1. Phylogenetic analysis of mitochondrial DNA in a patient with Kearns–Sayre syndrome containing a novel 7629-bp deletion
- Author
-
Gerardo Pérez-Ramírez, Luis Enrique Aguirre-Campa, Eduardo Ruiz-Pesini, María de Lourdes Muñoz, Julio Montoya, María Dolores Herrero, Jose Francisco Montiel-Sosa, and Ruben García-Ramirez
- Subjects
Mitochondrial DNA ,Sequence analysis ,Molecular Sequence Data ,Kearns-Sayre Syndrome ,Sequence alignment ,Biology ,DNA, Mitochondrial ,Haplogroup ,Kearns–Sayre syndrome ,Genetics ,medicine ,Humans ,Direct repeat ,Child ,Mexico ,Molecular Biology ,Phylogeny ,DNA Primers ,Repetitive Sequences, Nucleic Acid ,Sequence Deletion ,Likelihood Functions ,Base Sequence ,Models, Genetic ,Brain ,Sequence Analysis, DNA ,medicine.disease ,Heteroplasmy ,Hypervariable region ,Blotting, Southern ,Genes, Mitochondrial ,Indians, North American ,Female ,Tomography, X-Ray Computed ,Sequence Alignment - Abstract
Mitochondrial DNA mutations have been associated with different illnesses in humans, such as Kearns-Sayre syndrome (KSS), which is related to deletions of different sizes and positions among patients. Here, we report a Mexican patient with typical features of KSS containing a novel deletion of 7629 bp in size with 85% heteroplasmy, which has not been previously reported. Sequence analysis revealed 3-bp perfect short direct repeats flanking the deletion region, in addition to 7-bp imperfect direct repeats within 9-10 bp. Furthermore, sequencing, alignment and phylogenetic analysis of the hypervariable region revealed that the patient may belong to a founder Native American haplogroup C4c.
- Published
- 2013
- Full Text
- View/download PDF