用于筛查土耳其人群中常见 HbS 和 β-地中海贫血突变的新型实时 PCR 试剂盒的研发。

Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey.

机构信息

Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.

Department of Medical Genetics, Dr. Ersin Arslan Research and Training Hospital, Gaziantep, Turkey.

出版信息

Turk J Med Sci. 2017 Jun 12;47(3):973-978. doi: 10.3906/sag-1606-49.

DOI:10.3906/sag-1606-49

PMID:28618753

Abstract

BACKGROUND/AIM: IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these mutations using the TaqMan probe method.

MATERIALS AND METHODS

This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, and 21 controls with known mutations.

RESULTS

We designed a kit containing the IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS mutations by using the real-time PCR method. One hundred patients were studied with our developed TaqMan real-time PCR kit. Of these patients, 73 (73%) were identified with the beta gene mutation. Among those 73 patients, 16 were homozygous, 54 were heterozygous, and 3 were compound heterozygous.

CONCLUSION

This reliable kit provided rapid diagnosis including 76% of the β-thalassemia mutations in Turkey.

摘要

背景/目的：IVSI-110（G>A）、IVSI-6（T>C）、IVSII-1（G>A）、IVSII-745（C>G）、IVSI-1（G>A）和 HbS 突变覆盖了土耳其人群中所有β-珠蛋白突变的 76%。本研究旨在使用 TaqMan 探针法为这些突变开发一种可靠、快速的实时试剂盒。

材料和方法

本研究包括 100 名患有β-地中海贫血或镰状细胞贫血且未知突变的个体，以及 21 名具有已知突变的对照者。

结果

我们通过实时 PCR 方法设计了一个包含 IVSI-110（G>A）、IVSI-6（T>C）、IVSII-1（G>A）、IVSII-745（C>G）、IVSI-1（G>A）和 HbS 突变的试剂盒。我们用开发的 TaqMan 实时 PCR 试剂盒对 100 名患者进行了研究。在这些患者中，73 名（73%）被鉴定为存在β 基因突变。在这 73 名患者中，16 名是纯合子，54 名是杂合子，3 名是复合杂合子。