promoter
SEQUENCE analysis of CYP21 AND CYP21P GENE
Wang XM, Han B, Gu XF
Department of Research Center,
XinHua Hospital, Shanghai Second Medical University, Shanghai, China
Objective： To analyze promoter
sequence of CYP21 and CYP21P gene in 27 patients with congenital adrenal
hyperplasia(CAH) and in normal control (50 Chinese and 6 European).
Methods： A 1.5 kb fragment of CYP21
genes containing -770bp to -1bp promoter sequence was amplified by specific
PCR primer, the PCR product was studied by DNA sequencing, restriction
fragment length polymorphism (RFLP) using restriction endonuclease BstⅪ and MslⅠ.
Results： According to Genebank number of M12792 M23280(CYP21 gene) and M12793(CYP21P gene), four nucleotide variations were detected in the promoter of CYP21
gene: -352T to G,-349insG,-332insG,-281insT and three
nucleotide variations were found in the promoter of CYP21P gene: -352T→G,-328insG and -279insG.
All variations were confirmed in CAH group and control
group (Chinese
and European) in all person.
Conclusions： The nucleotide
variations that we found in promoter of CYP21 gene and CYP21P gene should
be normal sequence.