Genetic diagnosis of thalassemia mutations with free fetal DNA in pregnant plasma / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 1215-1219, 2013.
Article
in Zh
| WPRIM
| ID: wpr-283950
Responsible library:
WPRO
ABSTRACT
This research was aimed to develop a simple, rapid, accurate and non-invasive method by means of flow-through hybridization technology, which can be used for molecular screening and early prenatal diagnosis for detecting common β-thalassemias mutational genotypes. By using PCR technology combined with flow-through hybridization of low-density gene chip technology, the 6 sets of PCR primer single tube multiplex PCR system and 29 types of DNA probes were designed, then the mutational thalassemias in foetus DNA was rapidly detected in total of 60 anaemia pregnant women plasma. The results showed that 4 cases with deletional α-thalassemias, 3 cases with β-thalassemias, 1 case with mixed type of α & β-thalassemias were detected in foetus DNA of 60 pregnant women plasmas. It is concluded that the method presented in this study is easy to handle, rapid, reliable and cost-effective for detecting 3 common deletional α-thalassemias and 17 common mutational β-thalassemia.
Full text:
1
Index:
WPRIM
Main subject:
Plasma
/
Pregnancy Trimester, Second
/
Pregnancy Trimester, First
/
Prenatal Diagnosis
/
Thalassemia
/
Blood
/
DNA
/
DNA Probes
/
Polymerase Chain Reaction
/
Beta-Thalassemia
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Journal of Experimental Hematology
Year:
2013
Type:
Article