Liang-Yin Ke1,2, Jan-Gowth Chang1,3, Chao-Sung Chang3,4, Li-Ling Hsieh1, Ta-Chih Liu1,3,4. 1. Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. 2. Department of Medical Laboratory Science and Biotechnology, KMU, Kaohsiung, Taiwan. 3. Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. 4. Division of Hematology-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Abstract
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 ΔΔCt 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.
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 ΔΔCt 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.
Authors: J W Zhang; W F Song; Y J Zhao; G Y Wu; Z M Qiu; F N Wang; S S Chen; G Stamatoyannopoulos Journal: Blood Date: 1993-03-15 Impact factor: 22.113