DNA Sequence Analysis of High Variable Region HV2b in Kearns-Sayre Syndrome

Authors

  • Mona N. Al-Terehi College of Science, Babylon University, Hillah, Iraq
  • Mohammed A. Jawad Al-Nisour University College, Baghdad, Iraq
  • Abed J. Kadhim Al-Nisour University College, Baghdad, Iraq
  • Monem M. Alshok College of Medicine, Babylon University, Hillah, Iraq
  • Ali H. Al-Saadi College of Science, Babylon University, Hillah, Iraq

Abstract

Kearns-Sayre syndrome (KSS) is a genetic disorder disease caused by mitochondrial myopathy, and it is a rare syndrome recorded for the first time in Iraq. The present study was carried out to analyze High variable region HV 2b in KSS. A case report study was conducted, a female 19 years old with clinical manifestation of KSS was diagnosed in Margan hospital. Blood was collected from the case and her mother for DNA extraction and mt DNA amplification and sequencing. The results of the present study show that 276 bp of HV 2b, which was sequenced to detect genetic variations and point mutation, also identities with Iraqi placebos and NCBI sequences. The mtDNA sequence analysis shows a single insertion mutation in the KSS case and 11 substitution mutations. The frequency of substitution mutation was disappeared in 11 loci for 7 types of mutation. 22.23% the percentage mutation in 9 loci for 7 types of mutation, the higher percentage was 33.34% of 5 loci for 3 types of mutation. Low-frequency percentage of A, C, GC, AG, AC, TA, CG, CT and (G, C)%, other patterns percentages ware increased T, GG, TG, TT, and (A, T) %. Also, there were no ambiguous nucleotides in the present case and study subjects. The identities between study subjects were in figure 2. The percentage of DNA sequences identities between KSS with NCBI sequence was 87%, KSS with Iraqi placebo 85.77%, KSS and her mother was 79%, case mother with NCBI sequence 98%, case mother with Iraqi placebos 87.55%. the KSS case show branched haplogroups. The present study concluded that there was variation in DNA sequences in KSS case.

Keywords:

Haplogroups, Insertion mutation, Kearns-Sayre syndrome, mtDNA, NCBI sequence

References

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Published

2021-09-11
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Vol. 12 No. 3 (2021): Volume 12,Issue3

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Articles