Premium
Arrayed Primer Extension for the Noninvasive Prenatal Diagnosis of β‐Thalassemia Based on Detection of Single Nucleotide Polymorphisms
Author(s) -
Papasavva Thessalia,
Kalikas Ioannis,
Kyrri Andreanni,
Kleanthous Marina
Publication year - 2008
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1448.029
Subject(s) - primer extension , thalassemia , primer (cosmetics) , single nucleotide polymorphism , prenatal diagnosis , genetics , medicine , extension (predicate logic) , nucleotide , biology , computational biology , computer science , genotype , pregnancy , chemistry , fetus , gene , organic chemistry , programming language
β‐Thalassemia is one of the most common autosomal recessive single‐gene disorders in Cyprus. Development of a noninvasive prenatal diagnostic (NIPD) assay for β‐thalassemia is based mostly on the detection of paternally inherited single nucleotide polymorphisms (SNPs) using the a rrayed p rimer ex tension (APEX) method. Eleven SNPs with high degree of heterozygosity in the Cypriot population were selected and analyzed on 34 families and the informative SNPs were determined. The APEX assay was used on maternal plasma of seven families using the informative SNPs; paternal allele of the fetus was noninvasively detected in five families.