CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
复制标题
巴西 21-羟化酶缺乏症患者的 CYP21 突变。
DOI：
10.1007/s004390000276
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发表时间：
2000
期刊：
影响因子：
5.3
通讯作者：
Damiani,D
中科院分区：
文献类型：
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作者：
Witchel,SF;Smith,R;Crivellaro,CE;DellaManna,T;Dichtchekenian,V;Setian,N;Damiani,D
21-羟化酶缺乏引起的先天性肾上腺皮质增生症是一种常见的常染色体隐性遗传疾病，由21-羟化酶（CYP 21）基因突变引起。为了开发一种策略来筛选巴西最常见的CYP 21突变，我们对71个不相关家族的73名CAH儿童进行了分子基因型分析。CYP 21分子基因型分析所用的技术有：限制性片段长度多态性、单链构象多态性、等位基因特异性寡核苷酸杂交、等位基因特异性聚合酶链反应扩增和异源双链分析。除8个受影响的等位基因外，所有等位基因均发现突变。内含子2剪接突变是最常见的突变。筛查最常见的突变检测到132/142（93%）等位基因上至少有一个突变。16.2%的等位基因检测到CYP 21的多重突变。单个等位基因上的多个突变的高频率强调了对复杂CYP 21位点进行彻底和准确的分子基因型分析的重要性。
Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency is a common autosomal recessive disorder resulting from mutations in the 21-hydroxylase (CYP21) gene. To develop a strategy to screen for the most commonly occurring CYP21mutations in Brazil, we performed molecular genotype analysis on 73 children with CAH representing 71 unrelated families. The techniques used forCYP21molecular genotype analysis were: restriction fragment length polymorphism, single-strand conformational polymorphism, allele-specific oligonucleotide hybridization, allele-specific polymerase chain reaction amplification, and heteroduplex analyses. Mutations were identified on all but eight affected alleles. The intron 2 splicing mutation was the most frequently identified mutation. Screening for the most common mutations detected at least one mutation on 132/142 (93%) alleles. MultipleCYP21mutations were detected on 16.2% of alleles. The high frequency of multiple mutations on a single allele emphasizes the importance of thorough and accurate molecular genotype analysis of the complexCYP21locus.