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1.
Nicola Flaum Emma J. Crosbie Richard J. Edmondson Miriam J. Smith Dafydd G. Evans 《Clinical genetics》2020,97(1):54-63
Ovarian cancer is the fourth most common cause of cancer-related death in women in the developed world, and one of the most heritable cancers. One of the most significant risk factors for epithelial ovarian cancer (EOC) is a family history of breast and/or ovarian cancer. Combined risk factors can be used in models to stratify risk of EOC, and aid in decisions regarding risk-reduction strategies. Germline pathogenic variants in EOC susceptibility genes including those involved in homologous recombination and mismatch repair pathways are present in approximately 22% to 25% of EOC. These genes are associated with an estimated lifetime risk of EOC of 13% to 60% for BRCA1 variants and 10% to 25% for BRCA2 variants, with lower risks associated with remaining genes. Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) thought to explain an additional 6.4% of the familial risk of ovarian cancer, with 34 susceptibility loci identified to date. However, an unknown proportion of the genetic component of EOC risk remains unexplained. This review comprises an overview of individual genes and SNPs suspected to contribute to risk of EOC, and discusses use of a polygenic risk score to predict individual cancer risk more accurately. 相似文献
2.
The main of this study was to evaluate the mutagenic and carcinogenic potential of (+) – usnic acid (UA), using Somatic Mutation and Recombination Test (SMART) and the test for detecting epithelial tumor clones (wts) in Drosophila melanogaster. Larvae from 72 ± 4 h from Drosophila were fed with UA (5.0, 10.0 or 20.0 mM); urethane (10.0 mM) (positive control); and solvent (Milli-Q water, 1% Tween-80 and 3% ethanol) (negative control). ST cross produced increase in total mutant spots in the individuals treated with 5.0, 10.0 or 20.0 mM of UA. HB cross produced spot frequencies in the concentration of 5.0 mM that were higher than the frequency for the same concentration in the ST cross. In the highest concentrations the result was negative, which means that the difference observed can be attributed, in part, to the high levels of P450, suggesting that increasing the metabolic capacity maximized the toxic effect of these doses. In the evaluation of carcinogenesis using the wts test, the results obtained for the same concentrations of UA show a positive result for the presence of tumors when compared to the negative control. We conclude that UA has recombinogenic, mutagenic and carcinogenic effects on somatic cells in D. melanogaster. 相似文献
3.
用带血管的胎儿甲状旁腺移植术治疗甲状旁腺机能低下症,共行手术6次(腹腔内移植5次,股三角区移植1次),6次中有3例术后发生4次排斥反应。经1年8月至3.5年随防,疗效显著者2例,有效2例,失败1例。本文讨论了有关甲状旁腺移植的手术方法、注意事项、免疫抑制剂应用等问题。 相似文献
4.
取正常成人心脏瓣膜36个,置于低浓度广谱抗生素的营养液(RP-MI1640细胞培养液)中灭菌48h,-80℃冰箱初冻,置于液氮中长期保存。灭菌前后瓣膜细菌培养阴性率分别为94.3%和100%,解冻后经光镜、电镜检查证实瓣组织细胞结构正常,组织培养葡萄糖消耗率测定示瓣组织存活良好。临床同种心脏瓣膜原位移植3例,随访6~30个月,瓣功能良好 相似文献
5.
目的探讨体内外基因转移F as配体(F as-ligand,F asL)对恶性人黑素瘤细胞凋亡的影响。方法用携带人F asL cDNA的缺陷型重组腺病毒(A d-F asL),在体外转导两株黑素瘤细胞,并使其表达;通过流式细胞仪、RT-PCR法进行F as/F asL表达检测,TUNEL法及荧光显微镜相关凋亡检测、分析。建立人黑素瘤裸鼠模型,并对其进行体内疗效观察及病理学检查。结果流式细胞仪和RT-PCR检测两株黑素瘤细胞表面均表达F as,不表达F asL,而A d-F asL转导的两株黑素瘤细胞均能表达F asL;A d-F asL能显著诱导两株黑素瘤细胞在体外凋亡或抑制其生长。体内疗效观察黑素瘤荷瘤鼠模型治疗组瘤重(0.48±0.16)g与对照组瘤重(1.02±0.19)g相比,差异有显著性(P<0.05)。肿瘤组织形态学检查,治疗组可见肿瘤细胞凋亡坏死区及炎性细胞浸润。结论F asL基因重组腺病毒在体内外均具有显著诱导人黑素瘤细胞凋亡的效果。 相似文献
6.
