应用数字液滴聚合酶链反应检测纤维性骨发育不良和 McCune-Albright 综合征患者全血 DNA 或循环无细胞游离 DNA 中的镶嵌 GNAS 突变。
Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome.
机构信息
Aix Marseille Univ, APHM, INSERM, MMG, Hôpital de la Conception, Laboratory of Molecular Biology, Marseille, France.
Département de Biochimie et Hormonologie, Hôpital Lapeyronie, CHU Montpellier and Institut de Génétique Humaine, UMR 9002 CNRS-Université de Montpellier, France.
出版信息
J Pediatr. 2019 Feb;205:281-285.e4. doi: 10.1016/j.jpeds.2018.09.070. Epub 2018 Nov 13.
The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase chain reaction detects GNAS mutations in 7 of 12 patients (58.3%) suspected to have fibrous dysplasia/MAS from whole blood DNA, and in 4 of 5 patients (80%) from circulating cell-free DNA.
GNAS 后合子镶嵌激活突变涉及纤维结构不良和 McCune-Albright 综合征（MAS），不能通过 Sanger 测序在白细胞中检测到。数字液滴聚合酶链反应从全血 DNA 中检测到 12 名疑似纤维结构不良/MAS 的患者中的 7 名（58.3%）和 5 名循环无细胞 DNA 中的 4 名（80%）存在 GNAS 突变。
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