Rapid Screening for Deleted Form of ?-thalassemia by Real-Time Quantitative PCR.

ABSTRACT: BACKGROUND:Thalassemia is the most common single gene disease in human beings. The prevalence rate of ?-thalassemia in Taiwan is approximately 1-3%. Previously methods to reveal and diagnose severe deleted form of ?- or ?-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 ?-thalassemia. RESULTS:Our results show that ??Ct between deleted form of ?-thalassemia and normal individuals were 1.0674 ± 0.0713. On the contrary, mutation form ?-thalassemia showed no difference with normal healthy control. The HBB/CCR5 ratio for deleted form of ?-thalassemia patients was 0.48, whether normal individuals and mutation form of ?-thalassemia was 1.0. CONCLUSION:This RQ-PCR technique is an alternative rapid screening assay for deleted form of ?-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 ?-thalassemia.

SUBMITTER: Ke LY 

PROVIDER: S-EPMC6817179 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature