不同印迹基因在人类不同阶段卵母细胞及植入前胚胎的表达及意义

目的:研究印迹基因lgf2r、H19、RB1、IPW在人类卵母细胞及植入前胚胎的表达,完善印迹基因在人类种植前胚胎的表达图谱。方法:应用RT-PCR技术检测目前尚未有明确报道在人类卵子及胚胎有正常表达的4条印迹基因在卵子和胚胎中的表达情况。结果:IPW在单个不同阶段卵母细胞和各期种植前胚胎均表达,其余在卵子和各期种植前胚胎均无明显表达。而4条目的基因在阳性对照人子宫内膜组织中均正常表达。结论:IPW在卵子和各期种植前胚胎均表达,其余在在卵子和各期种植前胚胎均无明显表达。完善印迹基因在人类种植前胚胎的表达图谱,尤其单细胞的研究,更有助于开展种植前遗传学诊断,为探讨印迹基因与辅助生殖、先天性印迹疾病以及肿瘤的关系提供理论依据。     

抑癌基因P16在卵巢肿瘤组织中的表达

抑癌基因ｐ１６在卵巢肿瘤组织中的表达杨红郑维国辛晓燕陈必良本研究应用免疫组化ＡＢＣ法及原位杂交方法，对７２例卵巢肿瘤及正常卵巢组织中的ｐ１６蛋白和ｍＲＮＡ进行了检测，并初步探讨了抑癌基因ｐ１６与卵巢癌发生、发展及生物学行为的关系。现报道如下。一、资料...     

印迹基因LOT1在卵巢上皮性癌组织中的表达及其甲基化的研究

LOT1基因是印迹抑癌基因，不遵循孟德尔遗传定律，正常情况下仅父系等位基因表达，母系等位基因印迹沉默，相当于功能上的单倍体，仅需一次突变就可诱发肿瘤，不同于传统的肿瘤二次突变学说，增加了肿瘤的易感性。此外，形成和维持其母系印迹的甲基化作用能够与基因突变一样诱发肿瘤，却是可逆的，因而印迹基因及其甲基化修饰成为肿瘤领域的研究热点。     

卵巢癌相关癌基因及抑癌基因的临床意义

卵巢癌相关癌基因及抑癌基因的临床意义冷金花，郎景和随着生物学技术的发展，对癌基因及抑癌基因的研究越来越受到重视。与卵巢癌有关的癌基因中，研究较多的主要有Ⅰ型生长因子受体家族成员，如表皮生长因子受体（ＥＧＦＲ）、Ｃ－ｅｒｂＢ２（ＨＥＲ－２／ｎｅｕ），其...     

癌基因bcl-2及抑癌基因p53在子宫内膜癌的表达及临床意义

目的：研究癌基因ｂｃｌ－２及抑癌基因ｐ５３在子宫内膜癌发生、发展中的作用。方法：采用免疫组化ＡＢＣ法检测４９例子宫内膜癌中ｂｃｌ－２、ｐ５３基因蛋白的表达。结果：４９例子宫内膜癌中２６例ｂｃｌ－２表达阳性，占５３％；１２例ｐ５３表达阳性，占２５％。子宫内膜癌组织学分级Ｇ１、Ｇ２ｂｃｌ－２表达率（６６％）显著高于Ｇ３表达率（２１％，Ｐ＜００５），而Ｇ３ｐ５３表达率（４６％）显著高于Ｇ１、Ｇ２表达率（１７％，Ｐ＜００５），ｂｃｌ－２表达阳性与阴性者生存率统计无显著性差异，ｐ５３表达阳性者生存率显著低于ｐ５３表达阴性者。ｂｃｌ－２、ｐ５３表达与肌层浸润、手术分期无明显相关。结论：癌基因ｂｃｌ－２与抑癌基因ｐ５３可能在子宫内膜癌发生的不同阶段起作用，抑制细胞凋亡，促进肿瘤的发展与转归。     

子宫内膜癌癌基因及抑癌基因的研究进展

子宫内膜癌癌基因及抑癌基因的研究进展薛凤霞，朱元喜，焦书竹随着分子生物学技术的发展，癌基因及抑癌基因在肿瘤发生、发展、诊断及治疗中的作用，已成为当今肿瘤研究的热点。近３年来，陆续有关于子宫内膜癌癌基因及抑癌基因的研究报道，现就此方面内容作一综述。一、...     

