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为了解先天性肾上腺皮质增生症患者的２１－羟化酶ＣＹＰ２１Ｂ基因中Ｉｌｅ~（１７２）→Ａｓｎ错义突变的发生率，根据放大受阻突变体系（Ａｍｐｌｉｆｉｃａｔｉｏｎｒｅｆｒａｃｔｏｒｙｍｕｔａｔｉｏｎｓｙｓｔｅｍ，ＡＲＭＳ）的要求，设计了３种引物：５＇ｄ（ＴＴＧＧＧＡＧＡＣＴＡＣＴＣＣＣＴＧＣＴＣＴ）３＇（共同引物）、５＇ｄ（ＡＧＧＴＧＡＧＧＴＡＡＣＡＧＡ）３＇（正常引物）、５＇ｄ（ＡＧＧＴＧＡＧＧＴＡＡＣＡＧＴ）３＇（突变引物），在７例患儿中进行了检测，发现具有本突变者３例。对其中一例进行的家系分析，结果提示：这组引物有快速、简便的优点，不需使用同位素就能对具有Ｉｌｅ~（１７２）→Ａｓｎ变异的高危家庭成员作产前诊断。
In order to understand the incidence of missense mutation of Ile ~ (172) → Asn in 21-hydroxylase CYP21B gene of patients with congenital adrenal hyperplasia, three primers were designed according to the requirements of Amplification Refractory Mutation System (ARMS) : 5’d (TTGGGAGACTACTCCCTGCTCT) 3 ’(common primer), 5’d (AGGTGAGGTAACAGA) 3’ (normal primer), 5’d (AGGTGAGGTAACAGT) 3 ’(mutated primer) Found with the mutation in 3 cases. An analysis of one of the pedigrees showed that the primers of this group were quick and easy to perform prenatal diagnosis of high-risk family members with Ile ~ (172) → Asn mutations without using isotopes.