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首页> 外文期刊>Balkan journal of medical genetics: BJMG >INTRON 2 SPLICE MUTATION AT CYP21 GENE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA IN THE REPUBLIC OF MACEDONIA
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INTRON 2 SPLICE MUTATION AT CYP21 GENE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA IN THE REPUBLIC OF MACEDONIA

机译：马其顿共和国先天性肾上腺增生症患者CYP21基因的INTRON 2突变

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摘要

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. In 90-95% of cases it results from mutations in the gene for 21-hydroxylase (CYP21, also termed CYP21A2 and P450c21). The IVS-II-656 (C/A>G) mutation leaves -2.0% enzyme activity, and comprises 25% of the classic CYP21 deficiency alleles and 51% of alleles in the salt-wasting form.We performed direct molecular diagnosis of the IVS-II mutation in 41 Macedonian patients with different clinical forms of CAH and 55 of their healthy parents and siblings from 37 unrelated families, using the differential polymerase chain reaction/amplification created restriction site method (PCR/ACRS). The IVS-II mutation was detected in 41.5% patients (29.3% were homozygotes and 12.2% were heterozygotes). All homozygotes had a severe classical CAH phenotype (of which 91.7% were salt-wasting and 8.3% were simple virilizing). Three of the heterozygotes had a salt-wasting (SW) phenotype and were compound heterozygotes. The IVS-II mutation was also found in 30.9% of the family members (18.2% were homozygous and 12.7% were heterozygous) and none had any clinical manifestation. The frequency of the IVS-II mutation (41.5%) in these subjects was similar to that reported elsewhere.
机译：先天性肾上腺皮质增生（CAH）是一种常染色体隐性疾病。在90-95％的情况下，它是由21-羟化酶（CYP21，也称为CYP21A2和P450c21）的基因突变引起的。 IVS-II-656（C / A> G）突变使酶活性降低-2.0％，并包含25％的经典CYP21缺乏等位基因和51％的盐浪费形式的等位基因。使用差异聚合酶链反应/扩增创建的限制性酶切位点方法（PCR / ACRS），对41名患有不同临床形式的CAH的马其顿患者及其55个健康父母和37个无关家庭的兄弟姐妹进行IVS-II突变。在41.5％的患者中检测到IVS-II突变（29.3％为纯合子，12.2％为杂合子）。所有纯合子均具有严重的经典CAH表型（其中91.7％的盐消耗了，8.3％的简单消毒）。杂合子中的三个具有盐浪费（SW）表型，是复合杂合子。在30.9％的家庭成员中也发现了IVS-II突变（纯合子为18.2％，杂合子为12.7％），并且没有任何临床表现。这些受试者中IVS-II突变的频率（41.5％）与其他地方报道的频率相似。

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