【摘 要】
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Objective: To genetic analysis the CYP21A2 of seven patients with congenital adrenal hyperplasia and their parents.Methods: Seven patients with congenital adrenal hyperplasia from six families were co
【机 构】
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Key Laboratory of birth defects prevention and control, Liuzhou, Guangxi 545001, P.R.China;Departmen
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Objective: To genetic analysis the CYP21A2 of seven patients with congenital adrenal hyperplasia and their parents.Methods: Seven patients with congenital adrenal hyperplasia from six families were collected.The exons of CYP21A2 and gross deletions were determined by Sanger sequencing and multiplex ligation-dependent probe amplification.Results: Of the seven patients, three cases were compound heterozygotes for c.518T>A and c.293-13C>G mutations, one case was compound heterozygote for c.293-13C>G mutation and gross deletion of CYP21A2, two cases were homozygous for c.293-13C>G mutation, and one case was compound heterozygous for c.518C>G and c.737delA mutations.All their parents were heterozygous mutation carriers.Conclusion: c.518T>A and c.293-13C>G are the common mutations of congenital adrenal hyperplasia in Liuzhou.Sanger sequencing is accurate in detecting point mutations of CYP21A2.Direct sequencing and MLPA analysis could identify both point mutation and deletions of CYP21A2.
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