21－羟化酶CYP21B基因Ile^（172）→Asn错义突变

SCREENING OF Ile￣(172)→Asn MISSENSE MUTATION IN 21-HYDROXYLASE CYP21B GENE AMONG CONGENITAL ADRENAL HAPERPLASIA PATIENTS

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。

According to the principle of amplification refractory mutation system(ARMS), three primers were designed and synthesized for determinating the frequence of Ile￣(172)→Asn missense mutation in 21-hydroxylase CYP21B gene among congenital adrenal haperplasia (CAH) patients. These primers are:5'd(TTGGGAGACTACTCCCTGCTCT)3'(common primer),5'd (AGGTGAGGTAACAGA)3' (normal primer) and 5'd (AGGTGAGGTAACAGT)3' (mutant primer).Three of seven CAH patients were identified with Ile￣(172)→Asn mutation. The result of the analyses of a CAH family suggests that using this set of oligonucleotid primer allows rapid, easy and accurate analysis of Ile￣(172)→Asn missense mutation in population, and prenatal diagnosis in the high risk family especially.