Clinical laboratory · 2013
Diagnosis of alpha-thalassemia-1 Southeast Asian type deletion and fetal gender by single-tube multiplex real-time PCR.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Srithep Sarinee, Kongthai Kanyakan, Pornprasert Sakorn
Аннотация
BACKGROUND: The combination of an x-linked hematologic disorder with a heterozygous alpha-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 alpha-thalassemia-1 SEA type deletion and detect fetal gender.
METHODS: Multiplex real-time polymerase chain reaction (PCR) for the detection of alpha-thalassemia-1 SEA type deletion gene, wild type alpha-globin gene, and sex-determining region Y (SRY) gene was validated by analysis of 95 cord blood samples (60 normal individuals, 28 heterozygous of alpha-thalassemia-1 SEA type deletion and 7 Bart's hydrops fetalis). The change in threshold cycle (deltaC(T)) was analyzed by subtracting the C(T-mutant) from C(T-wild) type.
RESULTS: Mean deltaC(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 deltaC(T) of alpha-thalassemia-1 SEA detection.
CONCLUSIONS: Combined alpha-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 alpha-thalassemia-1 SEA deletion and fetal gender.
METHODS: Multiplex real-time polymerase chain reaction (PCR) for the detection of alpha-thalassemia-1 SEA type deletion gene, wild type alpha-globin gene, and sex-determining region Y (SRY) gene was validated by analysis of 95 cord blood samples (60 normal individuals, 28 heterozygous of alpha-thalassemia-1 SEA type deletion and 7 Bart's hydrops fetalis). The change in threshold cycle (deltaC(T)) was analyzed by subtracting the C(T-mutant) from C(T-wild) type.
RESULTS: Mean deltaC(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 deltaC(T) of alpha-thalassemia-1 SEA detection.
CONCLUSIONS: Combined alpha-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 alpha-thalassemia-1 SEA deletion and fetal gender.