Istanbul University, Faculty of Science, Department of Molecular Biology and Genetics, 34134 Vezneciler, Istanbul, Turkey.
Istanbul University, Faculty of Science, Department of Molecular Biology and Genetics, 34134 Vezneciler, Istanbul, Turkey; Saglik Bilimleri University, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Department of Obstetrics and Gynecology, 34303 Istanbul, Turkey.
Eur J Obstet Gynecol Reprod Biol. 2019 May;236:183-192. doi: 10.1016/j.ejogrb.2019.02.011. Epub 2019 Feb 20.
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 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.
研究父系线粒体 DNA 对辅助生殖技术（ART）应用的影响以及男性因素不孕诊断父亲中可能存在的父系线粒体 DNA 传递。
根据所有因男性不育而申请辅助生殖技术的家庭设计研究组。共研究了 16 个三联体（48 个母亲-父亲-子女样本），其中包括 7 名新生儿和 9 名通过体外受精方法（IVF-ICSI）出生的婴儿，使用“Illumina，MiSeq”下一代测序平台（病例-父母三联体研究）。这项研究是在 2017 年 2 月至 2018 年 5 月期间进行的。
根据“母亲-父亲-子女”、“母亲-子女”和“父亲-子女”线粒体 DNA 全基因组序列数据分别对测序分析结果进行了调查。在 16 个三联体中的 14 个中，检测到了儿童的母亲线粒体 DNA 单倍型，其余 2 个三联体与母亲和父亲的线粒体 DNA 具有不同的单倍型。此外，在 8 个三联体中发现了“父亲-子女”共享相同的遗传变异（SNP（“单核苷酸多态性”）/ MNP（“多核苷酸多态性”）/ INDEL（“插入/缺失”）。在 16 个三联体中的 5 个中，通过“父亲-子女”线粒体 DNA 基因组的比对，获得了 98-99%的父系线粒体 DNA 基因组序列相似性。
这是首例对人类 IVF/ICSI 应用三联体病例中父系线粒体 DNA 贡献的全线粒体基因组研究。我们发现的父系衍生变体可能是母系和父系线粒体 DNA 之间的分子间重组的结果。
