Allele amplification failure in the HBB gene due to allelic dropout in a pre-preimplantation genetic testing case

Joint Meeting on 6^th World Congress on Human Genetics and Genetic Diseases & 12^th World Conference on Human Genomics & Genomic Medicine

April 08-09, 2019 Abu Dhabi, UAE

Mariam Fida, Ryan Ed Arjona Bangate, Ferdinand Nkwenchi Webnda and Einas M Al-Harbi

Al Jawhara Center, Bahrain

Scientific Tracks Abstracts: J Mol Genet Med

Abstract :

Beta-Thalassemia is one of the common autosomal recessive inherited genetic conditions in the GCC region due to increased rates of consanguinity. It is a condition caused by several different types of mutations in the HBB gene. The current case represents a 30-year old gentleman who was informed to be a heterozygous carrier of β-thalassemia. At the clinic, peripheral blood was drawn for DNA sequencing. Although the patient indicated that he was a carrier, sequencing results surprisingly showed him to be affected with the codon 39 mutation which does not correspond at the genotype-phenotype level indicating the possibility of an allele dropout. Further analysis was carried out using two different sets of designed primers to confirm the carrier status. This showed that the gentleman is indeed a carrier of β-thalassemia at codon 39 of the HBB gene. In conclusion, to overcome and minimize the incidence of an allele dropout event in the pre-PGT setting and during PGT-M, it is advisable to detect every mutation using at least two different sets of primers to avoid unknown SNPs around the mutation region.

Biography :

Mariam Fida has recieved her PhD in Medical Genetics from the Univesrity of Edinburgh, Scotland. She is also specialized in Preimplantation Genetics Diagnosis at Reproductive Genetic Innovations in Chicago. She established the first PGD center in Bahrain and is currently the Director of the Center and is a Consultant in Medical Genetics.

E-mail: drmariampgd@gmail.com