An improved method for butyrylcholinesterase phenotyping

Picheth, Geraldo; Picheth, Geraldo; Primo-Parmo, S. L.; Chautard‐Freire‐Maia, Eleidi A.; Vieira, Muriel M.

doi:10.1007/bf00554417

Cited by 6 publications

(2 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The phenotypic characterization is expressed as the percentages of inhibition of the enzyme activity caused by DL-propranolol or by RO2-0683, which are called PN and RON numbers, respectively. They allow the "usual" phenotype to be distinguished from most of the "unusual" ones (BCHE UA, BCHE AK, BCHE AF, and BCHE A) (Alcâ ntara et al, 1991a,b;Picheth et al, 1994). The increasing number of possible genotypes has complicated identification of the different genotypes by biochemical analyses, including the inhibition test; however, current molecular biology techniques (PCR-PIRA, primer-introduced restriction analysis, Shibuta et al, 1994) permit detection of the BCHE*K variant.…”

Section: Methodsmentioning

confidence: 98%

Genetic variants of serum butyrylcholinesterase in Chilean Mapuche Indians

Acuña

Eaton

Ramírez

et al. 2003

American J Phys Anthropol

View full text Add to dashboard Cite

We estimated the frequencies of serum butyrylcholinesterase (BChE) alleles in three tribes of Mapuche Indians from southern Chile, using enzymatic methods, and we estimated the frequency of allele BCHE*K in one tribe using primer reduced restriction analysis (PCR-PIRA). The three tribes have different degrees of European admixture, which is reflected in the observed frequencies of the atypical allele BCHE*A: 1.11% in Huilliches, 0.89% in Cuncos, and 0% in Pehuenches. This result is evidence in favor of the hypothesis that BCHE*A is absent in native Amerindians. The frequencies of BCHE*F were higher than in most reported studies (3.89%, 5.78%, and 4.41%, respectively). These results are probably due to an overestimation of the frequency of allele BCHE*F, since none of the 20 BCHE UF individuals (by the enzymatic test) individuals analyzed showed either of the two DNA base substitutions associated with this allele. Although enzymatic methods rarely detect the presence of allele BCHE*K, PCR-PIRA found the allele in an appreciable frequency (5.76%), although lower than that found in other ethnic groups. Since observed frequencies of unusual alleles correspond to estimated percentages of European admixture, it is likely that none of these unusual alleles were present in Mapuche Indians before the arrival of Europeans.

show abstract

Section: Methodsmentioning

confidence: 98%

Genetic variants of serum butyrylcholinesterase in Chilean Mapuche Indians

Acuña

Eaton

Ramírez

et al. 2003

American J Phys Anthropol

View full text Add to dashboard Cite

show abstract

“…Enzyme inhibition tests (Alcântara et al, 1991, as modified by Picheth et al, 1994) were used for the detection of the atypical variant. The phenotype screening of 250 individuals was performed using alpha-naphthyl-acetate as substrate and DL-propranolol as inhibitor.…”

Section: Enzyme Inhibitionmentioning

confidence: 99%

Butyrylcholinesterase genetic variability in Guarani Amerindians from the Brazilian state of Mato Grosso do Sul

et al. 2006

View full text Add to dashboard Cite

Human butyrylcholinesterase (BChE; EC 3.1.1.8) is a polymorphic enzyme coded by the BCHE gene (3q26.1-q26.2) while the CHE2 gene (2q33-q35) determines a still not characterized substance that forms a complex with BChE (C 5 ), being the CHE2 C5+ and CHE2 C5-phenotypes detected in electrophoresis. The present study investigated BCHE and CHE2 variability and the BChE activity of Brazilian Guarani Amerindians from the Kaiowá and Ñandeva sub-groups living in several indigenous territories in the Brazilian state of Mato Grosso do Sul. The frequency of the BCHE exon 2 D70G (A) allele was 0.60% ± 0.35% while that of the BCHE exon 2 G390V (F-2) allele, never before screened in Amerindians, was 8.82% ± 1.35%. This is the first time that the BCHE gene exon 4 A539T (K) allele has been surveyed in Brazilian Amerindians where it was found at a frequency of 3.69% ± 0.85%, similar to that found in Chilean Mapuche Amerindians. The BCHE gene variability seen in this survey differs from that of non-isolated populations in respect to both A539T and G390V allele frequency. The CHE2 C5+ phenotype frequency was 14.40% ± 2.22% and falls within the range of that found for other Brazilian Amerindian samples.

show abstract

Possible influence of BCHE locus of butyrylcholinesterase on stature and body mass index

Souza

Picheth

Allebrandt

et al. 2004

American J Phys Anthropol

View full text Add to dashboard Cite

Butyrylcholinesterase activity has been shown to be positively associated with weight and body mass index (BMI). The present study was carried out to search for an association between variants of the BCHE gene and weight, stature, and BMI on the basis of means and variances compared between nonusual variants and their respective usual controls. Individuals bearing the atypical mutation (N = 52) did not differ from their usual phenotype controls (N = 104) in these parameters. The BCHE*U/BCHE*K individuals (N = 222) presented a significantly higher BMI variance than their BCHE*U/BCHE*U controls (N = 222, F = 1.40, P = 0.012). This higher BMI variance does not seem to be an isolated effect of the K mutation, but appears to be the result of an interaction between the K allele and the usual allele, since no such difference in variance was detected between BCHE*K/BCHE*K individuals (N = 23) and their BCHE*U/BCHE*U (N = 23) controls. These data may suggest a relation between variability in the BCHE locus itself and BMI. Individuals with the BCHE UF phenotype (N = 45) showed a significantly higher mean stature (about 3 cm more; P = 0.02) than their controls with the usual phenotype (N = 135). A role in cell proliferation has been proposed for BCHE, and since growth depends on the number of mitoses, it is not unexpected that variants of this enzyme may influence body stature in different ways. This study reports the first data on the relation of BCHE alleles to anthropometric characters.

show abstract

An improved method for butyrylcholinesterase phenotyping

Cited by 6 publications

References 11 publications

Genetic variants of serum butyrylcholinesterase in Chilean Mapuche Indians

Genetic variants of serum butyrylcholinesterase in Chilean Mapuche Indians

Butyrylcholinesterase genetic variability in Guarani Amerindians from the Brazilian state of Mato Grosso do Sul

Possible influence of BCHE locus of butyrylcholinesterase on stature and body mass index

Contact Info

Product

Resources

About