|
Evaluation of STR Marker Polymorphism and Informativeness for QF-PCR-Based Detection of Common Fetal Aneuploidies in the Kurdish Population
|
Arash Pooladi1    , Mohammad Saeb Mazhari2 , Shamsi Zare3 , Feraydoon Abdolmaleki4 , Esmail Rahimi5 , Bijan Nouri6 , Mobin Azami7 |
1- Assistant Professor of Medical Genetics, Cancer and Immunology Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sananda , arash.pooladi1@gmail.com
2- General Practitioner, Student Research Committee, Kurdistan University of Medical Sciences, Sanandaj, Iran
3- Associate Professor, Perinatologist, Social Determinants of Health Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran
4- Assistant Professor of Medical Genetics, Neurosciences Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran
5- PhD in Genetics, Maad Genetics Polyclinic and Yekta Fanavari MaadGene Co. (Knowledge Based), Kurdistan Science and Technology Park, Sanandaj, Iran
6- Associate Professor of BioStatistics, Health Metrics and Evaluation Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran
7- . General Practitioner, Health Metrics and Evaluation Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran |
|
|
Abstract: (46 Views) |
Background and Aim: Chromosomal aneuploidies are among the most important causes of congenital anomalies, intellectual disability, and spontaneous miscarriages. Rapid detection of these abnormalities during pregnancy plays a crucial role in prenatal management. Quantitative fluorescence polymerase chain reaction (QF-PCR), based on short tandem repeat (STR) markers, is one of the established and rapid approaches for aneuploidy detection. Since the polymorphism and diversity of STR markers may vary across populations, the present study aimed to evaluate the genetic diversity and informativeness of STR markers in the Kurdish population.
Materials and Methods: In this descriptive-analytical study, 805 amniotic fluid and chorionic villus samples were obtained from high-risk pregnant women referred to a genetic center in Kurdistan Province between 2020 and 2023. QF-PCR was performed using specific autosomal and sex chromosome STR markers for chromosomes 13, 18, 21, and X. Data were analyzed using GeneMarker and R software to calculate parameters such as allele diversity, polymorphic information content (PIC), and power of discrimination (PD).
Results: Chromosomal aneuploidies were identified in 4.1% of the samples, with trisomy 21 being the most prevalent, followed by trisomy 18 and sex chromosome abnormalities. The evaluated STR loci exhibited a high level of genetic diversity. The gene diversity (GD) ranged from 0.900 to 0.974, PIC from 0.902 to 0.973, and PD from 0.960 to 0.996. STR markers on chromosome 21 demonstrated the highest discriminating power.
Conclusion: Despite not being specifically designed for our target population; but the STR markers utilized in the QF-PCR panel demonstrate optimal allelic diversity and informativeness in the Kurdish population, indicating their potential to reduce uninformative results in genetic screening. However, assessing the exact clinical diagnostic accuracy requires prospective studies using reference methods. |
|
| Keywords: Prenatal Diagnosis, Genetic Variation, Chromosome Disorders, Tandem Repeat Sequences, Fetal Aneuploidy |
|
|
|
Type of Study: Applicable |
Subject:
Molecular Medicine and Genetics
Received: 2026/05/29 | Accepted: 2026/09/5 | Published: 2026/09/5
|
|
|
|
|
|
|
| Send email to the article author |
|
|
|
| Add your comments about this article |
|
|
|
|
Research code: IR.MUK.REC.1403.102 Ethics code: IR.MUK.REC.1403.102
|
