Shahed University

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

Azam Amirian | Zahra Zafari | Zohre Sharifi | Alireza Kordafshari | Morteza Karimipoor | Sirous Zeinali

Date :  2019/04/18
Publish in :    Turkish Journal of Medical Sciences
Link :
Keywords :Allele heterozygosity, cardiac disease, haplotype, Iran, STR marker

Abstract :
Abstract: Background/aim: 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.