摘要
应用多聚酶链式反应(PCR)技术,直接分析了23名先天性肾上腺皮质增生症(CAH)患儿的21-羟化酶基因B(21-OHB)。不需用限制性内切酶分析以区分21-OHB和高度同源的假基因A(21-OHA),简化了基因分析过程。通过PCR诊断了7名患儿的基因缺陷。
PCR was used in direct analyses of 23 cases of cogenital adrenal hyperplasia (CAH) for 21-hydroxylase gene B (functional gene). We identified 7 cases of CAH had gene defects in exon 3 or exon 6. Two pairs of oligonucleatides primers were synthesized; primer A-B specific for exon 3, while primer C-E specific for exon 6. After amplifcations were operated, 6 cases lacked 300bp products with primer A-B and 4 cases lacked 600bp products with primer C-E. Among them, 3 cases that, lacked 600bp and 300bp might have gene deletions as the cause of CAH; 3 others that only lacked 300bp had defects in exon 3; only one cases that lacked 600bp might have exon 6 defect as the cause of CAH.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1992年第5期257-258,共2页
Chinese Journal of Medical Genetics
关键词
羟化酶
基因缺陷
聚合酶链反应
21-hydroxylase Poly merase chain reaction Gene defect
