[1]张芃胤,权 静,肖艳群,等.上海地区临床实验室运动神经元存活基因外显子缺失项目检测能力的室间质量评价分析[J].现代检验医学杂志,2024,39(06):223-228.[doi:10.3969/j.issn.1671-7414.2024.06.039]
　ZHANG Pengyin,QUAN Jing,XIAO Yanqun,et al.External Quality Assessment for Deletion of Exons in the Survival Motor Neuron Gene in Clinical Laboratories of Shanghai[J].Journal of Modern Laboratory Medicine,2024,39(06):223-228.[doi:10.3969/j.issn.1671-7414.2024.06.039]
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上海地区临床实验室运动神经元存活基因外显子缺失项目检测能力的室间质量评价分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第39卷
期数:
2024年06期
页码:
223-228
栏目:
质量控制·实验室管理
出版日期:
2024-11-15

文章信息/Info

Title:
External Quality Assessment for Deletion of Exons in the Survival Motor Neuron Gene in Clinical Laboratories of Shanghai
文章编号:
1671-7414（2024）06-223-06
作者:
张芃胤; 权 静; 肖艳群; 鲍 芸
（上海市临床检验中心分子生物学室，上海 200126）
Author(s):
ZHANG Pengyin; QUAN Jing; XIAO Yanqun; BAO Yun
（Department of Molecular Biology，Shanghai Center for Clinical Laboratory，Shanghai 200126，China）
关键词:
脊髓性肌萎缩症; 运动神经元存活基因; 外显子缺失; 室间质量评价
分类号:
R446
DOI:
10.3969/j.issn.1671-7414.2024.06.039
文献标志码:
A
摘要:
目的 利用室间质量评价（EQA）分析上海地区临床实验室运动神经元存活（survival motor neuron，SMN）基因外显子缺失项目的检测能力。方法 选用含有不同SMN 外显子拷贝数的细胞株基因组DNA 作为EQA 样本，2023年间共两次，每次随机选取5 份发放给上海地区各参评实验室，要求其在规定时间内进行检测并上传结果，依据回报结果统计分析并评价其检测能力。结果 两次EQA 中SMN1 判定结果回报全部正确的实验室分别占100%（38/38）和97.22%（35/36）， SMN1 第7，8 号外显子拷贝数检测的总体符合率分别为96.92%（315/325）和98.18%（324/330），SMN2 第7，8 号外显子拷贝数检测的总体符合率分别为100%（65/65）和96.56%（43/45）。回报错误结果中包括1 例结果判定错误和4 例拷贝数检测错误。结论 通过筛选出具有不同SMN 外显子拷贝数的细胞株基因组DNA 可有效模拟临床样本并应用于SMN 外显子缺失EQA 活动中。回报结果分析显示上海地区临床实验室SMN 外显子缺失项目整体符合率较高，但个别实验室检测能力尚待提高。
Abstract:
Objective To analyze the detection ability of survival motor neuron（SMN）gene deletion of exons in clinical laboratories in Shanghai using external quality assessment（EQA）. Methods Genomic DNA from the cell lines containing different SMN exon copy numbers were selected as EQA samples. The EQA sample panel, which consisted of 5 samples, was randomly selected twice and distributed to participating laboratories in Shanghai in 2023. The seresults were required to be conducted and uploaded within the specified time. Based on the reported results, statistical analysis was performed and the detection ability was evaluated. Results In the two EQA, laboratory that submitted all correct results for SMN1 accounted for 100%（38/38）and 97.22%（35/36）, respectively. The overall coincidence rates were 96.92%（315/325）and 98.18%（324/330） for copy number detection of SMN1 exon 7 and 8，100%（65/65）and 96.56%（43/45）for copy number detection of SMN2 exon 7 and 8. The reported error results included case of result judgment error and 4 cases of copy number detection errors. Conclusion Screening genomic DNA from the cell lines containing different SMN exon copy numbers can effectively simulate the clinical samples,which can be applied to EQA material for deletion of exons in the SMN gene. The reported results show that the overall compliance rate of SMN deletion of exons in clinical laboratories in Shanghai is relatively high, but the testing capabilities of some laboratories still need to be improved.

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备注/Memo

备注/Memo:
基金项目：上海市“医苑新星”青年医学人才培养资助计划（沪卫人事〔2022〕65 号）；上海市临床检验中心学科人才培养计划（2024RCJH-02）。
作者简介： 张芃胤（1984-），男，硕士，主管技师，研究方向：临床分子生物学检测及质量控制工作， E-mail:zhangpengyin@sccl.org.cn。
通讯作者：鲍芸（1983-），女，博士，副主任技师，研究方向：临床实验室管理工作，E-mail:baoyun@sccl.org.cn。
更新日期/Last Update: 2024-11-15