[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.


CONCLUSIONS
Novel mutations were found in the promoter of 21-hydroxylase gene in CAH patients and the findings spurred on further expression studies.
Zhao
Y
Y
Laboratory of Molecular Medicine, Xinhua Hospital, Shanghai Second Medical University. Shanghai, 200092 P.R. China. xhkj@public.sta.net.cn
Ye
J
J
Yang
X
X
Gu
X
X
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D013255:Steroid 21-Hydroxylase