Abstract
The KCNQ1 gene has a significant role in long QT syndrome, Jervell and Lange-Nielsen syndrome, familial atrial fibrillation, and short QT syndrome. Analyzing such heterogeneous disorders, six novel short tandem repeat (STR) markers around 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 unrelated Iranian 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. The number of haplotypes per locus ranged from 7 to 18 with the highest frequency of 69.2%, and the observed heterozygosity was calculated as 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 may lead to faster and more credible recognition of the disease-inducing KCNQ1 gene and allow it to be used for human identity testing and prenatal diagnosis.
Highlights
A novel panel of short tandem repeat (STR) markers was described with high allele heterozygosity and segregation in every locus, which may lead to faster and more credible recognition of the disease-inducing KCNQ1 gene and allow it to be used for human identity testing and prenatal diagnosis
The KCNQ1 gene is related to a huge family of genes that encode heart potassium channel protein, the most diverse group of ion channels, that is responsible for the repolarization phase of the cardiac action potential in the voltage dependence of activation [1]
In addition to LQTS, mutations in this gene are associated with other forms of inherited arrhythmias such as Jervell and Lange-Nielsen syndrome (JLNS), familial atrial fibrillation (AF), and short QT syndrome (SQTS) [5]
Summary
The KCNQ1 gene is related to a huge family of genes that encode heart potassium channel protein, the most diverse group of ion channels, that is responsible for the repolarization phase of the cardiac action potential in the voltage dependence of activation [1]. The gene product is assumed to be capable of forming a heteromultimer with the other potassium channel protein, mink (encoded by KCNE1). Loss of function mutations in the KCNQ1 gene, which induce type 1 long QT syndrome (LQTS1, MIM#192500) [2], the most common type of LQTS, cause delayed rectifier potassium current (IKs) in the cardiomyocytes [3] and inner ear [4]. In addition to LQTS, mutations in this gene are associated with other forms of inherited arrhythmias such as Jervell and Lange-Nielsen syndrome (JLNS), familial atrial fibrillation (AF), and short QT syndrome (SQTS) [5]. STRs could be used for forensic applications, phylogenetic reconstruction, preimplantation genetic diagnosis, and prenatal genetic diagnosis [6,12]
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