Detection of hemoglobin H disease by long molecule sequencing.
Detection of hemoglobin H disease by long molecule sequencing.
复制标题
DOI：
10.1002/jcla.24687
复制
发表时间：
2022-10
影响因子：
2.7
通讯作者：
Tian, Mao
中科院分区：
文献类型：
--
作者：
Li, Youqiong;Liang, Liang;Qin, Ting;Tian, Mao
血红蛋白H（Hb H）病是一种中度至重度的α地中海贫血（α塔尔），部分患者可能需要间歇性输血治疗，特别是在并发疾病期间。然而，罕见的Hb H疾病仍然无法使用常规方法检测范围之外。在这项研究中，我们提出了一种方法来检测Hb H疾病的长分子测序（LMS）。共收集了206个已知基因型样本，并在PacBio Sequel平台上通过LMS进行盲法检测。使用FreeBayes finished LMS将环状共有测序读数与hg 19参考基因组进行比对。LMS准确性将与常规方法进行比较，包括Gap-PCR和PCR-反向斑点杂交（PCR-RDB）。该检测方法可以检测缺失和点突变的携带者。与常规方法相比，其总体准确性为100%。此外，LMS检测到6个突变的基础上，常规方法和纠正3例结果。使用LMS鉴定Hb H疾病，无论是常见或罕见基因型，缺失或非缺失基因型。然而，2例Hb H病被误诊为常规方法。长分子测序可作为一种快速可靠的检测血红蛋白病可能携带者的方法。LMS准确地鉴定了Hb H疾病的常见和罕见基因型。在这项研究中，TGS可以检测缺失和点突变的携带者。与常规方法比较，总准确率为100%。使用TGS鉴定Hb H疾病，无论是常见或罕见基因型，缺失或非缺失基因型。然而，2例Hb H病被误诊为常规方法。TGS可作为一种快速、可靠的检测Hb H疾病的方法。
Hemoglobin H (Hb H) disease is a moderate‐to‐severe form of α‐thalassemia (α‐thal), and parts of patients may require intermittent transfusion therapy, especially during intercurrent illness. However, rare Hb H diseases remain undetected using routine methods being outside of the testing scope. In this study, we present an approach to detecting Hb H disease by long molecule sequencing (LMS). A total of 206 known genotype samples were collected and carried to blind detected by LMS on the PacBio Sequel platform. Circular consensus sequencing reads were aligned to the hg19 reference genome using Free‐Bayes finished LMS. LMS accuracy would be compared with routine methods, including Gap‐PCR and PCR‐Reverse dot blot hybridization (PCR–RDB). The assay could detect carriers of both deletion and point mutations. It had an overall accuracy of 100% when compared with routine methods. In addition, LMS detected six mutations based on routine methods and corrected three case results. Hb H diseases were identified using LMS, whether a common or rare genotype, a deletion or non‐deletion genotype. However, two cases of Hb H disease were misdiagnosed using routine methods. Long molecule sequencing can be suggested as a rapid and reliable assay to detect probable carriers of hemoglobinopathies. LMS accurately identified the common and rare genotypes of Hb H disease. In this study, TGS could detect carriers of both deletion and point mutations. It had an overall accuracy of 100% when compared with the routine methods. Hb H diseases were identified using TGS, whether a common or rare genotype, a deletion or non‐deletion genotype. However, two cases of Hb H disease were misdiagnosed using routine methods. TGS can be suggested as a rapid and reliable assay to detect probable Hb H diseases.
登录
查看更多内容
影响因子：
2.7
作者：
Wang M;Zhang X;Zhao Y;Lu Z;Xiao M
通讯作者：
Xiao M
影响因子：
1
作者：
Ju, Ai-Ping;Jiang, Fan;Li, Dong-Zhi
通讯作者：
Li, Dong-Zhi
影响因子：
1
作者：
Moore, Jordyn A.;Pullon, Beverley M.;Brennan, Stephen O.
通讯作者：
Brennan, Stephen O.
影响因子：
4.1
作者：
Xu, Liangpu;Mao, Aiping;Cao, Hua
通讯作者：
Cao, Hua
DOI：
10.1182/asheducation-2009.1.26
发表时间：
2009-01-01
期刊：
Hematology. American Society of Hematology. Education Program
影响因子：
--
作者：
Fucharoen, Suthat;Viprakasit, Vip
通讯作者：
Viprakasit, Vip