Related Experiment Video
Updated: Jun 3, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population
1Institute of Hypertension and Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of Chin.
Background:
Congenital adrenal hyperplasia owing to 17α-hydroxylase/17, 20-lyase deficiency is caused by genetic mutations in the CYP17A1 gene. To date, more than 80 different genetic lesions have been described in patients suffering from this disorder. We aimed to estimate the prevalence of CYP17A1 common mutations in Chinese Han population.
Methods:
We first reported two female patients with 17α-hydroxylase deficiency based on their clinical features and molecular genetics, and then summarized all the mutations of CYP17A1 gene reported around the world. The most common mutations of CYP17A1 among Chinese Han were genotyped in additional 3245 healthy Chinese using Taqman-assays.
Results:
The mutation spectrum in Asian is different from European decent. All healthy controls could detect two CYP17A1 mutations, D487-S488-F489 deletion and TAC329AA, with a prevalence of 1 in 1000 or 2 in 1000, respectively.
Conclusion:
Our data demonstrates that these two mutations are major causes of 17α-hydroxylase deficiency in Chinese Han population.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
01:28Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
01:27Principles of Pharmacogenetics: Types of Genetic Variants
02:26Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...