Diagnosis of α-thalassemia-1 southeast Asian type deletion and fetal gender by single-tube multiplex real-time PCR

Background: The combination of an x-linked hematologic disorder with a heterozygous α-thalassemia-1 Southeast Asian (SEA) type deletion might lead to severe anemia in male infants. This study is to develop a simple and cost-effective single tube multiplex real-time PCR for the diagnosis of α-thalass...

Full description

Saved in:
Bibliographic Details
Main Authors: Sarinee Srithep, Kanyakan Kongthai, Sakorn Pornprasert
Format: Journal
Published: 2018
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84874615548&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/48063
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Chiang Mai University
id th-cmuir.6653943832-48063
record_format dspace
spelling th-cmuir.6653943832-480632018-04-25T08:47:15Z Diagnosis of α-thalassemia-1 southeast Asian type deletion and fetal gender by single-tube multiplex real-time PCR Sarinee Srithep Kanyakan Kongthai Sakorn Pornprasert Background: The combination of an x-linked hematologic disorder with a heterozygous α-thalassemia-1 Southeast Asian (SEA) type deletion might lead to severe anemia in male infants. This study is to develop a simple and cost-effective single tube multiplex real-time PCR for the diagnosis of α-thalassemia-1 SEA type deletion and detect fetal gender. Methods: Multiplex real-time polymerase chain reaction (PCR) for the detection of α-thalassemia-1 SEA type deletion gene, wild type α-globin gene, and sex-determining region Y (SRY) gene was validated by analysis of 95 cord blood samples (60 normal individuals, 28 heterozygous of α-thalassemia-1 SEA type deletion and 7 Bart's hydrops fetalis). The change in threshold cycle (ΔC T ) was analyzed by subtracting the C T-mutant from C T-wild type . Results: Mean ΔC T values were significantly different among these three groups, and a SRY gene determination was 100% in concordance with fetal genders. Furthermore, analysis of fetal gender did not affect the ΔC T of α-thalassemia-1 SEA detection. Conclusions: Combined α-thalassemia-1 SEA type detection and fetal gender determination in a single-tube multiplex real-time PCR is an alternative assay for a conventional method for the diagnosis of α-thalassemia-1 SEA deletion and fetal gender. 2018-04-25T08:47:15Z 2018-04-25T08:47:15Z 2013-03-11 Journal 14336510 2-s2.0-84874615548 10.7754/Clin.Lab.2012.120217 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84874615548&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/48063
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
description Background: The combination of an x-linked hematologic disorder with a heterozygous α-thalassemia-1 Southeast Asian (SEA) type deletion might lead to severe anemia in male infants. This study is to develop a simple and cost-effective single tube multiplex real-time PCR for the diagnosis of α-thalassemia-1 SEA type deletion and detect fetal gender. Methods: Multiplex real-time polymerase chain reaction (PCR) for the detection of α-thalassemia-1 SEA type deletion gene, wild type α-globin gene, and sex-determining region Y (SRY) gene was validated by analysis of 95 cord blood samples (60 normal individuals, 28 heterozygous of α-thalassemia-1 SEA type deletion and 7 Bart's hydrops fetalis). The change in threshold cycle (ΔC T ) was analyzed by subtracting the C T-mutant from C T-wild type . Results: Mean ΔC T values were significantly different among these three groups, and a SRY gene determination was 100% in concordance with fetal genders. Furthermore, analysis of fetal gender did not affect the ΔC T of α-thalassemia-1 SEA detection. Conclusions: Combined α-thalassemia-1 SEA type detection and fetal gender determination in a single-tube multiplex real-time PCR is an alternative assay for a conventional method for the diagnosis of α-thalassemia-1 SEA deletion and fetal gender.
format Journal
author Sarinee Srithep
Kanyakan Kongthai
Sakorn Pornprasert
spellingShingle Sarinee Srithep
Kanyakan Kongthai
Sakorn Pornprasert
Diagnosis of α-thalassemia-1 southeast Asian type deletion and fetal gender by single-tube multiplex real-time PCR
author_facet Sarinee Srithep
Kanyakan Kongthai
Sakorn Pornprasert
author_sort Sarinee Srithep
title Diagnosis of α-thalassemia-1 southeast Asian type deletion and fetal gender by single-tube multiplex real-time PCR
title_short Diagnosis of α-thalassemia-1 southeast Asian type deletion and fetal gender by single-tube multiplex real-time PCR
title_full Diagnosis of α-thalassemia-1 southeast Asian type deletion and fetal gender by single-tube multiplex real-time PCR
title_fullStr Diagnosis of α-thalassemia-1 southeast Asian type deletion and fetal gender by single-tube multiplex real-time PCR
title_full_unstemmed Diagnosis of α-thalassemia-1 southeast Asian type deletion and fetal gender by single-tube multiplex real-time PCR
title_sort diagnosis of α-thalassemia-1 southeast asian type deletion and fetal gender by single-tube multiplex real-time pcr
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84874615548&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/48063
_version_ 1681423179903401984