| 先天性肾上腺皮质增生症21羟化酶基因突变的研究 |
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| 引用本文： | 孙桂香,高文英,吕玲.先天性肾上腺皮质增生症21羟化酶基因突变的研究[J].天津医药,2002,30(10):583-585. |
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| 作者姓名： | 孙桂香 高文英 吕玲 |
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| 作者单位： | 1. 300074,天津市儿童医院内分泌科
2. 天津市儿科研究所遗传室 |
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| 摘 要： | 目的：检测32例21－OHD患儿CYP 21 3个点突变。方法：采用PCR－ACRS方法检测了32例21－OHD患儿及其家系3个点突变。结果：3例患儿为CYP 21第2内含子656位点突变，2例患儿为CYP 21第4外显子CD 172点突变，3例患儿为CYP 21第8外显子CD 356点突变。患儿为纯合子，家系成员为杂合子。结论：采用PCR－ACRS检测CYP 21点突变方法简便，结果可靠。
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| 关 键 词： | 先天性肾上腺增生 甾类21单氧化酶 点突变 |
Study on Gene Mutation of 21-hydroxylase Deficiency in Congenital Adrenal Hyperplasia |
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| SUN Guixiang,GAO Wenying,LU LingTianjin Children's Hospital,China.Study on Gene Mutation of 21-hydroxylase Deficiency in Congenital Adrenal Hyperplasia[J].Tianjin Medical Journal,2002,30(10):583-585. |
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| Authors: | SUN Guixiang GAO Wenying LU LingTianjin Children's Hospital China |
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| Institution: | SUN Guixiang,GAO Wenying,LU LingTianjin Children's Hospital,China 300074 |
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| Abstract: | The examine gene mutation of 21_hydroxylase deficiency in congen ital adrenal hyperplasia. Methods:By using the methods of PCR_ACRS,three mutatio ns in 32 patients with 21_OHD and their family trees were detected.Results:Intro n 2 of CYP21 mutated at nucleotide 656 in 3 patients,exon 4 of CYP21 at codon 17 2 in 2 patients,and exon 8 of CYP21 at codon 356 in 3 patients.Conclusion:The an alysis of CYP21 mutation by using PCR_ACRS in relatively simple,accurate,and fea sible. |
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| Keywords: | adrenal hyperplasia congenital steroid 21_monooxygenase point mutation |
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