当前位置： SCI文献检索 > EUROPEAN JOURNAL OF HAEMATOLOGY期刊下所有文献 > SYTO9 and SYBR GREEN1 with a high-resolution melting analysis for prenatal diagnosis of β⁰-thalassemia/hemoglobin-E.

SYTO9 and SYBR GREEN1 with a high-resolution melting analysis for prenatal diagnosis of β⁰-thalassemia/hemoglobin-E.

Abstract：

:The β⁰-thalassemia/Hb-E causes a wide range of severe conditions. A high medical cost is incurred in severe cases. Thus, the prevention of new cases of β⁰-thalassemia/Hb-E is required. The aim of this study is to use the SYTO9 and SYBR GREEN1 high-resolution melting (HRM) analysis for prenatal diagnosis of β⁰-thalassemia/Hb-E. DNA samples were extracted from amniotic fluid or cord blood of 11 pregnancies whose fetuses were at risk for β-thalassemia/Hb-E. PCR products from multiplex amplification refractory mutation system PCR for the detection of β⁰-thalassemia mutations at codons 17(A>T), 41/42(-TCTT), and 71/72(+A) and from amplification refractory mutation system PCR for the detection of Hb-E were characterized by SYTO9 HRM analysis. Moreover, β⁰-thalassemia 3.5- kb deletion was detected using real-time PCR with SYBR GREEN1 HRM analysis. Seven of 11 fetuses (64%) were diagnosed as β⁰-thalassemia/Hb-E (4 fetuses with mutation at codon 17, 2 with mutation at codon 41/42, and 1 with 3.5- kb deletion). Results from HRM analysis were completely consistent with those from fetal blood samplings analyzed at the time of delivery or pregnancy termination using HPLC. Therefore, the HRM analysis is easy to use. It is simple, flexible, non-destructive and has superb sensitivity and specificity. This approach might facilitate the laboratory diagnosis and genetic counseling for regions with a high prevalence of β⁰-thalassemia/Hb-E.

journal_name

Eur J Haematol

journal_title

European journal of haematology

authors

Pornprasert S,Sukunthamala K

doi

10.1111/j.1600-0609.2010.01512.x

subject

Has Abstract

pub_date

2010-11-01 00:00:00

pages

424-9

issue

5

eissn

0902-4441

issn

1600-0609

pii

EJH1512

journal_volume

85

pub_type

杂志文章

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