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目的了解21-羟化酶缺乏症(21-OHD)患儿CYP21A2基因突变热点,并分析其基因型和表型的关系。方法对在新生儿17α羟孕酮(17-αOHP)筛查中发现并诊断的18例21-OHD患儿及其父母,采用等位基因特异性PCR-直接测序联合多重连接依赖探针扩增技术测定其基因型。结果共检出6种CYP21A2基因突变类型,最常见的为I2G(44.4%)和de(l33.3%),这两种也是失盐型常见的突变;单纯男性化型患儿I172N突变检出率达75%。根据对21-羟化酶活性影响程度将患儿分为重度、中度和轻度组,三组间反映病情严重性的指标17-αOHP、促肾上腺皮质激素、睾酮的差异均有统计学意义(P<0.05)。结论 21-OHD基因诊断技术的建立揭示了基因型和临床表型的一致性。
Objective To investigate the hot spots of CYP21A2 gene mutations in 21-OHDA patients and to analyze the relationship between the genotypes and phenotypes. Methods Eighteen patients with 21-OHD and their parents who were found and diagnosed in 17α-OHP screening of newborns were detected with allele-specific PCR-direct sequencing and multiplex-junction-dependent amplification Technical determination of its genotype. Results A total of 6 CYP21A2 gene mutations were detected, the most common being I2G (44.4%) and de (33.3%), both of which were also common salt-losing mutations. The mutation of I172N Rate of 75%. According to the degree of 21-hydroxylase activity in children will be divided into severe, moderate and mild group, between the three groups reflect the severity of the indicators 17-αOHP, adrenocorticotropic hormone, testosterone differences were statistically significant (P <0.05). Conclusion The establishment of 21-OHD gene diagnostic technique revealed the consistency of genotypes and clinical phenotypes.