Open AccessRapid Screening for Deleted Form of β‐thalassemia by Real‐Time Quantitative PCR
Author(s) -
Ke LiangYin,
Chang JanGowth,
Chang ChaoSung,
Hsieh LiLing,
Liu TaChih
Publication year - 2017
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.22019
Subject(s) - thalassemia , mutation , biology , genetics , prenatal diagnosis , real time polymerase chain reaction , gene , medicine , fetus , pregnancy
Background Thalassemia is the most common single gene disease in human beings. The prevalence rate of β‐thalassemia in Taiwan is approximately 1–3%. Previously methods to reveal and diagnose severe deleted form of α‐ or β‐thalassemia were insufficient and inappropriate for prenatal diagnosis. Methods A real‐time quantitative PCR method was set up for rapid screening of the deleted form of β‐thalassemia. Results Our results show that ΔΔ C t between deleted form of β‐thalassemia and normal individuals were 1.0674 ± 0.0713. On the contrary, mutation form β‐thalassemia showed no difference with normal healthy control. The HBB/CCR5 ratio for deleted form of β‐thalassemia patients was 0.48, whether normal individuals and mutation form of β‐thalassemia was 1.0. Conclusion This RQ‐PCR technique is an alternative rapid screening assay for deleted form of β‐thalassemia. In addition, it could also identify undefined type. Our technique by using RQ‐PCR to quantify gene copies is a reliable and time‐saving method that can screen deleted form of β‐thalassemia.