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2017•PharmacogenomicsRequires access

Systematic Screening for CYP3A4 Genetic Polymorphisms in a Han Chinese Population

Guoxin Hu, Da‐Peng Dai, Hao Wang, Xiangxin Huang, X.‐Y. Zhou, Jie Cai, Hao Chen, Jian‐Ping Cai

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Abstract

AIM: To systematically investigate the genetic polymorphisms of the CYP3A4 gene in a Han Chinese population. MATERIALS & METHODS: The promoter and exons of CYP3A4 gene in 1114 unrelated, healthy Han Chinese subjects were amplified and genotyped by direct sequencing. RESULTS: In total, five previously reported alleles (*1G, *4, *5, *18B and *23) were detected, of which one allele (*23) was reported for the first time in Han Chinese population. Additionally, seven novel exonic variants were also identified and designated as new alleles CYP3A4*28-*34. CONCLUSION: This study provides the most comprehensive data of CYP3A4 polymorphisms in Han Chinese population and detects the largest number of novel CYP3A4 alleles in one ethnic group.

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What this paper is about

AIM: To systematically investigate the genetic polymorphisms of the CYP3A4 gene in a Han Chinese population. MATERIALS & METHODS: The promoter and exons of CYP3A4 gene in 1114 unrelated, healthy Han Chinese subjects were amplified and genotyped by direct sequencing. RESULTS: In total, five previously reported alleles (*1G, *4, *5, *18B and *23) were detected, of which one allele (*23) was reported for the first time in Han Chinese population. Additionally, seven novel exonic variants were also identified and designated as new alleles CYP3A4*28-*34. CONCLUSION: This study provides the most comprehensive data of CYP3A4 polymorphisms in Han Chinese population and detects the largest number of novel CYP3A4 alleles in one ethnic group.

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Available abstract

AIM: To systematically investigate the genetic polymorphisms of the CYP3A4 gene in a Han Chinese population. MATERIALS & METHODS: The promoter and exons of CYP3A4 gene in 1114 unrelated, healthy Han Chinese subjects were amplified and genotyped by direct sequencing. RESULTS: In total, five previously reported alleles (*1G, *4, *5, *18B and *23) were detected, of which one allele (*23) was reported for the first time in Han Chinese population. Additionally, seven novel exonic variants were also identified and designated as new alleles CYP3A4*28-*34. CONCLUSION: This study provides the most comprehensive data of CYP3A4 polymorphisms in Han Chinese population and detects the largest number of novel CYP3A4 alleles in one ethnic group.

Key concepts: Allele, Genetics, Biology, Han chinese, Gene, Exon, Population, Chinese population

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