摘要
目的分析宁波地区21-羟化酶缺乏症(21-OHD)患者CYP21A2基因的突变类型与突变频率,探讨患者基因型与临床表型的关系。方法收集2018年11月至2021年7月在宁波市妇女儿童医院就诊的9例21-羟化酶缺乏症的患者。应用Sanger测序和多重连接依赖探针扩增技术(MLPA)对CYP21A2基因进行检测,并对CYP21A2基因型和临床表型进行研究。结果在9例患儿中,4例为失盐型,3例为单纯男性化型,2例为非经典型。经Sanger测序和MLPA检测,3例患者检出CYP21A2基因纯合突变,4例患者检出CYP21A2基因复合杂合突变,1例患者CYP21A2基因完全缺失和1例患者CYP21A2基因杂合缺失合并CYP21A2基因杂合突变。在CYP21A2基因中共检出8种突变,最常见的突变为c.293-13C>G(I2G),占33.3%。9例患者基因型预测的表型与实际临床表型一致率为88.9%。结论Sanger测序法联合MLPA技术对CYP21A2基因进行检测,可同时检测出点突变和大片段缺失,提高21-OHD的诊断率;宁波地区21-羟化酶缺乏症的患者最常见的CYP21A2基因突变为I2G;基因型与临床表型有较好的一致性。
Objective To analyze the mutation type and mutation frequency of CYP21A2 gene in patients with 21 hydroxylase deficiency in Ningbo,and to explore the relationship between genotype and clinical phenotype.Methods Nine patients with 21-hydroxylase deficiency who were treated in Ningbo Women&Children’s Hospital from November 2018 to July 2021 were collected.The CYP21A2 gene was detected by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA),and the CYP21A2 genotype and clinical phenotype were studied.Results Among the 9 children,4 were diagnosed as salt loss type,3 were diagnosed as simple masculinity type and 2 were diagnosed as nonclassical type.By Sanger sequencing and MLPA detection,3 patients had homozygous mutations in CYP21A2 gene,4 patients had compound heterozygous mutations in CYP21A2 gene,1 patient had complete deletion of CYP21A2 gene and 1 patient had heterozygous deletion of CYP21A2 gene combined with heterozygous mutations in CYP21A2 gene.Eight mutation sites were found in CYP21A2gene,and the most common mutation site was c.293-13C>G(I2G),accounting for 33.3%.The concordance rate between the predicted phenotype and the actual clinical phenotype of 9 patients was 88.9%.Conclusion Sanger sequencing combined with MLPA technology to detect CYP21A2 gene can simultaneously detect point mutations and large deletions,and improve the diagnostic rate of 21-OHD.The most common CYP21A2 gene mutation in patients with 21 hydroxylase deficiency in Ningbo was I2G.There was a good agreement between genotype and clinical phenotype.
作者
葛丽莎
潘澍青
潘小莉
李海波
GE Lisha;PAN Shuqing;PAN Xiaoli;LI Haibo(Key Laboratory of Integrated Prevention and Treatment of Birth Defects,Ningbo Women&Children’s Hospital,Ningbo,Zhejiang 315000,China)
出处
《中国优生与遗传杂志》
2023年第2期319-323,共5页
Chinese Journal of Birth Health & Heredity
基金
宁波市科技计划项目(202003N4223,202002N3150)。
作者简介
通讯作者:李海波,lihaibo-775@163.com。
