Detection of deletional alpha-thalassemia from free fetal DNA in maternal plasma.
- Author:
Yong CHEN
1
;
Qi-Shui OU
;
Hua-Rong ZHOU
Author Information
1. Department of Medical Laboratorial Examination, The First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, Fujian Pro-vince, China.
- Publication Type:Journal Article
- MeSH:
DNA;
genetics;
DNA Primers;
Female;
Fetus;
Humans;
Polymerase Chain Reaction;
methods;
Pregnancy;
Prenatal Diagnosis;
Sequence Deletion;
alpha-Thalassemia;
diagnosis;
genetics
- From:
Journal of Experimental Hematology
2010;18(3):679-682
- CountryChina
- Language:Chinese
-
Abstract:
This study was aimed to develop a simple, rapid, accurate and wound-free single-tube multiplex polymerase chain reaction (PCR) assay, which can be used for molecular screening and prenatal diagnosis of 3 types of the commonest deletional alpha-thalassemias in Chinese population. The deletional alpha-thalassemias free fetal DNA of 50 anemic pregnant plasma were detected by means of single-tube multiplex PCR with 4 groups of primers designed by using the gap-PCR protocol. The results showed that 5 cases were found to be alpha-thalassemias in free fetal DNA of 50 anaemia pregnant plasma, out of them 3 cases were the Southeast Asia type of deletional alpha-thalassemias, 2 cases were alpha-(3.7) type of deletional alpha-thalassemias (rightward deletion). It is concluded that the single-tube multiplex PCR assay presented in this study is a simple and convenient, rapid and accurate method for detecting 3 common deletional alpha-thalassemias, and use of this method has an important significance for the deletional alpha-thalassemias to ensure the population health quality and reduce the social burden.
