Effect of <i>Pleurotus ostreatus</i>on hyperglycemia, DNA damage and chromosomes aberrations

One of the main health problems with high and markedly increased complications is diabetes. Despite several projects with preventative strategies and armories of medication, the arrangement of diabetes remains grossly unsatisfactory. Thus, it is vital to identify unfamiliar drugs or novel nutraceuticals for treating and preventing diabetes without side effects. The present study deals with scientific information on mushrooms with regards to its potential use as anti-diabetic active food. In addition to the anti-hyperglycemic action of mushrooms, the present study presents its effect on DNA damage, chromosome aberrations and sperm alternations in streptozotocin-induced diabetic rats. These animals have been treated, for 30 days, with amaryl (as control treatment) (0.03 mg/kg·b·wt/dl), low-dose mushroom (100 mg/kg·b·wt/dl) and high-dose mushroom (200 mg/ kg·b·wt/dl). The glucose level GL of streptozotocin-induced diabetic animals has been markedly improved by mushroom treatment;for example GL has decreases from 167.6 mg/dl down to 116.0 mg/dl for treatment with high-dose mushroom and 128.9 mg/dl for treatment with low-dose mushroom, comparing with amaryl treatment that decreases GL down to 92.6 mg/dl. But, the experimental results show that treatment with mushroom is better than treatment with amaryl in case of genetic changes (DNA fragmentation, disappear of some base pairs and chromosome aberrations. So, it is proposed that more close scientific attention be paid to precede more research of functional mushrooms for preventive and curative treatments for diabetes.

45,X/47,XYY性发育异常一例并文献复习

45,X/47,XYY性发育异常是一种由于罕见的染色体异常导致的性发育异常疾病。报告1例收治的45,X/47,XYY嵌合型性发育异常患者,该患者主因原发性闭经并出现男性化表现就诊,具有特纳综合征(Turner syndrome,Turner综合征)的表现,腹腔镜探查显示一侧性腺为条索状,另一侧外观睾丸样,病理为卵睾型性腺,手术切除双侧附件并予人工周期治疗,有月经来潮。结合本例及检索到的文献报道的女性表型中因原发性闭经就诊的病例共11例,对该病的临床表现、诊断及治疗方式进行总结。女性表型45,X/47,XYY性发育异常患者临床表现多样,以Turner综合征表现合并男性化表现多见,应尽早发现并切除发育不良的性腺,防止性腺肿瘤的发生和男性化表现出现。术后进行长期激素替代治疗,同时注重患者精神心理的疏导。

低深度全基因组测序技术在复发性流产遗传学病因诊断中的应用

目的应用低深度全基因组拷贝数变异分析(CNV-seq)技术研究胚胎染色体异常在复发性流产(RSA)及偶发流产(SA)中的差异。方法采集158例RSA患者(RSA组)和244例SA患者(SA组)的流产组织进行CNV-seq检测,对可疑染色体异常的夫妇进行高分辨外周血染色体核型检测。结果402例样本中有2例检测失败,检测成功率99.5%(400/402)。共检测出染色体异常238例(59.5%),包括染色体数目异常212例(89.1%),致病性拷贝数变异25例(10.5%),单亲二倍体1例(0.4%)。RSA组和SA组总体染色体异常、非整倍体、三倍体发生率差异均无统计学意义。RSA组致病性拷贝数变异在染色体异常中的构成比显著高于SA组(P<0.05)。高分辨外周血核型分析检测共发现4例平衡易位携带者。35~39岁年龄段中SA组胚胎染色体异常率高于RSA组(P<0.05)。2组早期流产中胚胎染色体异常率均明显高于中期流产;早期流产中,SA组的流产组织(POC)染色体异常率高于RSA组(P<0.05)。结论CNV-seq可以对胚胎染色体数目异常和染色体片段重复/缺失进行精准诊断,在RSA和SA的遗传学病因诊断中同样重要,可为再生育指导提供依据。

45,X/46,XY染色体嵌合型不育症一例

45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核型分析和全基因组拷贝数变异(copy number variation,CNV)技术分析患者外周血提取的DNA,染色体核型诊断为45,X/46,XY嵌合型,外周血淋巴细胞染色体核型共分析50个染色体核型,核型诊断结果为45,X[27]/46,XY[23],全基因组CNV检测结果为-(mosaic)(Y)(64%),Y染色体微缺失检测结果为未见明显异常。45,X/46,XY染色体嵌合型男性表型案例较少,本例患者身材矮小,生殖器畸形,是临床表型较轻的男性表型患者。

