title: [Rapid detection of BCHE atypical variant (p.Asp70Gly) by high resolution melting curve analysis].
abstract: Butyrylcholinesterase (BChE) deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium). Although many acquired conditions may affect BChE activity, BChE deficiency is mainly due to mutations in the BCHE gene (MIM 177400). Though close to 70 natural mutations have been documented in human BCHE, the atypical variant (rs1799807) is the most frequently involved in prolonged apnea. We describe an HRM method for the detection of this variant. Thirty-four patients with known genotype [5 wild-type (U/U), 12 heterozygous (U/A), 17 homozygous (A/A) - A: atypical allele of BCHE, U: usual allele of BCHE -] were screened with the HRM analysis. Within and between-run precision were also evaluated. In silico prediction of HRM curves was performed in order to evaluate the potential impact of the other SNPs described within the PCR product on the HRM diagnostic accuracy. HRM analysis for the BCHE atypical variant genotyping is a simple, rapid, sensitive and low cost method.
authors.affiliation: Hôpital d'instruction des armées Bégin, Fédération de biologie clinique, Saint Mandé, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Mabboux
authors.affiliation: Hôpital d'instruction des armées Bégin, Fédération de biologie clinique, Saint Mandé, France.
authors.forename: Mélanie
authors.initials: M
authors.lastname: Dos Santos
authors.affiliation: Hôpital d'instruction des armées Bégin, Fédération de biologie clinique, Saint Mandé, France.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Courcelle
authors.affiliation: Hôpital d'instruction des armées Bégin, Fédération de biologie clinique, Saint Mandé, France.
authors.forename: Blandine
authors.initials: B
authors.lastname: Hary
authors.affiliation: Hôpital d'instruction des armées Bégin, Fédération de biologie clinique, Saint Mandé, France.
authors.forename: Franck
authors.initials: F
authors.lastname: Ceppa
authors.affiliation: Hôpital d'instruction des armées Bégin, Fédération de biologie clinique, Saint Mandé, France.
authors.forename: Hervé
authors.initials: H
authors.lastname: Delacour
mesh_terms: D001049:Apnea; D002091:Butyrylcholinesterase / Q000172:deficiency* / Q000235:genetics*; D014644:Genetic Variation; D060005:Genotyping Techniques / Q000379:methods; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D009691:Nucleic Acid Denaturation; D013997:Time Factors
chemical_list: D002091:Butyrylcholinesterase
keywords: atypical variant; butyrylcholinesterase; genotyping; high resolution melting