Clinical Chemistry
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Clinical Chemistry 49: 1297-1308, 2003; 10.1373/49.8.1297
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(Clinical Chemistry. 2003;49:1297-1308.)
© 2003 American Association for Clinical Chemistry, Inc.

Molecular Diagnostics and Genetics

Butyrylcholinesterase (BCHE) Genotyping for Post-Succinylcholine Apnea in an Australian Population

Tina Yen1, Brian N. Nightingale1, Jennifer C. Burns1, David R. Sullivan1 and Peter M. Stewarta,1

1 Department of Clinical Biochemistry, Royal Prince Alfred Hospital, Missenden Road, Camperdown, Sydney, NSW 2050, Australia.

aAuthor for correspondence. Fax 61-2-9515-7931; e-mail peter.stewart{at}email.cs.nsw.gov.au.

Background: Measurement of plasma butyrylcholinesterase (BChE) activity and inhibitor-based phenotyping are standard methods for identifying patients who experience post-succinylcholine (SC) apnea attributable to inherited variants of the BChE enzyme. Our aim was to develop PCR-based assays for BCHE mutation detection and implement them for routine diagnostic use at a university teaching hospital.

Methods: Between 1999 and 2002, we genotyped 65 patients referred after prolonged post-SC apnea. Five BCHE gene mutations were analyzed. Competitive oligo-priming (COP)-PCR was used for flu-1, flu-2, and K-variant and direct DNA sequencing analysis for dibucaine and sil-1 mutations. Additional DNA sequencing of BCHE coding regions was provided when the five-mutation screen was negative or mutation findings were inconsistent with enzyme activity.

Results: Genotyping identified 52 patients with primary hypocholinesterasemia attributable to BCHE mutations, and in 44 individuals the abnormalities were detected by the five-mutation screen (detection rate, 85%). Additional sequencing studies revealed mutations in eight other patients, including five with novel mutations. The most common genotype abnormality was compound homozygous dibucaine and homozygous K-variant mutations. No simple homozygotes were found. Of the remaining 13 patients, 3 had normal BChE activity and gene, and 10 were diagnosed with hypocholinesterasemia unrelated to BCHE gene abnormalities.

Conclusion: A five-mutation screen for investigation of post-SC apnea identified BCHE gene abnormalities for 80% of a referral population. Six new BCHE mutations were identified by sequencing studies of 16 additional patients.




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