[Mutation in the promoter region of 21-hydroxylase gene of patients with congenital adrenal hyperplasia].
OBJECTIVE: To investigate the mutations in the 21-hydroxylase gene promoter region of patients with congenital adrenal hyperplasia (CAH). METHODS: The authors amplified a 1.6 kb fragment of the CYP21 gene which was confirmed by endonuclease digestion. The PCR product was re-amplified with promoter-region-specific primers. The amplified fragments were analyzed using SSCP and endonuclease digestion methods. RESULTS: Among 12 patients, 6 patients presented an abnormal band on SSCP analysis. By endonuclease digestion test, the authors found a patient who presented one mutation in KpnI recognition site located in the CK-2 (-101) binding region and one in Taq I recognition site located -201. These mutations were confirmed by sequencing. CONCLUSION: Novel mutations were found in the promoter of 21-hydroxylase gene in CAH patients and the findings spurred on further expression studies.