No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

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منابع مشابه

the point mutations of mitochondrial trna threonine and proline in idiopathic repeated pregnancy loss

background: mitochondrial transfer rnas (trna) genes are essential components of protein biosynthesis. these genes are hotspots for mutations. these mutations are associated with a wide spectrum of human disease. many genetic factors are known in assessment of repeated pregnancy loss (rpl). objective: the aim of this study was analysis of trna thr and trna pro in women with rpl. materials and m...

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The point mutations of mitochondrial tRNA threonine and proline in idiopathic repeated pregnancy loss

Background: Mitochondrial transfer RNAs (tRNA) genes are essential components of protein biosynthesis. These genes are hotspots for mutations. These mutations are associated with a wide spectrum of human disease. Many genetic factors are known in assessment of repeated pregnancy loss (RPL). Objective: The aim of this study was analysis of tRNA Thr and tRNA Pro in women with RPL. Materials and M...

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Directly repeated sequences associated with pathogenic mitochondrial DNA deletions.

We determined the nucleotide sequences of junctional regions associated with large deletions of mitochondrial DNA found in four unrelated individuals with a phenotype of chronic progressive external ophthalmoplegia. In each patient, the deletion breakpoint occurred within a directly repeated sequence of 13-18 base pairs, present in different regions of the normal mitochondrial genome-separated ...

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Mitochondrial DNA Mutations, Pathogenicity and Inheritance

Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...

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Evolution of repeated sequence arrays in the D-loop region of bat mitochondrial DNA.

Analysis of mitochondrial DNA control region sequences from 41 species of bats representing 11 families revealed that repeated sequence arrays near the tRNA-Pro gene are present in all vespertilionine bats. Across 18 species tandem repeats varied in size from 78 to 85 bp and contained two to nine repeats. Heteroplasmy ranged from 15% to 63%. Fewer repeats among heteroplasmic than homoplasmic in...

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ژورنال

عنوان ژورنال: Journal of Assisted Reproduction and Genetics

سال: 2010

ISSN: 1058-0468,1573-7330

DOI: 10.1007/s10815-010-9435-2