115对反复流产夫妇的染色体分析

人们已熟知,染色体畸变是导致反篡流产 的重要细胞遗传学因素。我院遗传实验室自 1980-1985年对115对具有反复流产的夫妇, 进行了染色体的检查分析,发现7例异常者,女 性4例,男性3例,占3.0书(7/230)0据查国 内资料,未见报道。现将7例夫妇流产史及 异常核型列入表1,其中,例核型照片示于图 10     

294对自然流产夫妇的染色体分析

通过对294自然流产夫妇外周血染色体的检查,探讨了习惯性流产与染色体异常的关系。结果表明,异常核型24例中,染色体数目异常1例,结构异常22例,多太变异1例。染色体异常发生率是受检夫妇的8.16%（24/294）,是收件人群的4.1%（24/588）,高于一般人群染色体异常频率（0.5%）的8倍。并且发现10例世界首报核型。     

294对自然流产夫妇的染色体分析Chromosomes Analysis in 294 Couples with Spontaneous Abortion

通过对294自然流产夫妇外周血染色体的检查,探讨了习惯性流产与染色体异常的关系。结果表明,异常核型24例中,染色体数目异常1例,结构异常22例,多太变异1例。染色体异常发生率是受检夫妇的8.16%（24/294）,是收件人群的4.1%（24/588）,高于一般人群染色体异常频率（0.5%）的8倍。并且发现10例世界首报核型。     

罗伯逊易位分子机理初探

目的：探讨复发性自然流产与染色体罗伯逊易位间的关系。方法：采用人外周血淋巴细胞培养,常规G显带技术行染色体核型检查,并结合临床资料对其进行分析。结果：57对复发性自然流产夫妇中,检出罗伯逊易位染色体核型4例,检出率3.51%。结论：罗伯逊易位是导致复发性流产的重要原因之一,对复发性自然流产患者进行常规的染色体检查及遗传咨询具有一定的临床意义。     

反复流产夫妇的染色体分析

本文汇总分析了2326对反复流产夫妇的染色体变化,发现207例异常,占受检人数的4.44肠。平 衡易位159例,倒位30例,缺失3例,重复5例,性染色体异常10例。并报告一例世界首报核型。本文 结果表明：0）流产次数与具平衡易位携带者的可能性之间存有平行关系;(2）同源罗伯逊易位携带者 妊娠的结局表现为流产;(3）染色体不平衡程度大,流产次数多。     

229例流产绒毛染色体核型分析及两种长期培养方法比较

目的:探讨早期自然流产绒毛染色体核型分析在自然流产病因检测中的应用价值,并比较两种长期培养方法的差别。方法:选择孕早期自然流产的孕妇229例,在无菌条件下,从宫腔内取出绒毛,同时或单独经胰酶消化法与切碎贴壁法进行细胞培养,传代之后常规进行G显带,在显微镜下做核型分析。结果:229例流产胎儿绒毛,培养成功206例,成功率为89.96%。异常核型105例,异常率为50.97%,数目异常者101例,占异常核型的96.19%,以16三体最为多见。胰酶消化法的培养成功率及收获时间都显著优于直接贴壁法,差异具有统计学意义(P0.05)。结论:自然流产绒毛染色体核型分析对流产查因具有实用价值。胰酶消化法较切碎贴壁法对流产绒毛长期培养及染色体核型分析更具实用性。     

t(14;21)平衡易位携带者体细胞和生殖细胞的细胞遗传学研究

15%-20%的妊娠因为自发流产而中止,其中约50%是因为染色体异常所致.夫妇中的一方为平衡的染色体异常携带者时,即可能产生不平衡的配子和胚胎,临床症状可以有不同程度的变化：如不育、反复流产、甚至产出染色体综合症的患儿.以临床接诊的一对具有反复自然流产史夫妇为研究对象,常规进行精液、激素水平检测.取患者外周血淋巴细胞用RPMI 1640培养基进行短期培养,经低渗、固定处理制备染色体标本片,对染色体数目和结构进行核型分析.选用特异的21qter和14qter DNA标记作为探针,对患者外周血淋巴细胞中期染色体进行FISH分析.运用FISH技术对患者精子细胞进行研究,配合流式细胞分析技术对精细胞DNA组份进行检测,分析配子中遗传物质的组成及各种类型配子的比例.结果发现女方核型正常为46,XX,男方核型为罗伯逊易位的携带者45,XY-14,-21,＋t（14;21）.患者外周血体细胞的分裂相染色体FISH显示一个细胞中分别存在1个红色的21qter和1个绿色的14qter杂交信号,另外有1个红色和1个绿色信号共同存在于一条由易位形成的亚中着丝粒染色体上.在患者精液样本的精细胞FISH研究中,可以观察到5种不同类型的杂交信号,异常的配子的种类与理论推断相同,但各型所占的比例有其特点,结合精液中精细胞流式细胞术的分析表明,平衡的单倍体配子占71%,不平衡的配子占29%.通过国内外文献资料统计,对罗伯逊易位染色体的常见和罕见类型进行综述,为其生育的临床治疗方案提供建议.     

