Lo Fu-Sung, Luo Ji-Dung, Lee Yann-Jinn, Shu San-Ging, Kuo Min-Tzu, Chiou Chiuan-Chian
Division of Pediatric Endocrinology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Clin Chim Acta. 2009 Nov;409(1-2):75-7. doi: 10.1016/j.cca.2009.08.021. Epub 2009 Sep 6.
Noonan syndrome (NS, OMIM 163950) is a relatively common autosomal dominant disorder and has significant phenotypic overlap with Costello Syndrome and cardio-facio-cutaneous syndrome. Molecular diagnosis is useful for differential diagnosis. PTPN11 gene mutation is the most common mutation associated with NS and hence is a suitable target for molecular diagnostics.
High resolution melting (HRM) analysis was used for screening of PTPN11 mutations. Eleven DNA samples with 10 known PTPN11 mutations were used for HRM calibration. Said calibrations were then applied to mutation screening of a panel of 50 additional NS patients.
HRM analysis differentiated all of the 10 known mutations and identified 9 additional mutations from 10 patients in the blind study, which is in line with results obtained by sequencing.
HRM analysis is a rapid, reliable, and low-cost tool for detection of PTPN11 genetic variants.
努南综合征（NS，OMIM 163950）是一种相对常见的常染色体显性疾病，与科斯特洛综合征和心脏-面部-皮肤综合征存在显著的表型重叠。分子诊断有助于鉴别诊断。蛋白酪氨酸磷酸酶非受体型11（PTPN11）基因突变是与努南综合征相关的最常见突变，因此是分子诊断的合适靶点。
采用高分辨率熔解（HRM）分析筛选PTPN11突变。使用11个含有10种已知PTPN11突变的DNA样本进行HRM校准。然后将上述校准应用于另外50例努南综合征患者的突变筛查。
HRM分析区分了所有10种已知突变，并在盲法研究中从10例患者中鉴定出另外9种突变，这与测序结果一致。
HRM分析是一种快速、可靠且低成本的检测PTPN11基因变异的工具。
