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Journal of Assisted Reproduction and Genetics

Erschienen in:

01.11.2010 | Genetics

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

verfasst von: Seyed Mohammad Seyedhassani, Massoud Houshmand, Seyed Mehdi Kalantar, Glayol Modabber, Abbas Aflatoonian

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 11/2010

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Abstract

Purpose

Repeated pregnancy loss (RPL) occurs in 1 out of 300 couples, and the cause of about 50% of them remains idiopathic. Mitochondria have an important role in human development through ATP production and their involvement in apoptosis.

Methods

96 RPL and 96 control females were used to investigate the frequency of deletions and point mutations in the displacement loop (D-loop) on mitochondria. Multiplex PCR and DNA sequencing methods were used to detect possible variations in the mitochondrial DNA (mtDNA).

Results

No deletions but a high frequency of point mutations were found in RPL females; among 129 variations observed in RPL, 22 mutations were significant (P < 0.05) and the insertion of C in nucleotide 114 was novel.

Conclusion

High rate of mutations in D-loop of mtDNA was observed in maternal blood, a fact that may have a direct or indirect role in inducing RPL. The results can be used in the assessment of RPL and designing possible treatments for improving assisted reproduction.

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Titel: No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss
verfasst von: Seyed Mohammad Seyedhassani
Massoud Houshmand
Seyed Mehdi Kalantar
Glayol Modabber
Abbas Aflatoonian
Publikationsdatum: 01.11.2010
Verlag: Springer US
Erschienen in: Journal of Assisted Reproduction and Genetics / Ausgabe 11/2010
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-010-9435-2

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

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