[1]董步连,缑灵山,杨丽,等.徐州地区21-羟化酶缺乏症患儿遗传学及临床表型分析[J].徐州医科大学学报,2020,40(12):859-863.[doi:10.3969/j.issn.2096-3882.2020.12.001]
 Analysis of phynotypes and genotypes in patients with 21-hydroxylase deficiency in Xuzhou[J].Journal of Xuzhou Medical University,2020,40(12):859-863.[doi:10.3969/j.issn.2096-3882.2020.12.001]
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徐州地区21-羟化酶缺乏症患儿遗传学及临床表型分析()
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《徐州医科大学学报》[ISSN:2096-3882/CN:32-1875/R]

卷:
40
期数:
2020年12期
页码:
859-863
栏目:
出版日期:
2020-12-25

文章信息/Info

Title:
Analysis of phynotypes and genotypes in patients with 21-hydroxylase deficiency in Xuzhou
作者:
董步连 缑灵山 杨丽 齐素华 王传霞 顾茂胜 顾兵
徐州医科大学医学技术学院,江苏 徐州 221004;徐州市妇幼保健院遗传医学中心,江苏 徐州 221009;徐州市妇幼保健院遗传医学中心,江苏 徐州 221009;徐州医科大学医学技术学院,江苏 徐州 221004
关键词:
21-羟化酶缺乏症 CYP21A2 基因型 失盐型
DOI:
10.3969/j.issn.2096-3882.2020.12.001
文献标志码:
A
摘要:
目的 分析徐州地区21-羟化酶缺乏症(21-hydroxylase deficiency,21-OHD)患儿的基因型及基因突变频率特点,探讨基因型与临床表型的相关性.方法 回顾分析2016年6月至2019年6月于徐州市妇幼保健院就诊的16例21-OHD患儿的临床资料.采用Sanger测序和多重连接探针扩增技术,对21-羟化酶编码基因CYP21A2进行检测,并分析患儿临床表型与基因型的相关性.结果 16例患儿中均检测到2个等位基因的突变,共发现8种突变位点,均为已知的致病突变,包括c.293-13C>G、c.518T>A、Exon1-7del、Exon1-3del、c.1451_1452delinsC、c.1333C>T、E6 Cluster和c.1273G>A,其中突变位点c.1333C>T在国内人群中鲜见报道.所有突变均遗传自患儿父母,发生频率最高的突变为c.293-13C>G,占33.3%;其次为c.518T>A和Exon1-7del,分别占28.1%和15.6%.在16例患儿中,基因型可预测为失盐型(salt wasting,SW)的患儿8例,与患儿实际表型相符率为100%.另外8例患儿预测为单纯男性化型(simple virilizing,SV),其中7例患儿实际表型与预测表型一致,表型一致率为87.5%.结论 徐州地区发现的21-OHD患儿均为SW和SV型,最常见的变异位点为c.293-13C>G、c.518T>A和Exon1-7del,患儿的基因型预测表型与实际表型具有较好的一致性.
Abstract:
ob<x>jective To analyze the gene frequency and phenotypes of children with 21-hydroxylase deficiency (21-OHD), and to investigate the phenotype-genotype correlation of these patients. Methods We retrospectively analyze clinical information and biochemical results of patients in Xuzhou Maternity and Child Health Care Hospital from June, 201 6 to June, 2019. Genomic DNA was extracted from dried blood spot for mutations of CYP21A2 gene by Sanger sequencing and MLPA. Results In the 16 21-OHD patients, we found 8 pathogenic mutations, including c.293-13C>G, c.518T>A, Exon1-7del, Exon1-3del, c.1451_1452delinsC, c.1333C>T, E6 Cluster, and c.1273G>A , which all were biparently inherited. Among these mutations, c.1333C>T has not been found in Chinese populations until know. In this affected children, the most common mutation was c.293-13C>G (33.3%), following by c.518T>A (28.1%) and Exon1-7del (15.6%). Of these patients, the phenotypes of 8 patients can be predicted as salt wasting (SW), the consistent rate between the predicted phynotypes and acutal phynotypes was 100%. The phenotypes of other 8 patients can be predicted as simple virilizing (SV), with the consistent rate of 87.5%. Conclusion In this study, the phenotypes of children with 21-OHD were SW and SV. The common mutations in CYP21A2 gene were c.293-13C>G 、c.518T>A, and Exon1-7del. The genotypes of CYP21A2 has a good correlation with the actual phenotypes.
更新日期/Last Update: 2021-02-02