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Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification.


ABSTRACT: AIM:To develop a SULT1A1 multiplex ligation-dependent probe amplification assay and to investigate multi-ethnic copy number variant frequencies. METHODS:A novel multiplex ligation-dependent probe amplification assay was developed and tested on 472 African-American, Asian, Caucasian, Hispanic and Ashkenazi Jewish individuals. RESULTS:The frequencies of atypical total copy number (i.e., greater or less than two) were 38.7% for Hispanics, 38.9% for Ashkenazi Jewish, 43.2% for Caucasians, 53.6% for Asians and 64.1% for African-Americans. Heterozygous SULT1A1 deletion carriers (slow sulfators) were most common among Caucasians (8.4%), whereas African-Americans had the highest frequencies of three or more copies (rapid sulfators; 60.9%). CONCLUSION:Different ethnic and racial populations have varying degrees of SULT1A1-mediated sulfation activity, which warrants further research and that may have utility for drug response prediction among SULT1A1-metabolized medications.

SUBMITTER: Vijzelaar R 

PROVIDER: S-EPMC6021911 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification.

Vijzelaar Raymon R   Botton Mariana R MR   Stolk Lisette L   Martis Suparna S   Desnick Robert J RJ   Scott Stuart A SA  

Pharmacogenomics 20180523 9


<h4>Aim</h4>To develop a SULT1A1 multiplex ligation-dependent probe amplification assay and to investigate multi-ethnic copy number variant frequencies.<h4>Methods</h4>A novel multiplex ligation-dependent probe amplification assay was developed and tested on 472 African-American, Asian, Caucasian, Hispanic and Ashkenazi Jewish individuals.<h4>Results</h4>The frequencies of atypical total copy number (i.e., greater or less than two) were 38.7% for Hispanics, 38.9% for Ashkenazi Jewish, 43.2% for  ...[more]

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