Pan Zijun, Usui Hirokazu, Sato Asuka, Shozu Makio
a Department of Reproductive Medicine , Graduate School of Medicine, Chiba University , Chiba , Japan.
Mitochondrial DNA A DNA Mapp Seq Anal. 2018 Aug;29(6):943-950. doi: 10.1080/24701394.2017.1389916. Epub 2017 Oct 17.
Mitochondrial DNA (mtDNA) and genomic DNA are produced in separate subcellular compartments. Human mtDNA is transmitted via maternal transmission in general. Complete hydatidiform moles (CHMs) represent major trophoblastic diseases that are cytogenetically exceptional because the chromosomal genomic DNA is derived only from sperm cells, making them strikingly different from normal concepti. However, few reports have described the mtDNA-transmission pattern in hydatidiform moles. To evaluate mtDNA transmission in androgenetic CHMs, we compared the sequences of hypervariable regions in 16 trios sets of mtDNAs from maternal, paternal, and villous samples of androgenetic CHMs diagnosed by short tandem repeat-polymorphism analysis. All mtDNAs in androgenetic CHMs were maternally derived, in line with the general human inheritance pattern. Three maternal mtDNAs were heteroplasmic. The heterozygous status of maternal mtDNA was reflected in villous tissue, in which variants status was also heterozygous. CHMs are composed of paternal chromosomes and maternal mitochondria.
线粒体DNA（mtDNA）和基因组DNA在不同的亚细胞区室中产生。人类mtDNA一般通过母系遗传传递。完全性葡萄胎（CHM）是主要的滋养层疾病，其细胞遗传学情况特殊，因为染色体基因组DNA仅来自精子细胞，这使得它们与正常妊娠显著不同。然而，很少有报告描述葡萄胎中的mtDNA传递模式。为了评估孤雄生殖CHM中的mtDNA传递情况，我们比较了通过短串联重复序列多态性分析诊断的16组孤雄生殖CHM的母本、父本和绒毛样本中16组mtDNA高变区的序列。孤雄生殖CHM中的所有mtDNA均来自母系，符合人类一般遗传模式。三个母本mtDNA是异质性的。母本mtDNA的杂合状态在绒毛组织中得到体现，其中变异状态也是杂合的。CHM由父本染色体和母本线粒体组成。