颈项透明层增厚伴或不伴结构畸形胎儿CMA产前诊断及随访结果

目的分析颈项透明层(NT)增厚伴或不伴结构畸形胎儿染色体微阵列分析(CMA)产前诊断结果及随访结果。方法对2019年1月—2023年1月诊治的NT增厚且接受介入性诊断的106例孕妇临床资料进行回顾性分析,比较不同NT厚度CMA产前诊断结果及结构畸形现状,并根据是否伴有结构畸形分为伴结构畸形和不伴结构畸形,统计CMA产前诊断结果,随访其妊娠结局及新生儿情况。结果106例NT增厚胎儿中检出染色体异常21例(19.81%),检出结构畸形23例(21.70%)。不同NT厚度胎儿CMA异常检出率比较差异无统计学意义(P>0.05);不同NT厚度胎儿结构畸形检出率比较差异有统计学意义(P<0.01);NT增厚伴结构畸形胎儿CMA异常检出率(65.22%,15/23)高于不伴结构畸形胎儿(7.23%,6/83)(P<0.01)。共有98例(92.45%)孕妇完成妊娠结局随访。NT增厚伴结构畸形胎儿引产率(52.17%,12/23)、儿科住院率(100.00%,8/8)、死胎率(13.04%,3/23)、早产率(75.00%,6/8)高于不伴结构畸形胎儿[4.00%(3/75)、30.56%(22/72)、0、2.78%(2/72)],活产率(34.78%,8/23)低于不伴结构畸形胎儿(96.00%,72/75)(P<0.01)。结论NT增厚伴结构畸形胎儿染色体异常检出率及不良妊娠结局风险增加,建议同时行CMA检查,有利于发现染色体数目异常、微小缺失、微小重复等异常现象,为临床遗传咨询及处理提供相关依据。

一种提高流产组织染色体拷贝数检测精度和范围的新型技术及应用

目的 基于二代测序平台,本研究开发了一种新型染色体异常检测技术—CNV-plus,旨在探究该技术的检测性能及优势,为临床中拷贝数的高精度和全面检测提供新方法。方法 使用CNV-plus对共173例流产组织样本进行染色体拷贝数检测,并通过CNV-seq和STR两种方法的验证和补充,对比分析检测结果的可检出变异类型、检测一致性及检测精度。结果 CNV-plus技术与CNV-seq对CNV有100%的检测一致性,且检测精度更高,排除母源污染后,CNV-plus与STR对三倍体有100%的检测一致性。与CNV-seq和STR相比,CNV-plus还可检出纯合性片段(ROH)变异。此外,我们将CNV-plus应用于173例流产组织的染色体异常检测结果进行统计和分析,进一步探究了不同变异类型与年龄、孕周及流产次数之间的关系。结论 CNV-plus在实现更高精度的CNV-seq检测需求的基础上,增加了对ROH和三倍体的检测,这为临床上多种变异类型的全面检测提供了准确和可靠的理论依据。同时,探究不同变异类型与自然流产间的关系可为临床上不同异常类型胎儿的诊断和咨询提供一定的参考。

染色体变异、畸变与男性生殖激素水平及精子生成的研究

染色体变异和畸变可能与精子数量、形态和运动能力的异常相关,染色体变异和畸变可能对男性生育能力产生不利影响。虽然男性生殖激素水平的变化也可能与精子生成存在一定的关系,但其在染色体变异和畸变对精子生成的影响中扮演重要的角色。进一步研究染色体变异和畸变对精子生成的影响及其机制,有助于深入理解男性生育能力的形成过程,并为相关临床诊断和治疗提供科学依据。

中国成人急性髓系白血病遗传分子学特征及预后分析

目的:探讨急性髓系白血病(AML)遗传分子学特征及预后影响因素。方法:回顾分析160例初诊AML患者的临床资料,采用常规G显带技术进行染色体核型分析,实时荧光定量聚合酶链式反应法(PCR)检测融合基因,DNA测序技术检测基因突变情况,采用COX回归分析及Kaplan-Meier生存曲线分析影响患者总生存期(OS)的可能因素。结果:160例AML患者中,染色体核型异常者74例(46.2%),复杂核型15例(9.4%),单体核型18例(11.3%);160例患者突变频率排名前五的基因依次为WT1(22.5%),NPM1(16.9%),DNMT3A(16.9%),CEBPA(15.0%),FLT3-ITD(15.0%);DNMT3A、FLT3、IDH2、RUNX1基因突变者相比于未突变者生存期缩短(P<0.05),CEBPA基因突变者相比于未突变者生存期延长(P<0.05);多因素结果分析显示初次诱导未达CR、未行移植、预后不良组、伴DNMT3A突变、伴FLT3突变是AML患者OS的独立不良预后因素。结论:160例AML患者染色体异常及基因突变较常见,AML预后与患者遗传分子学特征、治疗反应及是否移植等相关。

