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[葡萄胎中的线粒体遗传]

[Mitochondrial heredity in hydatidiform moles].

作者信息

Márquez Monter H, Castelán Montalban F

机构信息

Departamento de Medicina Experimental, Facultad de Medicina, UNAM México, D.F.

出版信息

Ginecol Obstet Mex. 1994 Sep;62:262-5.

PMID:7959151
Abstract

A mitochondrial DNA study of seven hydatidiform moles and seven full term placentas as controls was carried out to determine the role played by mitochondrial DNA as the only maternal genome participating in the pathogenesis of these trophoblastic growths. Mitochondrial DNA was digested by restriction enzymes Eco R1 and Hind III, processed by electrophoresis and stained by ethidium bromide. Molar mitochondrial DNA showed two restriction bands at 9416 and 2322 kbs with Eco R1 and one band at 2322 kbs with Hind III, whereas the controls showed three bands of 9416, 4361 and 2322 kbs with Eco 1, and two bands at 4361 and 2322 kbs with Hind III. The results were interpreted as a DNA alteration consistent with a mutation at level of tARN genes, initiating the reading of gen ND2 of Complex I, NADH dehydrogenase and affecting Complex CO III that transcribe cytochrome c and oxidoreductase genes. The alterations are considered as mutations probably resulted from folic acid deficiency at threshold levels during nuclear and mitochondrial DNA synthesis in oogenesis and meiosis that renders anucleated ova (cytoplasts), fertilized, and further accelerated development of a zygote bearing an entire androgenic genome.

摘要

对7例葡萄胎和7例足月胎盘作为对照进行线粒体DNA研究,以确定线粒体DNA作为唯一参与这些滋养层生长发病机制的母体基因组所起的作用。线粒体DNA用限制性内切酶Eco R1和Hind III消化,经电泳处理并用溴化乙锭染色。葡萄胎线粒体DNA用Eco R1消化后显示9416和2322千碱基对的两条限制性条带,用Hind III消化后显示2322千碱基对的一条条带,而对照用Eco 1消化后显示9416、4361和2322千碱基对的三条条带,用Hind III消化后显示4361和2322千碱基对的两条条带。结果被解释为与tARN基因水平的突变一致的DNA改变,起始复合体I、NADH脱氢酶的ND2基因的读取,并影响转录细胞色素c和氧化还原酶基因的复合体CO III。这些改变被认为是突变,可能是由于卵子发生和减数分裂过程中核DNA和线粒体DNA合成时叶酸缺乏达到阈值水平所致,导致无核卵子(细胞质体)受精,并进一步加速携带完整雄性基因组的受精卵的发育。

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