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Volume 20, Issue 4 (July 2018) 20, 349–354; 10.4103/aja.aja_15_18

Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study

Dong-Mei Fu1, Yu-Lin Zhou1, Jing Zhao2, Ping Hu3, Zheng-Feng Xu3, Shi-Ming Lv4, Jun-Jie Hu4, Zhong-Min Xia1, Qi-Wei Guo1

1 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
2 Xiamen Kingnova Biological Technology Co., Ltd., Xiamen 361028, China
3 Center of Medical Genetics, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029, China
4 Clinical Analysis Center, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China

Correspondence: Dr. QW Guo (guoqiwei@gmail.com)

Date of Submission 20-Sep-2017 Date of Acceptance 10-Jan-2018 Date of Web Publication 30-Mar-2018


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/ZFY are 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.

Keywords: high-resolution melting; Klinefelter syndrome; multicenter study; postnatal population-based screening

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