多重连接依赖探针扩增技术筛查Turner综合征的可行性
| 作者: |
1李旗,
1解淑钰,
2司彩云,
3陶月红
1 大连医科大学研究生院，辽宁 大连 116000 2 扬州大学医学院研究生院，江苏 扬州 225001 3 扬州大学临床医学院儿科，江苏省苏北人民医院，江苏 扬州 225001 |
| 通讯: |
陶月红
Email: ektyh520@163.com |
| DOI: | 10.3978/j.issn.2095-6959. 2018.12.020 |
| 基金: | 江苏省“六大人才高峰”项目(2015-WSN-109)；扬州市英才培育对象课题(yzycpyjH2013087)；金赛药业中青年内分泌医师科研基金( JSYY2015023)。 |
摘要
目的：探究多重连接依赖探针扩增技术(multiple ligation-dependent probe amplification，MLPA)在筛查Turner综合征(Turner syndrome，TS)染色体异常的可行性。方法：收集88例临床诊断矮小症女童的外周血进行MLPA检测及外周血细胞核型分析，采用Fisher确切概率检验对2种方法诊断TS的结果进行差异性分析。结果：88例女童中14例确诊为TS，其中外周血核型分析异常14例(13例为TS，1例为常染色体异常)，检测TS灵敏度为92.8%；MLPA检出异常14例(13例TS，1例X染色体部位疑似男性，Y染色体重复)，检测灵敏度为100%。2种检测方法的特异度均为100%。采用Fisher确切概率对两种方法的检测灵敏度进行分析，二者无显著差异(P=0.5)。结论：与外周血细胞核型分析相比，MLPA具有更经济、高效、操作难度较低等优点，且对TS的检测灵敏度和特异度无统计学差异，可作为TS的筛查方法。
关键词：
Turner综合征；多重连接依赖探针扩增技术；细胞核型分析；矮小；女童
Feasibility of multiplex ligation dependent probe amplification in screening for Turner syndrome
CorrespondingAuthor: TAO Yuehong Email: ektyh520@163.com
DOI: 10.3978/j.issn.2095-6959. 2018.12.020
Foundation: This work was supported by the Jiangsu Province “Six Talents Peak” Project Foundation (2015-WSN-109), Cultivating Talents Project in Yangzhou (yzycpyjH2013087) and Research Fund for Young Endocrinologists in Gensci Pharmaceutical Co. Ltd ( JSYY2015023) China.
Abstract
Objective: To study the feasibility of MLPA in screening chromosomal abnormalities in Turner syndrome (TS). Methods: The peripheral blood of 88 children with clinically diagnosed dwarfism were collected for MLPA detection and the karyotype analysis of peripheral blood cells. The sensitivity differences of the two methods in the diagnosis of TS were analyzed using Fisher’s exact test. Results: Of the 88 girls, 14 were diagnosed with TS, 14 were detected abnormal by peripheral blood karyotype analysis (13 of TS, 1 of autosomal abnormality), the sensitivity was 92.8%, and 14 were detected by MLPA (13 of TS, 1 of X chromosomes, Y chromosome duplication), and the sensitivity of the test was 100%. The specificity of the two detection methods was 100%. Fisher’s exact probability was used to analyze the sensitivity of the two methods. The P value of unilateral test was 0.5, and there was no significant difference between the two methods. Conclusion: Compared with the karyotype analysis of peripheral blood cells, MLPA has the advantages of more economical and more efficient, and has lower difficulty in operation, and there is no significant difference in sensitivity and specificity for the detection of TS. It is suitable for the screening of TS.
Keywords：
Turner syndrome; multiplex ligation dependent probe amplification; cell karyotype analysis; dwarfism; girl