Development and diversity of a novel panel of short tandem repeat markers encompassing the SCN5A gene in Iranian population

Zafari, Zahra; Amirian, Azam; Nejad, Faezeh Rahimi; Akbari, Vahid; Akbari, Mohammad Taghi; Zeinali, S

doi:10.1007/s12041-018-0902-3

Cited by 1 publication

(2 citation statements)

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“…For the D11SU10.9, D11SU2.2, D11SU0.6, D11SI, D11SD8.3, and D11SD13.6 STR markers, fragment assay showed 11, 18, 7, 12, 16 and 13 alleles, respectively. The D11SU2.2 locus with a (20). Our study's conclusion revealed the novel STRs that show a high rate of informativity and high degree of variability that make STR markers very efficient for haplotype analysis and human identity testing.…”

Section: Discussionmentioning

confidence: 69%

“…This revealed that none of the loci except for D11SD8.3 had significant deviations from HWE. This may be due to either probable genotyping and laboratory slips or population stratum (20). Our study's conclusion revealed the novel STRs that show a high rate of informativity and high degree of variability that make STR markers very efficient for haplotype analysis and human identity testing.…”

Section: Discussionmentioning

confidence: 77%

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

Amirian¹,

Zafari²,

Sharifi³

et al. 2019

Turk J Med Sci

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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.

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Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 77%