Application of the Single-Molecule Real-Time Technology (SMRT) for Identification of HKαα Thalassemia Allele

被引：3

作者：

Zhang, Min ^{[1
]}

Lin, Zhaodong ^{[2
]}

Chen, Meihuan ^{[1
]}

Pan, Yali ^{[3
]}

Zhang, Yanhong ^{[4
]}

Chen, Lingji ^{[1
]}

Lin, Na ^{[1
]}

Ren, Yuanyuan ^{[5
]}

Jia, Hongjin ^{[5
]}

Cai, Meiying ^{[1
]}

Xu, Liangpu ^{[1
]}

Huang, Hailong ^{[1
]}

机构：

[1] Fujian Med Univ, Med Genet Diag & Therapy Ctr, Fujian Matern & Child Hlth Hosp Coll Clin Med Obst, Fujian Prov Key Lab Prenatal Diag & Birth Defect, Fuzhou, Peoples R China

[2] Fujian Med Univ, Dept Clin Laboratorial Examinat, Hosp Affiliated 1, Fuzhou, Peoples R China

[3] Fujian Med Univ, Med Technol & Engn Coll, Fuzhou, Peoples R China

[4] Fujian Univ Tradit Chinese Med, Fuzhou, Peoples R China

[5] Berry Genom Corp, Beijing, Peoples R China

来源：

LABORATORY MEDICINE | 2023年 / 54卷 / 01期

基金：

中国国家自然科学基金;

关键词：

single-molecule real-time technology (SMRT); Hong Kong alpha alpha; thalassemia; genetic diagnosis; alpha-globin; gap-PCR; FREQUENCIES; VARIANTS; CARRIERS;

D O I：

10.1093/labmed/lmac065

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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 Kong alpha alpha (HK alpha alpha) thalassemia allele. Methods: We conducted a blinded study of 33 samples of known HK alpha alpha alleles. These alleles were detected using SMRT to evaluate accuracy. Results: We conducted a blinded study of 33 known HK alpha alpha samples and found all HK alpha alpha 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 beta-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.

引用

页码：65 / 71

页数：7

共 23 条

[1] Molecular Characteristics of Hb New York [113(G15)ValGlu, HBB: c.341T>A] in Thailand [J].