Article
Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia.
Translational research : the journal of laboratory and clinical medicine - 1 Mar 2011
Saadi Abdul V, Girisha Katta M, Gopinath Puthiya M, Satyamoorthy Kapaettu
Abstract excerpt
Prenatal diagnosis of 3 HBB gene mutations causing β-thalassemia and hemoglobin D Punjab segregated in a South Indian nuclear family is reported along with a method identified as control for maternal cell contamination (MCC). Amplicons of the HBB gene from genomic DNA obtained from the blood of a thalassemic first child (proband), both parents, and a chorionic villus sample of their second pregnancy were directly...
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