European journal of obstetrics, gynecology, and reproductive biology · 2019
Investigation of human paternal mitochondrial DNA transmission in ART babies whose fathers with male infertility.
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Eker Candan, Celik Hale Goksever, Balci Burcin Karamustafaoglu, Gunel Tuba
Аннотация
OBJECTIVE: To investigate the paternal mitochondrial DNA's effect on assisted reproductive technology (ART) applications and possible paternal mitochondrial DNA transmission in male factor infertility diagnosed fathers.
STUDY DESIGN: Study group was designed according to the families all of which applied to assisted reproductive technologies as a result of male infertility. A total of 16 trios (48 mother-father-child samples) which contain 7 newborns and 9 infants born by in vitro fertilization method (IVF-ICSI) were studied using "Illumina, MiSeq" next-generation sequencing platform (Case-parent trio study). The study has been conducted between February 2017 and May 2018.
RESULT(S): Sequencing analysis results were investigated on the basis of "mother-father-child", "mother-child" and "father-child" mitochondrial DNA whole genome sequence data, respectively. In 14 "trios" of 16; maternal mitochondrial DNA haplotype were detected for children, the remaining 2 "trios" had different mitochondrial DNA haplotypes when compared to their mother and fathers. Also; "father-child" sharing same genetic variants (SNP ("Single nucleotide polymorphism") / MNP ("Multiple nucleotide polymorphism") / INDEL ("Insertion/Deletion") were found in 8 "trios". In 5 "trios" of 16; 98-99% paternal mitochondrial DNA genome sequence similarity were obtained by alignment of "father-child" mitochondrial DNA genome.
CONCLUSION(S): This study is the first whole mitochondrial genome investigation for paternal mitochondrial DNA contribution in human IVF / ICSI applied trio cases. Our findings for paternally derived variants could be the result of intermolecular recombination between maternal and paternal mitochondrial DNA.
STUDY DESIGN: Study group was designed according to the families all of which applied to assisted reproductive technologies as a result of male infertility. A total of 16 trios (48 mother-father-child samples) which contain 7 newborns and 9 infants born by in vitro fertilization method (IVF-ICSI) were studied using "Illumina, MiSeq" next-generation sequencing platform (Case-parent trio study). The study has been conducted between February 2017 and May 2018.
RESULT(S): Sequencing analysis results were investigated on the basis of "mother-father-child", "mother-child" and "father-child" mitochondrial DNA whole genome sequence data, respectively. In 14 "trios" of 16; maternal mitochondrial DNA haplotype were detected for children, the remaining 2 "trios" had different mitochondrial DNA haplotypes when compared to their mother and fathers. Also; "father-child" sharing same genetic variants (SNP ("Single nucleotide polymorphism") / MNP ("Multiple nucleotide polymorphism") / INDEL ("Insertion/Deletion") were found in 8 "trios". In 5 "trios" of 16; 98-99% paternal mitochondrial DNA genome sequence similarity were obtained by alignment of "father-child" mitochondrial DNA genome.
CONCLUSION(S): This study is the first whole mitochondrial genome investigation for paternal mitochondrial DNA contribution in human IVF / ICSI applied trio cases. Our findings for paternally derived variants could be the result of intermolecular recombination between maternal and paternal mitochondrial DNA.