论文部分内容阅读
目的:探讨用PCR技术检测21羟化酶缺陷的临床意义。方法:对32例先天性肾上腺皮质增生症(CAH)患儿,应用PCR技术直接检测21羟化酶B基因(功能基因)。结果:发现3例第3、第6外显子300bp、600bp小片段均缺失,3例仅300bp缺失,另外3名仅600bp缺失。结论:用PCR技术直接检测21-OHD方法简便,结果可靠,可直接区分A、B的基因,不需使用限制性内切酶。
Objective: To explore the clinical significance of detecting 21-hydroxylase deficiency by PCR. Methods: In 32 children with congenital adrenal hyperplasia (CAH), 21 hydroxylase B gene (functional gene) was directly detected by PCR. Results: Three cases of exon 3 and exon 300bp and 600bp were found to be missing. Only 3 cases of 300bp deletion and 3 cases of only 600bp deletion were found. Conclusion: The direct detection of 21-OHD by PCR is simple and reliable, and can directly distinguish A and B genes without using restriction endonucleases.