
Names
Alleles
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Nogueira, C. P., Bartels, C. F., McGuire, M. C., Adkins, S., Lubrano, T., Rubinstein, H. M., ... La Du, B. N. (1992). Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase. American Journal of Human Genetics, 51(4), 821-828.

Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase. / Nogueira, Christine P.; Bartels, Cynthia F.; McGuire, Mary C.; Adkins, Steve; Lubrano, Tina; Rubinstein, Herbert M.; Lightstone, Harold; Van Der Spek, Abraham F L; Lockridge, Oksana; La Du, Bert N.

In: American Journal of Human Genetics, Vol. 51, No. 4, 01.01.1992, p. 821-828.

Research output: Contribution to journalArticle

Nogueira, CP, Bartels, CF, McGuire, MC, Adkins, S, Lubrano, T, Rubinstein, HM, Lightstone, H, Van Der Spek, AFL, Lockridge, O & La Du, BN 1992, 'Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase', American Journal of Human Genetics, vol. 51, no. 4, pp. 821-828.
Nogueira CP, Bartels CF, McGuire MC, Adkins S, Lubrano T, Rubinstein HM et al. Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase. American Journal of Human Genetics. 1992 Jan 1;51(4):821-828.
Nogueira, Christine P. ; Bartels, Cynthia F. ; McGuire, Mary C. ; Adkins, Steve ; Lubrano, Tina ; Rubinstein, Herbert M. ; Lightstone, Harold ; Van Der Spek, Abraham F L ; Lockridge, Oksana ; La Du, Bert N. / Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase. In: American Journal of Human Genetics. 1992 ; Vol. 51, No. 4. pp. 821-828.
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