Zahra ZAFARI, Morteza KARIMIPOOR, Sirous ZEINALI, Azam AMIRIAN, Alireza KORDAFSHARI, Zohreh SHARIFI

Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population

Abstract: Background/aim: The KCNQ1 gene has a significant role in long QT syndrome, Jervell and Lange-Nielsen syndrome, familialatrial fibrillation, and short QT syndrome. Analyzing such heterogeneous disorders, six novel short tandem repeat (STR) markersaround the KCNQ1 gene were found and evaluated in a healthy population, and other statistical traits of the markers were detected.Materials and methods: Using Tandem Repeats Finder (TRF) and Sequence-Based Estimation of Repeat Variability (SERV) software,STR markers were detected with valid tetra- and pentanucleotide repeats. The markers were investigated for a total of 60 unrelatedIranian healthy individuals and analyzed using GenAlEx 6.502 and Cervus 3.0.7.Results: A total of 77 haplotypes was detected, of which 25 haplotypes were unique and the others occurred at least two times. Thenumber of haplotypes per locus ranged from 7 to 18 with the highest frequency of 69.2%, and the observed heterozygosity was calculatedas 0.589. The power of discrimination ranged from 0.70 to 0.96. Five of the markers meet Hardy–Weinberg equilibrium.Conclusion: A novel panel of STR markers was described with high allele heterozygosity and segregation in every locus, which maylead to faster and more credible recognition of the disease-inducing KCNQ1 gene and allow it to be used for human identity testing andprenatal diagnosis.

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