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Region Hovedstaden - en del af Københavns Universitetshospital
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Carboxylesterase 1 genes: systematic review and evaluation of existing genotyping procedures

Publikation: Bidrag til tidsskriftReviewForskningpeer review

DOI

  1. Carboxylesterase 1A2 encoding gene with increased transcription and potential rapid drug metabolism in Asian populations

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Investigating the impact of missense mutations in hCES1 by in silico structure-based approaches

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

Vis graf over relationer

The carboxylesterase 1 gene (CES1) encodes a hydrolase that metabolizes commonly used drugs. The CES1-related pseudogene, carboxylesterase 1 pseudogene 1 (CES1P1), has been implicated in gene exchange with CES1 and in the formation of hybrid genes including the carboxylesterase 1A2 gene (CES1A2). Hence, the CES1 region is complex. Using in silico PCR and alignment, we assessed the specificity of PCR-assisted procedures for genotyping CES1, CES1A2 and CES1P1 in studies identified in PubMed. We identified 33 such studies and excluded those that were not the first to use a procedure or lacked sequence information. After this 17 studies remained. Ten of these used haplotype-specific amplification, restriction enzyme treatment or amplicon sequencing, and included five that were predicted to lack specificity. All procedures for genotyping of single nucleotide polymorphisms in eight studies lacked specificity. One of these studies also used amplicon sequencing, thus being present in the group above. Some primers and their intended targets were mismatched. We provide experimental evidence that one of the procedures lacked specificity. Additionally, a complex pattern of segmental duplications in the CES1 region was revealed. In conclusion, many procedures for CES1, CES1A2 and CES1P1 genotyping appear to lack specificity. Knowledge about the segmental duplications may improve the typing of these genes.

OriginalsprogEngelsk
TidsskriftDrug Metabolism and Personalized Therapy
Vol/bind33
Udgave nummer1
Sider (fra-til)3-14
Antal sider11
ISSN2363-8907
DOI
StatusUdgivet - 28 mar. 2018

ID: 52796569