基因组印迹在卵子发育过程中的动态变化

基因组印迹是表观遗传学中的一个重要部分，是父母源等位基因的差异性表达．对胚胎发育和个体的健康具有非常重要的意义。印迹的机制主要是等位基因差异性甲基化。由DNA甲基转移酶控制。基因组印迹建立于配子发生时期，经历了擦除一建立一维持的重要过程，随配子和胚胎的发育而动态变化。基因组印迹错误可能导致胚胎发育障碍甚至死亡，也与一些疾病有关。     

基因组印迹在卵子发育过程中的动态变化

基因组印迹是表观遗传学中的一个重要部分,是父母源等位基因的差异性表达,对胚胎发育和个体的健康具有非常重要的意义.印迹的机制主要是等位基因差异性甲基化,由DNA甲基转移酶控制.基因组印迹建立于配子发生时期,经历了擦除-建立-维持的重要过程,随配子和胚胎的发育而动态变化.基因组印迹错误可能导致胚胎发育障碍甚至死亡,也与一些疾病有关.     

人类卵母细胞及植入前胚胎中母性效应基因Mater mRNA的表达

目的:了解母性效应基因Mater表达与人类卵母细胞及早期胚胎发育不同阶段的关系。方法:用巢式逆转录多聚酶链式反应(single cell nested RT-PCR)方法检测人类卵子和植入前各阶段胚胎的母性效应基因Mater mRNA的表达。结果:Mater在人类卵母细胞GV、MⅠ、MⅡ都有表达,植入前胚胎1、2、4、6细胞期表达量逐渐下降,到8细胞期、囊胚、孵出囊胚期均未检测到Mater mRNA表达。结论:人类卵母细胞和植入前胚胎Mater基因的表达量随发育时间的改变而变化,对卵子生长和胚胎发育有重要意义,与母性效应基因在小鼠等其他哺乳动物中的表达模式相似。     

子宫内膜癌抑癌基因PTEN突变和表皮生长因子受体表达的关系

定位于染色体 10ｑ2 3的ＰＴＥＮ基因 ,是第一个被发现的具有磷酸酶活性的抑癌基因[1] ,该基因的缺失与突变发生于多种恶性肿瘤。表皮生长因子受体 (ＥＧＦＲ)是受体酪氨酸激酶超家族中的一员 ,与ＰＴＥＮ蛋白有相反的酶活性。本研究对ＰＴＥＮ基因及ＥＧＦＲ在子宫内膜癌发生、发展中的作用及相互关系进行初步探讨。一、材料与方法1.研究对象 :选取我院 1996～ 1998年期间 ,70例子宫内膜癌石蜡标本作为内膜癌组 ,以每例标本相应的自身正常组织 ,如正常的卵巢、输卵管等组织石蜡标本作为对照组。病理诊断由专家确诊 ,并保证每张切片 (厚度为…     

HLA-G蛋白在人类着床前胚胎的表达

目的:探讨HLA-G在人类胚胎早期发育和免疫耐受中的作用和意义。方法:以体外受精-胚胎移植技术助孕过程中剩余的、自愿捐赠的人类早期胚胎作为研究对象,采用免疫荧光染色技术,检测人类着床前胚胎HLA-G蛋白的表达。结果:采用MEM-G/9单抗进行了HLA-G免疫荧光染色,20个2-8-细胞期的人类早期胚胎中15个胚胎HLA-G蛋白检测阳性;3个桑椹胚和5个囊胚均为阳性。结论:着床前人类早期胚胎表达HLA-G蛋白。     

Laser Scanning Confocal Imaging of Abnormal or Arrested Human Preimplantation Embryos

Purpose: The improved resolution and optical sectioning of a confocal microscope make it an ideal instrument for extracting three-dimensional information, especially from extended biological specimens such as human embryos. The staining of actin together with chromatin allowed us to specify the architecture of the embryo and the appearance of the nucleus. Methods: F-Actin and chromatin distributions were visualized using laser scanning confocal microscopy in fresh and cryopreserved human preimplantation embryos obtained by in vitro fertilization. Results: The current study revealed a high rate of multinucleation in arrested or poor-quality embryos (89%, in grade IV embryos). Conclusions: Confocal microscopy revealed high levels of multinucleated blastomeres, suggesting that the probable cause of arrested development in these embryos was due to multinucleation of blastomeres.     