Benyam Asefa Paul Kauler Denis Cournoyer Shirley Lehnert T. Y.-K. Chow 《Current genetics》1998,34(5):360-367
The deoxyribonucleases (DNases) have been shown genetically to be important in the vital processes of DNA repair and recombination.
The NUD1 gene, which codes for an endo-exonuclease of Saccharomyces cerevisiae, was analyzed for its role in the DNA double-strand break (DSB) repair processes. While the nud1 strain is only slightly sensitive to ionizing radiation, expression of the HO-endonuclease to introduce a DSB at the MAT locus in that strain results in cell death. Cell survival is inversely proportional to the duration of HO-endonuclease expression.
Analysis of the surviving colonies from the nud1 strain indicated that many of the survivors are sterile and that the proportion of these sterile survivors increases with
the time of HO-endonuclease expression. On the other hand, the surviving colonies from the isogenic NUD1 strain are mating-proficient. Interestingly, double mutants of nud1 rad52 are more resistant to ionizing irradiation than the rad52 strain and have a cell-survival fraction of 32% for rad52-1 nud1 and 9% for rad52::URA3 nud1 following prolonged HO-endonuclease expression, indicating that nud1 has a suppressor effect on the DSB-induced lethality in rad52. Polymerase chain reaction analysis showed that many of the nud1 survivors contained small alterations within the MAT locus, suggesting that the survivors arose through the process of non-homologous end-joining. These results suggest that
the endo-exonuclease acts at a DSB to promote DNA repair via the homologous recombination pathway.
Received: 20 July / 20 September 1998 相似文献
7.
Caroline Hartmann Hervé Récipon Marie-France Jubier Christiane Valon Evelyne Delcher-Besin Yves Henry Jacques De Buyser Bernard Lejeune André Rode 《Current genetics》1994,25(5):456-464
The mitochondrial genome of the selfed progeny of a plant regenerated from long-term somatic tissue culture displays specific structural rearrangements characterized by the appearance of novel restriction fragments. A mitochondrial DNA library was constructed from this selfed progeny in the SalI site of cosmid pHC79 and the novel fragments were subsequently studied. They were shown to arise from reciprocal recombination events involving DNA sequences present in the parental plant. The regions of recombination were sequenced and the nucleotide sequences were aligned with those of the presumptive parental fragments. We characterized an imperfect short repeated DNA sequence, 242 bp long, within which a 7-bb DNA repeat could act as a region of recombination. The use of PCR technology allowed us to show that these fragments were present in both parental plants and tissue cultures as low-abundance sequence arrangements. 相似文献
8.
本实验对培养中的大鼠胎胰胰岛组织及其移植后的形态功能进行了观察。结果表明,大鼠胎胰经短期培养,不仅内分泌胰岛β细胞的活力保存良好,而且胰外分泌腺泡大大减少以致消失。21只糖尿病大鼠,同种移植经过7天培养的胎胰胰岛,未用免疫抑制剂,术后糖尿病缓解率76.2%。 相似文献
9.
^60Co消毒与高温高压消毒胚胎骨的实验研究 总被引:1,自引:0,他引:1
在12只健康家兔下颌骨体部的两侧各造成0.7cm×0.5cm×0.3cm的骨缺损区,分别置入^60Co消毒的胚胎骨和高温高压消毒的胚胎骨,发现高温高压消毒可以替代^60Co消毒胚胎骨进行移植,为临床提供了一种新的用作同种异体移植胚胎骨的消毒方法。 相似文献
10.
采用20~200U/ml的重组人肿瘤坏死因子(rhTNF-α)处理体外液相培养的人早幼粒白血病细胞珠HL-60,观察到50~200U/ml的小剂量TNF具有诱导其向单核-巨噬细胞途径分化及抑制其增殖的效应。采用细胞总RNA打点杂交技术检测1~100U/mlTNF诱导HL-60细胞早期(12小时内)对其c-myc,c-fos原癌基因表达的影响,发现TNF可抑制c-mycmRNA水平及c-fos短暂性表达增高。结果表明此小剂量rhTNF-α具有诱导白血病细胞分化的效应及调控多癌基因表达的作用。 相似文献