Belmonte Irene, Barrecheguren Miriam, Esquinas Cristina, Rodríguez Esther, Miravitlles Marc, Rodríguez-Frías Francisco
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Clin Chem Lab Med. 2017 Aug 28;55(9):1276-1283. doi: 10.1515/cclm-2016-0842.
α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are usual. The aim of this study was to validate the use of buccal swab samples and serum circulating DNA for the complete laboratory study of AATD.
Sixteen buccal swab samples from previously characterized AATD patients were analyzed using an allele-specific genotyping assay and sequencing method. In addition, 19 patients were characterized by quantification, phenotyping and genotyping using only serum samples.
The 16 buccal swab samples were correctly characterized by genotyping. Definitive results were obtained in the 19 serum samples analyzed by quantification, phenotyping and genotyping, thereby performing the complete AATD diagnostic algorithm.
Buccal swab samples may be useful to expand AATD screening programs and family studies. Genotyping using DNA from serum samples permits the application of the complete diagnostic algorithm without delay. These two methods will be useful for obtaining more in depth knowledge of the real prevalence of patients with AATD.
α1-抗胰蛋白酶缺乏症（AATD）与发生肺部和肝脏疾病的高风险相关。尽管AATD是全球最常见的遗传性疾病之一，但它仍未得到充分诊断，诊断通常会出现长时间延误。本研究的目的是验证使用颊拭子样本和血清循环DNA对AATD进行完整实验室研究的可行性。
使用等位基因特异性基因分型检测和测序方法对16例先前已确诊的AATD患者的颊拭子样本进行分析。此外，仅使用血清样本对19例患者进行定量、表型分析和基因分型。
通过基因分型正确鉴定了16例颊拭子样本。对19份血清样本进行定量、表型分析和基因分型后获得了明确结果，从而完成了完整的AATD诊断算法。
颊拭子样本可能有助于扩大AATD筛查项目和家族研究。使用血清样本中的DNA进行基因分型可立即应用完整的诊断算法。这两种方法将有助于更深入了解AATD患者的实际患病率。