Chromosomal Mosaicism in Cleavage-Stage Human Embryos and the Accuracy of Single-Cell Genetic Analysis

Purpose: Our purpose was to assess the effect of chromosomal mosaicism in cleavage-stage human embryos on the accuracy of single-cell analysis for preimplantation genetic diagnosis. Methods: Multicolor fluorescence in situ hybridization with X, Y, and 7 or X, Y, 7, and 18 chromosome-specific probes was used to detect aneuploidy in cleavage-stage human embryos. Results: Most nuclei were diploid for the chromosomes tested but there was extensive mosaicism including monosomic, double-monosomic, nullisomic, chaotic, and haploid nuclei. Conclusions: Identification of sex by analysis of a single cleavage-stage nucleus is accurate but 7% of females are not identified. One or both parental chromosomes 7 were absent in at least 6.5% of the nuclei. With autosomal recessive conditions such as cystic fibrosis, carriers would be misdiagnosed as normal or affected. With autosomal dominant conditions, failure to analyze the affected parents allele (1.6–2.5%) would cause a serious misdiagnosis and analysis of at least two nuclei is necessary to reduce errors.     

子宫内膜癌抑癌基因研究进展

子宫内膜癌是妇女常见的恶性肿瘤之一,发病率有逐年上升的趋势.随着分子生物学和免疫学的发展,关于子宫内膜癌分子水平的致癌机制研究日益深入,如癌基因、抑癌基因、DNA错配修复基因、雌激素代谢酶相关基因、甾体激素受体基因和细胞周期调控蛋白等.综述目前研究热点——抑癌基因的进展,为进一步探讨子宫内膜癌的发生发展、临床治疗及预后...     

子宫内膜癌抑癌基因研究进展

子宫内膜癌是妇女常见的恶性肿瘤之一,发病率有逐年上升的趋势。随着分子生物学和免疫学的发展,关于子宫内膜癌分子水平的致癌机制研究日益深入,如癌基因、抑癌基因、DNA错配修复基因、雌激素代谢酶相关基因、甾体激素受体基因和细胞周期调控蛋白等。综述目前研究热点——抑癌基因的进展,为进一步探讨子宫内膜癌的发生发展、临床治疗及预后的判断提供重要依据。     

Preimplantation sex selection demand and preferences in an infertility population

OBJECTIVE: To determine the demand and preferences of infertility patients for sex selection and the method and sex they would choose, and to investigate the relationship between these choices and their demographic and socioeconomic characteristics. DESIGN: Cross-sectional survey. SETTING: University hospital-based fertility center. PATIENT(S): One thousand five hundred consecutive women who presented for infertility care. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Self-report questionnaire assessing the demand and preferences for sex selection. RESULT(S): Of respondents, 40.8% wanted to select the sex of their next child for no added cost. Of these patients, 45.9% had no living children and 48.4% had children all of one sex. After adjustment for observed predictors of gender preference, we found a significant preference for a female child among women who were older, not religious, willing to pay for sex selection, had more living children, had only sons, or had a diagnosis of male infertility. Nulliparous women did not significantly prefer one sex over the other. Among parous women, those with only daughters significantly desired to select a male child, whereas those with sons significantly desired to select a female child. In terms of the method of sex selection, 55.0%, 41.0%, and 4.0% of the patients would use sperm separation, preimplantation genetic diagnosis, or neither method, respectively. CONCLUSION(S): There is significant demand among infertility patients for preimplantation sex selection, with a significant portion of this demand coming from patients who do not have any children or have children all of one sex.