CHARACTERIZATION OF MUTATIONS ON THE RARE DUPLICATED C4/CYP21 HAPLOTYPE IN STEROID 21-HYDROXYLASE DEFICIENCY
CHARACTERIZATION OF MUTATIONS ON THE RARE DUPLICATED C4/CYP21 HAPLOTYPE IN STEROID 21-HYDROXYLASE DEFICIENCY
复制标题
DOI：
10.1007/bf02272841
复制
发表时间：
1994-07-01
期刊：
影响因子：
5.3
通讯作者：
LUTHMAN, H
中科院分区：
文献类型：
--
作者：
WEDELL, A;STENGLER, B;LUTHMAN, H
我们确定了三名携带罕见单倍型的瑞典患者先天性肾上腺增生的突变，该单倍型包含两个突变的类固醇21-羟化酶基因（CYP21）和一个假基因（CYP21P）。这种单倍型的存在使21-羟化酶缺乏症的遗传诊断和突变筛选变得复杂，我们展示了如何通过分别扩增和分析每个基因来解决这些基因型。在所有情况下，罕见的单倍型携带相同的致病突变组合；其中一个基因在2号内含子659碱基处发生剪接突变，另一个基因在8号外显子1999碱基处发生无义突变（CAG - TAG）。因此，我们描述了最常见的含有重复CYP21基因的单倍型。这种单倍型的频率很低，如果存在其他的单倍型，它们在这个群体中是罕见的。
We have defined the mutations causing congenital adrenal hyperplasia in three Swedish patients carrying a rare haplotype containing two mutated steroid 21-hydroxylase genes (CYP21) in addition to one pseudogene (CYP21P). The presence of such haplotypes complicates genetic diagnosis and screening of mutations in 21-hydroxylase deficiency, and we show how these genotypes can be resolved by amplification and analysis of each gene separately. In all cases, the rare haplotype carried the same combination of disease-causing mutations; one of the genes had the splice mutation at base 659 in intron 2, and the other had the nonsense mutation at base 1999 in exon 8 (CAG to TAG). We have thus characterized the most common haplotype containing duplicated CYP21 genes. The frequency of this haplotype is low, and if additional such haplotypes are present, they are rare in this population.