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该文检测了1例先天性肾上腺皮质增生症(CAH)小儿及其父母CYP21A2基因突变,复习该病的临床特征、治疗监测及分子遗传机制。采用QIAGEN Blood DNA Mini kit提取外周血DNA,根据CYP21A2基因与其假基因间的基因序列差异设计高特异性的PCR引物,用PrimeSTAR DNA聚合酶(TAKARA)扩增CYP21A2基因全长,并对扩增产物进行直接测序,分析检测CYP21A2基因突变。该患儿36日龄,临床诊断为CAH(21-羟化酶缺乏失盐型),至1岁6个月龄进行了基因诊断证实。该先证者为CYP21第2内含子c.293-13C位点突变,先证者为纯合子,其父母均为杂合子。该病尽早确诊及规范治疗,可避免发生失盐危象,减少病死率;避免骨龄老化,改善成年终身高;避免成年后生育功能障碍。通过对CAH分子遗传机制的了解,可提高对该病的再认识,优化确诊方法;同时对于先证者家系的携带者诊断及遗传咨询具有重要的临床价值。
In this paper, one case of congenital adrenal hyperplasia (CAH) in children and their parents CYP21A2 gene mutation, review of the clinical features, treatment monitoring and molecular genetic mechanism. The peripheral blood DNA was extracted from QIAGEN Blood DNA Mini kit. High-specificity PCR primers were designed according to the sequence difference between CYP21A2 gene and its pseudogenes. The full-length CYP21A2 gene was amplified with PrimeSTAR DNA polymerase (TAKARA) Direct sequencing, analysis and detection of CYP21A2 gene mutation. The 36-day-old child, the clinical diagnosis of CAH (21-hydroxylase-deficient salt-type), to 1 year old 6 months of age were confirmed by genetic diagnosis. The proband was CYP21 2 intron c.293-13C site mutation, the proband was homozygous, the parents are heterozygous. Early diagnosis and standard treatment of the disease can avoid salt crisis crisis, reduce mortality; to avoid aging bone age and improve adult life-long height; to avoid adult reproductive dysfunction. By understanding the molecular genetic mechanism of CAH, it is possible to improve the understanding of the disease and optimize the diagnosis method. At the same time, it has important clinical value for the diagnosis and genetic counseling of carriers of proband family.