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目的探讨新疆维吾尔族儿童21-羟化酶缺乏症(21-OHD)基因突变规律及基因型和临床表型的关系。方法选取2013年10月至2014年10月就诊的20例维吾尔族21-OHD患儿为研究对象,联合应用全长直接测序法和多重连接依赖探针扩增技术检测21-羟化酶编码基因CYP21A2的突变类型,并按照基因突变类型将21-OHD患者分成不同的组别,比较预期的临床表型和实际临床表型的一致性。结果 20例患儿共发现9种突变,其中8种为已确定的致病突变,分别为Del、conv、I2g、I172N、Cluster E6、8-bp del、V281L、R356W,另1种突变为内含子5上的新发突变(c.648+37A>G),目前尚未有相关文献报道,暂不明确是否具有病理性意义。大部分根据基因突变类型预测的临床表型与实际的临床表型符合率较高(67%以上),根据P30L、V281L突变预测的临床表型与实际临床表型符合率较低(33%)。结论 21-OHD的基因型与表型有较好的相关性,通过检测患者的基因型可以预测疾病的临床表型;新发突变(c.648+37A>G)可能与21-OHD的发病有一定的关系。
Objective To investigate the relationship between 21-OHD gene mutation and genotype and clinical phenotype in Xinjiang Uygur children. Methods Twenty cases of Uygur 21-OHD patients from October 2013 to October 2014 were enrolled in this study. The full-length direct sequencing and multiplex-junction-dependent probe amplification were used to detect 21-hydroxylase gene CYP21A2 mutation types, and 21-OHD patients were divided into different groups according to the type of gene mutation to compare the expected clinical phenotype and the actual clinical phenotype consistency. Results A total of 9 mutations were found in 20 children, of which 8 were confirmed pathogenic mutations, namely Del, conv, I2g, I172N, Cluster E6, 8-bp del, V281L and R356W, There are no new reports on the new mutation (c.648 + 37A> G) in sub 5, but it is not clear whether it has pathological significance at the moment. Most of the clinical phenotypes predicted by gene mutation type had a high coincidence rate with the actual clinical phenotype (more than 67%), and the clinical phenotype predicted by the P30L and V281L mutations had a low coincidence rate (33%) with the actual clinical phenotype . Conclusion 21-OHD genotypes and phenotypes have a good correlation, by detecting the patient’s genotype can predict the clinical phenotype of the disease; new mutations (c.648 +37 A> G) may be associated with the incidence of 21-OHD Have a certain relationship.