ArticleAsian journal of andrology
Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study.
Article in Asian journal of andrology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Correlation of Obesity and Serum Vitamin D Levels with Sperm DNA Integrity, Sperm Quality, and Sperm Viability in Normozoospermia Men.Advanced biomedical research · 2022Article
- Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.Molecular genetics & genomic medicine · 2020Article
- Polymerase chain reaction-based assays facilitate the breeding and study of mouse models of Klinefelter syndrome.Asian journal of andrologyArticle
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Authors and funding
9 authors at 4 institutions in 1 country.
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Abstract
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.
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