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目的:研究线粒体基因组D-loop区基因的变异位点与年龄及IVF-ET或ICSI结局的相关性。方法:采用聚合酶链反应(polymerase chain reaction,PCR)和基因片段直接测序方法测定检测167例行IVF-ET或ICSI治疗患者的外周血线粒体基因组D-loop区nt.128～599区域基因变异情况,比较不同年龄组(A组:<35岁,B组:≥35岁)变异位点、年龄及IVF-ET或ICSI结局之间的关系。结果:共有20个变异位点,其中5个为新发现的变异位点。B组的变异位点数(3.8±1.8)显著多于A组的2.6±1.3,其中nt.332C→T在A组发生率显著低于B组(2.2%vs12.2%,P=0.012),且变异位点数量与年龄间存在线性相关,相关系数为0.333。nt.332C→T、nt.249delA和nt.309del/inC三者的变异组年龄显著高于非变异组,nt.309del/inC变异组的累积胚胎平均评分显著低于非变异组(12.9±0.5vs15.5±0.7,P=0.013),nt.249 delA变异组的受精率及累积胚胎平均评分显著低于非变异组(66.86±27.28%vs75.63±21.42%,P=0.046)(12.0±0.7vs14.7±0.5,P=0.013),变异位点数量与受精率及累积胚胎平均评分间存在线性相关。结论:线粒体基因组D-loop区变异位点发生率与年龄相关,且影响IVF-ET/ICSI的受精率及胚胎质量。
OBJECTIVE: To study the relationship between the mutation site of mitochondrial DNA D-loop gene and age and outcome of IVF-ET or ICSI. Methods: The gene mutation of nt128 ~ 599 in D-loop region of mitochondrial genome in 167 patients with IVF-ET or ICSI was detected by polymerase chain reaction (PCR) and direct gene sequencing. , And to compare the relationship among different age groups (group A: <35 years, group B: ≥35 years), age, IVF-ET or ICSI outcome. Results: There were 20 mutation sites, of which 5 were newly discovered mutation sites. The number of variation sites in group B (3.8 ± 1.8) was significantly higher than that in group A (2.6 ± 1.3), and the incidence of nt.332C → T in group A was significantly lower than that in group B (2.2% vs12.2%, P = 0.012) There was a linear correlation between the number of variation sites and age, with a correlation coefficient of 0.333. nt.332C → T, nt.249delA and nt.309del / inC were significantly higher in the mutation group than in the non-mutation group (P <0.05). The average score of the accumulated embryos in the nt.309del / inC mutation group was significantly lower than that in the non-mutation group (12.9 ± 0.5 vs15.5 ± 0.7, P = 0.013). The mean fertilization rate and cumulative embryo mean score of nt.249 delA mutation group were significantly lower than those of non-mutation group (66.86 ± 27.28% vs75.63 ± 21.42%, P = 0.046) (12.0 ± 0.7 vs 14.7 ± 0.5, P = 0.013). There was a linear correlation between the number of variation loci and fertilization rate and the average score of cumulative embryos. Conclusion: The incidence of D-loop mutation sites in mitochondrial genome is age-related and affects IVF-ET / ICSI fertilization rate and embryo quality.