Study on genetic screening and diagnosis of alpha thalassemia by real-time fluorescent quantitative PCR
10.3760/cma.j.issn.1003-9279.2014.06.032
- VernacularTitle:荧光定量PCR技术在α地中海贫血基因筛查与诊断中的研究
- Author:
Pingya HE
1
;
Zhongying DING
;
Xinli ZHANG
;
Guosong SHEN
Author Information
1. 湖州市妇幼保健院产前诊断中心
- Keywords:
Polymerase chain reaction;
Thalassaemia;
Genes;
Hemoglobins;
Electrophoresis
- From:
Chinese Journal of Experimental and Clinical Virology
2014;28(6):494-496
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the gene carried condition and hematological characteristics of α-thalassemia in pregnant women in HuZhou area,and provide scientific data for prevention of birth defects with thalassemia.Methods Real-time fluorescent quantitative PCR (Real-time PCR) was applied for genetic screening and diagnosis of alpha thalassemia on 1000 cases of pregnant women.Positive samples were verified by traditional gene diagnosis of α-thalassemia,meanwhile using hemoglobin electrophoresis technology to screen alpha thalassemia.Results 16 cases were detected α-thalassemia and the thus α-thalassemia carrier ratio was 1.6％.16 patients were diagnosed as deletion type of α-thalassemia,while mutantion type was not detected.These results were the same as checked by traditional gene diagnosis of α-thalassemia.All samples screening for hemoglobin by capillary zone electrophores,α-thalassaemia screening was positive in 5 cases.Conclusion The α-thalassemia gene carrying rate of pregnant women in Huzhou city was 1.6％.Using reasonable methods to screen pregnant women has positive significance on prevention of the occurrence of birth defects.