76例性染色体非整倍体胎儿的产前诊断指征及妊娠结局分析

目的:分析性染色体非整倍体(SCA)核型分布、妊娠结局及出生后表型。方法:选取2011年7月-2022年4月于石家庄市妇幼保健院行羊水穿刺的孕妇11 063例,产前诊断指征为高龄、血清学筛查胎儿染色体异常高风险、胎儿游离DNA无创产前筛查(NIPT)高风险、产前B超检查异常、不良孕产史,分析其羊水染色体核型及产前诊断指征,随访SCA胎儿妊娠结局及出生后表型。结果:共检出SCA胎儿76例,检出率为0.7%。其中47,XXY占21.0%;47,XXX占14.5%;47,XYY占9.2%;45,X占7.9%;48,XXYY占1.3%;嵌合体占46.0%。76例SCA胎儿中,2例失访,17例(22.4%)继续妊娠;57例(75.0%)终止妊娠,包括16例47,XXY;5例47,XXX;5例47,XYY;6例45,X;1例48,XXYY及24例嵌合体,终止妊娠率分别为100%、45.5%、71.4%、100%、100%和68.6%。最常见的产前诊断指征是血清学筛查高风险(31.6%)和NIPT高风险(29.0%)。17例SCA胎儿生后随访发现,1例47,XXX患儿随访至4岁4个月,存在语言及智力发育迟缓伴癫痫发作;1例47,XYY患儿随访至1岁2个月,存在隐匿性阴茎;其余15例SCA患儿体格发育、语言发育、认知、生理结构及行为均未见异常。结论:SCA胎儿检出率为0.7%,常见的产前诊断指征为中孕期血清学筛查及NIPT高风险,血清学筛查和NIPT联合羊水染色体核型分析有助于SCA胎儿的检出;47,XXY和45,X终止妊娠率较高;47,XXX和SCA嵌合体胎儿,大部分出生后表型正常。

血清miR-155-5p和miR-146b-5p与继发性急性髓系白血病染色体畸变及预后的关系

目的探究血清微小RNA(miR)-155-5p和miR-146b-5p与继发性急性髓系白血病(sAML)染色体畸变及预后的关系。方法选择2017-05至2020-04空军军医大学第二附属医院血液内科收治的sAML患者26例,另外纳入同期在医院进行体检的健康人25名作为健康对照组。根据国际人类细胞遗传命名系统,将sAML患者分为染色体畸变组和染色体正常组。采用实时荧光定量PCR法检测血清miR-155-5p和miR-146b-5p水平,并记录患者随访期间的总生存期。结果与健康对照组相比,sAML组患者血清miR-155-5p显著升高[4.69(1.87,30.83)vs.1.13(0.79,1.78),Z=-4.070,P<0.001],而miR-146b-5p显著降低[1.79(1.55,2.44)vs.3.02(2.58,3.43),Z=-4.561,P<0.001]。二者联合诊断sAML的曲线下面积为0.922(95%CI:0.846~0.997)。与染色体正常组相比,染色体畸变组sAML患者血清miR-155-5p明显升高[19.26(4.45,46.65)vs.1.51(0.79,3.27),Z=-3.585,P<0.001],miR-146b-5p明显降低[1.55(1.50,1.97)vs.2.16(1.79,3.00),Z=-2.954,P=0.003]。血清miR-155-5p和miR-146b-5p水平识别染色体畸变的AUC分别为0.925(95%CI:0.826~1.000)、0.850(95%CI:0.703~0.997),联合AUC可提高至0.919(95%CI:0.812~1.000)。血清miR-155-5p和miR-146b-5p是染色体畸变的独立影响因素(P<0.05)。血清miR-155-5p高表达(≥4.27)和miR-146b-5p低表达(<1.62)患者的总生存率更低,中位生存时间更短(P<0.05)。Cox回归分析结果表明,血清miR-155-5p高表达和miR-146b-5p低表达是sAML患者死亡的独立危险因素(P<0.05)。结论血清miR-155-5p高表达和miR-146b-5p低表达与sAML患者染色体畸变和预后不良密切相关,二者有希望成为sAML染色体畸变和预后不良的风险预测指标。

