Detection of deletional alpha-thalassemia from free fetal DNA in maternal plasma / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 679-682, 2010.
Article
in Zh
| WPRIM
| ID: wpr-243287
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Prenatal Diagnosis
/
DNA
/
Polymerase Chain Reaction
/
Sequence Deletion
/
Alpha-Thalassemia
/
DNA Primers
/
Diagnosis
/
Fetus
/
Genetics
/
Methods
Type of study:
Diagnostic_studies
/
Guideline
Limits:
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Journal of Experimental Hematology
Year:
2010
Type:
Article