A novel panel of 16 STR markers for detection of β-thalassemia and aneuploidy screening

Background: β-thalassemia is the most common hematological disorder worldwide. The carrier frequency of Β-thalassemia is high in Iran, therefore prenatal diagnosis (PND) or Pre-implantation Genetic Diagnosis (PGD) could be attractive options to prevent the birth of new beta-thalassemia cases. Aneuploidies are the cause of over 50% of all miscarriages. Early aneuploidy screening in conjunction with PND or PGD for thalassemia can decrease the subsequent complication of pregnancy termination.Methods: This Study aimed to develop a novel panel for detection of β-thalassemia and aneuploidy screening simultaneously. The panel is based on the study of homozygosity mapping of 10 (6 novels) STR (Short Tandem Repeat) markers linked to HBB gene. Additionally, quantitative analysis of the critical regions of 21, 18, 13, X and Y-chromosomes was performed using markers of KBC-Aneuquick kit. These markers were amplified in a multiplex PCR reaction which is time-saving and cost-effective technique.Result: Allele frequency & heterozygosity assessment of HBB STR markers were studied in 100 unrelated healthy individuals. Totally, 97 alleles were detected. Genotype frequencies of the markers were found to be in agreement with the Hardy–Weinberg equilibrium (P ≥ 0.1876). Six markers with higher heterozygosity (66.7%-85.2%) were selected. For further confirmation of the homozygosity mapping data, direct mutation analysis was also performed. The results were compatible.Conclusion: The panel was used for 14 PGD candidates and the results were successful. We found that these markers can be easily applied for PGD, PND of thalassemia and aneuploidy screening or even sex determination. This panel increases the specificity and sensitivity of the diagnosis.

کلیدواژه ها:

Aneuploidy screening ، Pre-implantation Genetic Diagnosis (PGD) ، Short Tandem Repeat(STR) ، Prenatal diagnosis (PND)