应用单分子实时技术（SMRT）鉴定 HKαα 地贫等位基因。
Application of the Single-Molecule Real-Time Technology (SMRT) for Identification of HKαα Thalassemia Allele.
机构信息
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Department of Clinical Laboratorial Examination, The First Hospital Affiliated to Fujian Medical University, Fuzhou, China.
出版信息
Lab Med. 2023 Jan 5;54(1):65-71. doi: 10.1093/labmed/lmac065.
OBJECTIVE
Single-molecule real-time technology (SMRT) is a sequencing technology using the DNA polymerases and fluorescently tagged nucleotides to accurately sequence DNA strands. The purpose of this study was to evaluate the detection accuracy of SMRT for identification of the Hong Kongαα (HKαα) thalassemia allele.
METHODS
We conducted a blinded study of 33 samples of known HKαα alleles. These alleles were detected using SMRT to evaluate accuracy.
RESULTS
We conducted a blinded study of 33 known HKαα samples and found all HKαα variants detected by SMRT to be concordant with those independently assigned by gap-polymerase chain reaction (gap-PCR), reverse dot blot hybridization, and 2-round nested PCR. In addition, SMRT detected 2 β-thalassemia variants that were missed by conventional techniques.
CONCLUSION
The results demonstrate that SMRT offers a higher detection accuracy of thalassemia rare and new loci. It is an efficient, reliable, and broad-spectrum test that can be widely used for thalassemia screening in the clinic.
目的
单分子实时技术（SMRT）是一种测序技术，它使用 DNA 聚合酶和荧光标记的核苷酸来准确地测序 DNA 链。本研究旨在评估 SMRT 检测香港αα（HKαα）地中海贫血等位基因的准确性。
方法
我们对 33 个已知的 HKαα 等位基因样本进行了盲法研究。使用 SMRT 检测这些等位基因，以评估其准确性。
结果
我们对 33 个已知的 HKαα 样本进行了盲法研究，发现所有由 SMRT 检测到的 HKαα 变体都与通过 gap-聚合酶链反应（gap-PCR）、反向点杂交和 2 轮巢式 PCR 独立分配的结果一致。此外，SMRT 还检测到了 2 种常规技术漏检的β-地中海贫血变体。
结论
结果表明，SMRT 提供了更高的地中海贫血罕见和新位点的检测准确性。它是一种高效、可靠和广谱的检测方法，可广泛应用于临床地中海贫血筛查。
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