Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay： a multicenter study
Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay： a multicenter study作者机构：United Diagnostic and Research Center for Clinical Genetics School of Public Health of Xiamen University and Xiamen Maternal and Child Health Hospital Xiamen 361003 China Xiamen Kingnova Biological Technology Co. Ltd. Xiamen 361028 China Center of Medical Genetics Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University Nanjing 210029 China Clinical Analysis Center Women's Hospital School of Medicine Zhejiang University Hangzhou 310006 China
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)
年 卷 期：2018年第20卷第4期
页 面：349-354页
核心收录：
学科分类：0710[理学-生物学] 090603[农学-临床兽医学] 071010[理学-生物化学与分子生物学] 1002[医学-临床医学] 081704[工学-应用化学] 07[理学] 08[工学] 0817[工学-化学工程与技术] 09[农学] 0906[农学-兽医学]
基 金：supported by the Grants from National Science Foundation for Young Scholars of China the Natural Science Foundation for Distinguished Young Scholars of Fujian Province 福建省自然科学基金 the Key Project of Fujian Province Young and Middle-aged Key Personnel Training the Key Projects of Major Diseases in Xiamen
主 题：high-resolution melting Klinefelter syndrome multicenter study postnatal population-based screening
摘 要：Klinefelter syndrome （KS） is the set of symptoms that result from the presence of an extra X chromosome in males. Postnatal population-based KS screening will enable timely diagnosis of this common chromosomal disease, providing the opportunity for early intervention and therapy at the time point when they are most effective and may prevent later symptoms or complications. Therefore, through this study, we introduced a simple high-resolution melting （HRM） assay for KS screening and evaluated its clinical sensitivity and specificity in three medical centers using 1373 clinical blood samples. The HRM assay utilized a single primer pair to simultaneously amplify specific regions in zinc finger protein, X-linked （ZFX） and zinc finger protein, Y-linked （ZFY）. In cases of KS, the ratios of ZFX/ZFYare altered compared to those in normal males. As a result, the specific melting profiles differ and can be differentiated during data analysis. This HRM assay displayed high analytical specificity over a wide range of template DNA amounts （5 ng-50 ng） and reproducibility, high resolution for detecting KS mosaicism, and high clinical sensitivity （100%） and specificity （98.1%）. Moreover, the HRM assay was rapid （2 h per run）, inexpensive （0.2 USD per sample）, easy to perform and automatic, and compatible with both whole blood samples and dried blood spots. Therefore, this HRM assay is an ideal postnatal population-based KS screening tool that can be used for different age groups.
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