Identification of novel microsatellite markers <1 Mb from the HBB gene and development of a single-tube pentadecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of beta-thalassemia

Electrophoresis
Min ChenSamuel S Chong

Abstract

Beta (β)-thalassemia is one of the most common monogenic diseases worldwide. Affected pregnancies can be avoided through preimplantation genetic diagnosis (PGD), which commonly involves customized assays to detect the different combinations of β-globin (HBB) gene mutations present in couples, in conjunction with linkage analysis of flanking microsatellite markers. Currently, the limited number of reported closely linked markers hampers their utility in indirect linkage-based PGD for this disorder. To increase the available markers closely flanking the HBB gene, an in silico search was performed to identify all markers within 1 Mb flanking the HBB gene. Fifteen markers with potentially high polymorphism information content (PIC) and heterozygosity values were selected and optimized into a single-tube pentadecaplex PCR panel. Allele frequencies and polymorphism and heterozygosity indices of each marker were assessed in five populations. A total of 238 alleles were observed from the 15 markers. PIC was >0.7 for all markers, with expected heterozygosity and observed heterozygosity values ranging from 0.74 to 0.90 and 0.72 to 0.88, respectively. Greater than 99% of individuals were heterozygous for at least seven markers, with at le...Continue Reading

References

Feb 1, 1990·Theoretical Population Biology·B S WeirK G Dodds
Aug 27, 1998·American Journal of Human Genetics·K W BromanJ L Weber
Sep 29, 2001·Molecular and Cellular Endocrinology·S RechitskyY Verlinsky
Aug 31, 2004·Reproductive Biomedicine Online·Svetlana RechitskyYury Verlinsky
May 12, 2005·European Journal of Human Genetics : EJHG·Francesco FiorentinoMarina Baldi
Sep 24, 2005·Reproductive Biomedicine Online·A KulievY Verlinsky
Feb 4, 2006·Reproductive Biomedicine Online·Svetlana RechitskyYury Verlinsky
Nov 9, 2007·Genome Research·Tara C MatiseSteven Buyske
Apr 6, 2011·Expert Review of Molecular Diagnostics·Joanne Traeger-SynodinosEmmanuel Kanavakis
Jun 15, 2011·Journal of Assisted Reproduction and Genetics·Xiaoting ShenTao Li
Jul 26, 2011·Reproductive Biomedicine Online·Semra KahramanCumhur Gokhan Ekmekci
Sep 13, 2011·Lancet·Douglas R HiggsGeorge Stamatoyannopoulos
Sep 14, 2011·Hemoglobin·Anver KulievSvetlana Rechitsky
Sep 7, 2012·Cold Spring Harbor Perspectives in Medicine·Thomas N Williams, David J Weatherall
May 15, 2013·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Tanya MilachichSemra Kahraman
Oct 19, 2013·Nucleic Acids Research·Belinda GiardineGeorge P Patrinos

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.