45,X/46,XY混合性性腺发育不全患者采用卵母细胞捐赠获得活产1例及文献复习

目的:探讨45,X/46,XY混合性性腺发育不全的病因、诊断、治疗、受孕及分娩的临床特点,提高对此类患者的诊治及妊娠管理水平。方法:回顾性分析1例45,X/46,XY混合性性腺发育不全妊娠患者的临床资料并结合相关文献进行讨论。结果:通过患者第二性征发育不全、条索状性腺、染色体核型与社会性别不符等临床特征,结合性腺组织染色体畸变检测结果,确诊患者为45,X/46,XY混合性性腺发育不全,并给予“卵母细胞捐赠ICSI-ET治疗”获得活产。结合文献分析总结此类患者妊娠受孕、妊娠及分娩过程中的临床特点。结论:45,X/46,XY混合性性腺发育不全女性患者无生育能力,可通过卵母细胞捐赠获得妊娠,但此类孕妇的妊娠并发症的发病率以及异常分娩率均高于普通人群。明确诊断,加强妊娠风险评估,以改善围产结局。

In vitro Antigenotoxicity of Ulva rigida C. Agardh (Chlorophyceae) Extract against Induction of Chromosome Aberration, Sister Chromatid Exchange and Micronuclei by Mutagenic Agent MMC

Objective To determine the in vitro possible clastogenic and cytotoxic activities of Ulva rigida crude extracts （URE）, and identify their antigenotoxic and protective effects on chemotherapeutic agent mitomycine-C （MMC）. Methods Anti-clastogenic and anti-genotoxic activities of Ulva rigida crude extracts （URE） were studied using chromosome aberration （CA）, sister chromatid exchange （SCE）, and micronuclei （MN） tests in human lymphocytes cultured in vitro. Results The chromosome aberration, sister chromatid exchange or micronuclei tests showed that URE at concentrations of 10, 20, and 40 lag/mL had no clastogenic activity in human lymphocyte cell culture. Three doses of URE significantly decreased the number of chromosomal aberrations and the frequencies of SCE and MN when compared with the culture treated with MMC （P〈0.0001）. Conclusion Although URE itself is not a clastogenic or cytotoxic substance, it possesses strong antigenotoxic, anti-clastogenic, and protective effects on MMC in vitro.

Mathematical Modeling of Carcinogenesis Based on Chromosome Aberration Data

Objective： The progression of human cancer is characterized by the accumulation of genetic instability. An increasing number of experimental genetic molecular techniques have been used to detect chromosome aberrations. Previous studies on chromosome abnormalities often focused on identifying the frequent loci of chromosome alterations, but rarely addressed the issue of interrelationship of chromosomal abnormalities. In the last few years, several mathematical models have been employed to construct models of carcinogenesis, in an attempt to identify the time order and cause-and-effect relationship of chromosome aberrations. The principles and applications of these models are reviewed and compared in this paper. Mathematical modeling of carcinogenesis can contribute to our understanding of the molecular genetics of tumor development, and identification of cancer related genes, thus leading to improved clinical practice of cancer.

Antimutagenic potential of curcumin on chromosomal aberrations in Allium cepa

Turmeric has long been used as a spice and food colouring agent in Asia. In the present investigation, the antimutagenic potential of curcumin was evaluated in Allium cepa root meristem cells. So far there is no report on the biological properties of curcumin in plant test systems. The root tip cells were treated with sodium azide at 200 and 300 μg/ml for 3 h and curcumin was given at 5, 10 and 20 μg/ml for 16 h, prior to sodium azide treatment. The tips were squashed after colchicine treatment and the cells were analyzed for chromosome aberration and mitotic index. Curcumin induces chromosomal aberration in Allium cepa root tip cells in an insignificant manner, when compared with untreated control. Sodium azide alone induces chromosomal aberrations significantly with increasing concentrations. The total number of aberrations was significantly reduced in root tip cells pretreated with curcumin. The study reveals that curcumin has antimutagenic potential against sodium azide induced chromosomal aberrations in Allium cepa root meristem cells. In addition, it showed mild cytotoxicity by reducing the percentage of mitotic index in all curcumin treated groups, but the mechanism of action remains unknown. The antimutagenic potential of curcumin is effective at 5 μg/ml in Allium cepa root meristem cells.

