Objective To study Chinese children with congenital adrenal hyperplasia (CAH) in the types ofpoint mutation in steroid 21 - hydroxylase gene (CYP21). Methods By using PCR-ASO hybridization analysiswith amplified segments involving exon 3-4 and exon 6-8 of the gene to investigate for the type ofmutations. Results The results showed among 5 point mutations detected positive findings being in 28/66 (42%)of CAH chromosomes, or 17/33 (52%) of the CAH cases examined. The only 1 non - classic form CAH case wasfound as homonsous for val - 281→len mutation. Three classic cases were heterozygous for compound mutations asnitron 2 A, C→G associated with lie-172→Asn or lie - 172→Asn with Gin-318→stop. The other point mutationsall revealed as homozygous alleies with the most freguent matations as nitron 2A, C→G. No PCR product wereprovided by 3 cases who had been verilied by Southern blotting with CYP21 B gene deletion (not shown). NO pointmutations were illustrated in normal controls. Conclusion This report presentS data in 17/33 (52K) of Chinesechildren with CAH in CYP 21 B gene had point mutations documenting the type and location of mutation indiagnosis of CAH.
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