Implementation of a next-generation sequencing-based targeted approach for full-length CYP3A4 gene sequencing

被引：1

作者：

Kivrane, Agnija ^{[1
,2
]}

Igumnova, Viktorija ^{[1
,2
]}

Kimsis, Janis ^{[1
]}

Freimane, Lauma ^{[1
]}

Sadovska, Darja ^{[1
,2
]}

Viksna, Anda ^{[2
,3
]}

Pole, Ilva ^{[3
]}

Ranka, Renate ^{[1
,2
]}

机构：

[1] Latvian Biomed Res & Study Ctr, Ratsupites St 1,K-1, LV-1067 Riga, Latvia

[2] Riga Stradins Univ, Dzirciema St 16, LV-1007 Riga, Latvia

[3] Riga East Univ Hosp, Ctr TB & Lung Dis, LV-2118 Upeslejas, Stopini Region, Latvia

来源：

PHARMACOGENOMICS | 2021年 / 22卷 / 09期

关键词：

cytochrome P450; metabolic pathways; next-generation sequencing; pharmacogenetics; GENOME-WIDE ASSOCIATION; VARIANTS;

D O I：

10.2217/pgs-2020-0128

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Aim: To evaluate the application of next-generation sequencing-based targeted protocol for full-length CYP3A4 gene sequencing analysis. Materials & methods: The developed sequencing protocol was applied to analyze human DNA samples (n = 7) obtained from tuberculosis patients admitted to the Riga East University Hospital, Center of Tuberculosis and Lung diseases. Results: The sequencing data quality was sufficient for the detection of already known genetic variants, as well as for identifying rare and novel variants dispersed throughout the CYP3A4 gene with a high degree of confidence. Conclusion: Developed protocol can be applied in subpopulation level association studies to determine whether specific genetic variants or variant combinations from multiple regions of the CYP3A4 gene are of clinical significance.

引用

页码：519 / 527

页数：9

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