Screening of CYP21 gene P459H mutation by PCR-ACRS
- VernacularTitle:PCR-ACRS方法筛查CYP21基因P459H的突变位点
- Author:
Jiali WANG
;
Ling JIANG
;
Lulu SONG
;
Hui WANG
- Publication Type:Journal Article
- Keywords:
Genes,CYP21;
Point mutation;
Adrenal hyperplasia,congenital
- From:
Chinese Journal of Pathophysiology
1986;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
AIM: To investigate the frequency of P459H(CCC→CAC) in exon 10 of CYP21 gene among normal population.METHODS: The exons 3-10 of CYP21 gene were amplified with polymerase chain reaction(PCR).The PCR round products were digested by restriction enzyme Pst I to confirm that CYP21 gene was specifically amplified.PCR-based amplification-created restriction site(PCR-ACRS) was performed using the first round PCR products as template.After the second PCR products were digested by restriction enzyme Fsp I,10% polyacrylamide gel electrophoresis was used to screen the frequency of P459H in exon 10.RESULTS: The codon 459 in exon 10 of CYP21 gene was all CCC among 100 normal cases tested.CONCLUSION: P459H(CCC →CAC) of CYP21 gene might be a novel point mutation causing CAH.Furthermore,PCR-ACRS was a fast and safe method for gene mutation screening.