一个平衡易位t(2;7)家系的染色体分析

引起流产所能观察到的遗传因素,主要是染色体异常。近年来,细胞遗传学的研究发现,具有平衡易位的夫妇容易造成流产。 本文报告的就是因反复流产而前来求诊的一对夫妇,经检查,女方为t(2;7)平衡易位携带者,其家系3代中有4人均有同样的平衡易位染色体。     

5774例临床生育不良者异常染色体核型分析及32种人类染色体新核型报告

为了探讨异常染色体核型在临床生育不良人群中的分布及其与临床生育结局的关系, 采用常规方法制备外周血淋巴细胞染色体, 经G显带, 对 5 774例临床生育不良者做了外周血染色体核型分析, 检查出异常核型550 例。其中三体核型 255 例占 46.36％, 相互易位 91 例占 16.55％, 染色体倒位 85 例占 15.45％, 染色体缺失 81 例占 14.73％, 罗伯逊易位21例占3.82%, 短臂增加7例占1.27%, 大丫6例占1.09%, 随体异常4例占0.73%。其中 32 例为首次报道的新核型。其临床结局有流产、不育、先天畸形等。结果表明携带异常核型染色体, 可能是影响生育的重要原因之一。     

105种人类染色体新核型的细胞遗传学报道

为了探讨异常染色体的遗传效应, 采用细胞培养、G显带及C显带的方法, 根据人类遗传学国际命名体制(ISCN 2009)对染色体核型命名, 对2009年1月至2012年7月就诊广西壮族自治区妇幼保健院检出的新核型进行细胞遗传学及临床分析。在受检者中检出105种人类染色体新核型, 经检索国内外文献未见报道。其中易位86例, 倒位10例, 衍生染色体6例, 重复染色体1例, 等臂染色体1例, 部分重复和缺失1例。结果显示, 染色体异常是导致流产、不孕不育、先天畸形、智力低下、闭经等疾病的重要原因。     

Recent advances in the study of Kaposi's sarcoma-associated herpesvirus replication and pathogenesis

It has now been over twenty years since a novel herpesviral genome was identified in Kaposi's sarcoma biopsies. Since then, the cumulative research effort by molecular biologists, virologists, clinicians, and epidemiologists alike has led to the extensive characterization of this tumor virus, Kaposi's sarcoma-associated herpesvirus(KSHV; also known as human herpesvirus 8(HHV-8)), and its associated diseases. Here we review the current knowledge of KSHV biology and pathogenesis, with a particular emphasis on new and exciting advances in the field of epigenetics. We also discuss the development and practicality of various cell culture and animal model systems to study KSHV replication and pathogenesis.     

The structure, reproduction and taxonomy of Vidalia and Osmundaria (Rhodophyta, Rhodomelaceae)

Comprises species occurring mostly in subtidal habitats in tropical, subtropical and warm-temperate areas of the world. An analysis of the type species, V. spiralis (Sonder) Lamouroux ex J. Agardh, a species from Australia, establishes basic characters for distinguishing species in the genus. These characters are (1) branching patterns of thalli, (2) flat blades that may be spiralled on their axis, (3) width of the blade, (4) primary or secondary derivation of sterile and fertile branchlets and (5) position of sterile and fertile branchlets on the thalli. Application of the latter two characters provides an important basic method for separation of species into three major groups. Osmundaria , a genus known only in southern Australia, was studied in relation to Vidalia , and its separation from the Vidalia assemblage is not accepted. Species of Vidalia therefore are transferred to the older genus name, Osmundaria. Two new species, Osmundaria papenfussii and Osmundaria oliveae are described from Natal. Confusion in the usage of the epithet, Vidalia fimbriala Brown ex Turner has been clarified, and Vidalia gregaria Falkenberg, described as an epiphyte on Osmundaria pro/ifera Lamouroux, is revealed to be young branches of the host, Osmundaria prolifera.     

New or rare chromosome counts in Artemisia L. (Asteraceae, Anthemideae) and related genera from Kazakhstan

Fifteen chromosome counts of six Artemisia taxa and one species of each of the genera Brachanthemum, Hippolytia, Kaschgaria, Lepidolopsis and Turaniphytum are reported from Kazakhstan. Three of them are new reports, two are not consistent with previous counts and the remainder are confirmations of very scarce (one to four) earlier records. All the populations studied have the same basic chromosome number, x = 9, with ploidy levels ranging from 2x to 6x. Some correlations between ploidy level, morphological characters and distribution are noted.     

肝癌中HBV和HCV基因和抗原的分布及意义

采用原位分子杂交方法检测HCV RNA及HBV X基因;采用免疫组织化学方法研究HCV核心抗原,非结构区C33c抗原及HBxAg在肝细胞肝癌中的定位及分布.结果表明(1)HCV RNA、HBV X基因在肝细胞肝癌组织检出率分别为40%(55/136)和82%(112/136).HCV RNA定位于癌细胞的胞浆内,阳性细胞呈散在、灶状及弥漫分布三种形式;HBV X基因在肝癌细胞中的分布呈胞浆型、核型及核浆型,阳性细胞也呈上述三种分布形式;(2)HCV C33c抗原、核心抗原在肝细胞肝癌中的阳性率为81%(133/164)及86%(141/164).C33c抗原定位于癌细胞及肝细胞的胞浆内;核心抗原既定位于癌细胞核中,又可定位于胞浆中.C33c抗原阳性细胞以灶状分布为主;而核心抗原阳性细     

Selection with two alleles and complete dominance

For a plant selection model with frequency-independent viabilities, fertilities and selfing rates, it is shown that apart from global fixation, for certain parameter combinations a protected polymorphism and facultative fixation (either allele may become fixed according to initial frequencies) may both occur. Facultative fixation requires different selling rates for the dominant and recessive type. Protection of the polymorphism requires resource allocation for male and female function. In this connection the problem of purely genetically caused population extinction is discussed.
For general frequency dependence and regular segregation, the chances for establishment of a completely recessive gene are compared to those of a completely dominant gene. It is proven that the process of establishment of the recessive gene, despite a fitness advantage, may be considerably endangered by drift effects if random mating prevails. The recessive gene may reach the same effectivity in establishment as a dominant gene, only if the recessive homozygote mates exclusively with its own type during the period of establishment.