Vijzelaar Raymon, Botton Mariana R, Stolk Lisette, Martis Suparna, Desnick Robert J, Scott Stuart A
MRC-Holland, Willem Schoutenstraat 1, Amsterdam, The Netherlands.
Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Pharmacogenomics. 2018 Jun 1;19(9):761-770. doi: 10.2217/pgs-2018-0047. Epub 2018 May 23.
To develop a SULT1A1 multiplex ligation-dependent probe amplification assay and to investigate multi-ethnic copy number variant frequencies.
A novel multiplex ligation-dependent probe amplification assay was developed and tested on 472 African-American, Asian, Caucasian, Hispanic and Ashkenazi Jewish individuals.
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%).
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.
开发一种SULT1A1多重连接依赖探针扩增检测方法，并研究多种族的拷贝数变异频率。
开发了一种新型多重连接依赖探针扩增检测方法，并在472名非裔美国人、亚洲人、高加索人、西班牙裔和德系犹太人个体上进行了测试。
西班牙裔非典型总拷贝数（即大于或小于两个）的频率为38.7%，德系犹太人中为38.9%，高加索人为43.2%，亚洲人为53.6%，非裔美国人为64.1%。杂合性SULT1A1缺失携带者（慢硫酸化者）在高加索人中最为常见（8.4%），而非裔美国人中三个或更多拷贝（快硫酸化者）的频率最高（60.9%）。
不同种族和民族人群的SULT1A1介导的硫酸化活性程度不同，这值得进一步研究，并且可能有助于预测SULT1A1代谢药物的药物反应。
