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

被引：1

作者：

Ke, Liang-Yin ^{[1
,2
]}

Chang, Jan-Gowth ^{[1
,3
]}

Chang, Chao-Sung ^{[3
,4
]}

Hsieh, Li-Ling ^{[1
]}

Liu, Ta-Chih ^{[1
,3
,4
]}

机构：

[1] Kaohsiung Med Univ Hosp, Dept Lab Med, Kaohsiung, Taiwan

[2] KMU, Dept Med Lab Sci & Biotechnol, Kaohsiung, Taiwan

[3] Kaohsiung Med Univ, Coll Med, Grad Inst Med, Kaohsiung, Taiwan

[4] Kaohsiung Med Univ Hosp, Dept Internal Med, Div Hematol Oncol, Kaohsiung, Taiwan

来源：

JOURNAL OF CLINICAL LABORATORY ANALYSIS | 2017年 / 31卷 / 01期

关键词：

real-time quantitative PCR; beta-thalassemia; GLOBIN GENE-CLUSTER; MOLECULAR CHARACTERIZATION; HEREDITARY PERSISTENCE; PRENATAL-DIAGNOSIS; ALPHA-THALASSEMIA; FETAL-HEMOGLOBIN; CHINESE FAMILY; SEQUENCE; DELETIONS;

D O I：

10.1002/jcla.22019

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：

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 alpha- or beta-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 beta-thalassemia. Results: Our results show that Ct between deleted form of beta-thalassemia and normal individuals were 1.0674 +/- 0.0713. On the contrary, mutation form beta-thalassemia showed no difference with normal healthy control. The HBB/CCR5 ratio for deleted form of beta-thalassemia patients was 0.48, whether normal individuals and mutation form of beta-thalassemia was 1.0. Conclusion: This RQ-PCR technique is an alternative rapid screening assay for deleted form of beta-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 beta-thalassemia. (C) 2016 Wiley Periodicals, Inc.

引用

页数：6

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