Torpong Sanguansermsri

TL;DR: A digital relative mutation dosage (RMD) approach that determines if the dosages of the mutant and wild-type alleles of a disease-causing gene are balanced or unbalanced in maternal plasma is described and a digital nucleic acid size selection strategy is developed that effectively enriches the fetal DNA without additional plasma sampling or experimental time.

TL;DR: A method based on single-allele base extension reaction and MS, which allows for the reliable detection of fetal-specific alleles, including point mutations and single-nucleotide polymorphisms, in maternal plasma, was developed and noninvasive prenatal diagnosis in a mother and father carrying identical beta-thalassemia mutations was accomplished.

TL;DR: A rapid technique based on real‐time gap‐PCR and high resolution melting (HRM) analysis of the amplified fragment using the Rotor‐Gene 6000™ is implemented and can be easily distinguished from wild type α‐globin gene allele.

TL;DR: A sample of 215 healthy subjects from four rural districts of Chiang Mai province exhibited anomalies of the α-globin genes, meaning no fewer than 2% of the children in northern Thailand are expected to be born with HbH disease or thalassemic hydrops fetalis.

TL;DR: The strategy identified nearly all, if not all, fetuses with severe thalassaemia without false positives among the screened couples, and proves to be highly effective in the control of severeThalassAemia.