Evaluation of genotoxicity of Trois through Ames and in vitro chromosomal aberration tests

Objective:To investigate the mutagenic potential of Trois using the bacterial reverse mutation assay(Ames test)and in vitro chromosomal aberration test.Methods:The ability of Trois to induce reverse mutations was evaluated in Salmonella lyphimurium(TA 98,TA100,TAI535 and TA1537)and Escherichia coli(WP2 uvrA)with and without metabolic activation system(S9 mix)at the dose range of 313 to 5000μg/plate.Chromosomal aberrations were evaluated in Chinese hamster lung(CHL)cell line at the dose levels of 15,7.5,3.7,1.9 and 0.9 mg/mL in the absence and presence of S9 mix.Results:There were no increases in the number of revertant colonies at any concentrations of Trois used in the study with and without S9 mix in all tester strains.Trois did not produce any structural aberration in CHL cells in the presence or absence of S9 mix.Conclusions:Results of this study suggest that Trois is non-mutagenic.

Analysis of chromosomes in ascitic fluid cells of ovarian carcinoma

Chromosomes in 1620 metaphases of ascitic fluid cells in 20 cases of ovariancarcinoma were analyzed.The results showed that there were marked structuralaberrations aside from significant increase in chromosomal numerical aberrations(85.2%).In the ascitic fluid cells from 12 patients,15 types of marker chromosomes were found,among which t(6;14)(q21;q24)and t(2;6)(q35;p12)were more frequently noted witha rate of 7.84% and 7.59% respectively,which was significantly higher than that of othermarker chromosomes(P【0.01).The findings suggested that,besides t(6;14)(q21;q24),t(2;6)(q35;p12)may also be a specific marker chromosome of ovarian carcinoma.

Induction of Chromosomal Aberrations by Propoxur in Mouse Bone Marrow Cells

Propoxur is a widely used dithiocarbamate insecticide. In this study, the clastogenic effect of propoxur has been evaluated using chromosomal aberration assay in mouse bone marrow cells. Single i. p. administration of propoxur, at 25 mg/kg b.wt., a maximum tolerated dose (MTD) and 12 .5mg/kg b.wt (50% of MTD) have significantly induced different types of aberrations after 24 h of treatment. The aberrations were dose and time dependent and reached a maximum after 24 h of exposure. The sresult suggest a genotoxic potential of propoxur.

<i>In Vitro</i>Chromosomal Aberration Frequency by Electrofishing on <i>Poecilia latipinna</i>(Sailfin Molly) Fishes in Southern of Iraq

The present studies describe Chromosomal aberration effects of electrofishing, which were evaluated on Poecilia latipinna, located in Shat Al-Arab river in Al-garmma city (south of Iraq). The electrofishing derive used in work is simulated to that used in the commercial fishing. The apparatus generates voltage ranged from 40 to 280 volts. Nine bearers of Poecilia latipinna sailfin molly fish in chromosomal analysis were divided into three treatments. The first were a control, the fishes of the second were exposed to 110 volts (10 seconds), and final groups were exposed to 110 volts (15 seconds). Mitotic index of the electrofishing with a control for each group decreased with increasing exposed time in somatic cell kidney tissue of Poecilia latipinna. The chromosome aberration analysis revealed a significant increase in the most frequent aberration per 150 metaphase in analyzed groups (1.33 in T1 groups, 39.33 in T2 groups) was chromosome break, fragment, range chromosome, Sticky chromosome mean, were higher in comparison to non exposed electrical shock fishing groups (control groups T1). At the same time, it showed a higher positive correlation of total chromosome aberration frequencies between T1 and T2 groups, while, all fishes died in T3 groups. According to our results, we represented the first record in Iraq.

The Level and Distribution of Chromosomal Aberration of Tomato Seeds at Different Penetration Depths of Carbon Ions

The relationship between the penetration depth and the level and distribution of chromosomal aberration of the root tip cells were investigated by exposure of the superposed tomato seeds to 80 MeV/u carbon ions. The results showed that on the entrance of the beam the chromosomal aberration level was low. Damage such as breaks aud gaps were dominant. At the Bragg peak~ the chromosomal aberration level was high. The yields of dicentrics~ rings and disintegrated small chromosomes increased but the yields of breaks and gaps decreased. These results are consistent with the distribution of tile physical depth dose profile of carbon ions. It is effective to deposit the Bragg peak on the seeds to induce hereditary aberration in the mutation breeding with heavy ions.

POTENTIATION OF CADMIUM-INDUCED CHROMOSOME ABERRATION BY DNA REPAIR INHIBITORS IN CHO CELLS

Effect of four DNA repair inhibitors on the frequencyof chromosome aberration induced by cadmium chloridewas investigated.3-Aminobenzamide (3 AB), inhibitor of poly(ADP-ribose) polymerase,increased the frequency ofinduced chromosome aberrations when it