Dey_1998_Ann.Clin.Biochem_35_302

Reference

Title : Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: one common mutation and two novel silent genes - Dey_1998_Ann.Clin.Biochem_35_302
Author(s) : Dey DC , Maekawa M , Sudo K , Kanno T
Ref : Annals of Clinical Biochemistry , 35 :302 , 1998
Abstract :

A random population was screened for abnormal dibucaine and fluoride numbers (DN & FN) to find some common mutations in butyrylcholinesterase (BCHE) gene. Of 2375 unrelated individuals, 10 were found to have low DN and FN and were selected for further studies. DNA analysis of these hypocholinesterasemics revealed that seven patients were heterozygous for missense mutation at codon 330 (TTA to ATA; BCHE*330I). The frequency of BCHE*330I mutation was calculated to be at least 0.29% among the Japanese. On the other hand, two novel mutations were found in three families and two individuals including probands whose enzyme activity was very low (silent gene). Polymerase chain reaction and single stranded conformation polymorphism (PCR-SSCP) and restriction fragment length polymorphism (PCR-RFLP) were used for identification of the common and known mutation types such as BCHE*250P (ACT to CCT), BCHE*365R (GGA to CGA), and BCHE*539T (GCA to ACA; K-polymorphism), whereas PCR-SSCP was used in combination with direct DNA sequencing for new mutations like BCHE*446V (TTT to GTT) and BCHE*451X (GAA to TAA).

PubMedSearch : Dey_1998_Ann.Clin.Biochem_35_302
PubMedID: 9547905
Gene_locus related to this paper: human-BCHE

Citations formats

Dey DC, Maekawa M, Sudo K, Kanno T (1998)
Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: one common mutation and two novel silent genes
Annals of Clinical Biochemistry 35 :302

Dey DC, Maekawa M, Sudo K, Kanno T (1998)
Annals of Clinical Biochemistry 35 :302