Study on the Variants, of Mitochondrial HVal and HVa2 Regions in Iraqi Kearns-Sayre Syndrome: A Case Study
Abstract
Kearns-Sayre syndrome (KSS) is a rare syndrome characterized by mitochondrial myopathy. The present study was carried out to report an unusual manifestation of 18 years old Iraqi female patient suffering from KSS symptoms; blood samples were collected to estimate sequences of mitochondrial DNA for patients. The deoxyribonucleic acid (DNA) was extracted using kits then PCR-sequencing using to amplification HV 1a and HV2a loci in mitochondrial DNA. The result shows that case sequences' identities with virtual amplification were 8.48% and 41.8%, while 95.53% and 80.06% were healthy Iraqi individuals for the HV1a and HV2a, respectively. The multiple comparisons show that there were more variants in HV2a than HVla site, it was variant in 105 sits while in HV1a were 11 variants, we concluded that some variants which represented by a percentage of differed with healthy Iraqi individuals mtDNA 4.47% and 19.94% for the tow loci in the present study might be contributed in the phenotype of KSS case, but we need to investigate more site of mtDNA and genomic DNA.Keywords:
Kearns-Sayre syndrome, Mitochondrial DNA, Syndrome detectionReferences
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