Use of the STR loci D18S53, D18S59, and D18S488 in the diagnosis of Edwards' syndrome

Ying Zhang; Xiaozhou Li; Lijuan Sun; Yunfang Shi; Duan Ju; Yan Li; Tianfu Yue

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자료유형: 학술저널

저자정보: Ying Zhang (Tianjin Medical University General Hospital) Xiaozhou Li (Tianjin Medical University General Hospital) Lijuan Sun (Tianjin Medical University General Hospital) Yunfang Shi (Tianjin Medical University General Hospital) Duan Ju (Tianjin Medical University General Hospital) Yan Li (Tianjin Medical University General Hospital) Tianfu Yue (Tianjin Medical University General Hospital)

저널정보: 한국유전학회 Genes & Genomics Genes & Genomics Vol.38 No.7

발행연도: 2016.1

수록면: 639 - 644 (6page)

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The aim of this study was to investigate the feasibility of using short tandem repeats (STRs) to diagnose Edwards’ syndrome (ES). Quantitative fluorescence polymerase chain reaction (QF-PCR) was performed to amplify STR loci on chromosome 18, specifically D18S53, D18S59, and D18S488. The amplified products were subjected to a fluorescence signal analysis and their application to ES diagnosis was examined. Among the 807 cases that showed normal results in the karyotype analysis, 793 showed one or two fluorescence bands with a fluorescence intensity ratio of 1:1, and 14 cases showed 3 bands, which were false-positive results. ES was diagnosed in 9 samples. The sensitivities of D18S53, D18S59, and D18S488 for the diagnosis of ES were 77.78, 44.44, and 55.56 % and the specificities were 96.16, 96.03, and 96.28 %, respectively. The combined sensitivity of the three loci for diagnosing DS was 100 % (9/9), with a specificity of 98.27 % (793/ 807). QF-PCR amplification of STR loci had high sensitivity, strong specificity, and was simple and rapid. Thus, it might have wide clinical applications, and could be an ideal tool for large-scale genetic and prenatal diagnosis of ES.

참고문헌 (23)

참고문헌 신청

Bruns DA / 2010 / Neonatal experiences of newborns with full trisomy 18 / Adv Neonatal Care 10:25~31

Cereda A / 2012 / The trisomy 18 syndrome / Orphanet J Rare Dis 7:81

Cirigliano V / 2009 / Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience / Prenat Diagn 29:40~49

Elsayed GM / 2013 / The importance of rapid aneuploidy screening and prenatal diagnosis in the detection of numerical chromosomal abnormalities / Springerplus 2:490

Gekas J / 2011 / Rapid testing versus karyotyping in Down’s syndrome screening: costeffectiveness and detection of clinically significant chromosome abnormalities / Eur J Hum Genet 19:3~9

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