骨髓细胞染色体培养法对评价干扰素治疗慢粒白血病疗效的影响

慢性粒细胞白血病(CML)是一种克隆性疾病,绝大多数患者的白血病细胞有固定的细胞遗传学异常,表现为9号染色体和22号染色体长臂交互易位,即出现Ph染色体.Ph染色体在分子水平上形成bcr/abl融合基因[1].Ph染色体可以出现在CML的所有白血病细胞,故作为发病确诊和微小残留病的主要指标.α-干扰素(α-IFN)是目前CML的首选治疗方案,据认为可以达到细胞遗传学缓解即Ph染色体消失.我们观察了1994-1999年期间应用α-干扰素治疗慢性粒细胞白血病前后Ph+染色体的变化,并比较了应用直接法和短期培养法得到Ph的阴转率,并同时检测了8例患者的bcr/abl融合基因.     

66例血液病患者bcr/abl融合基因、Ph染色体结果分析

CML特异性费城染色体（Philadephia,Ph）是由t（9：22）（q34：11）易位形成。9号染色体原癌基因abl（Abelson protooncogene）易位至22号染色体的断裂点簇集区（breakpoint cluster region,bcr）,发生重排,产生bcr／abl融合基因,引起CML的始动突变。融合基因bcr／abl几乎见于所有的慢性粒细胞性自血病、25％-50％的急性B系淋巴细胞性白血病（ALL）和约5％的急性粒细胞性白血病中,本文统计了进行染色体和ber／abl融合基因检查的初诊血液病66例,对其骨髓细胞染色体核型及bcr／abl融合基因进行分析。     

25例慢性粒细胞白血病患者bcr/abl融合基因结果分析

目的探讨逆转录聚合酶链反应(RT—PCR)在检测慢性粒细胞白血病(CML)bcr/abl融合基因方面的应用价值。方法对25例慢性粒细胞白血病患儿血标本提取细胞RNA,用RT—PCR方法检测bcr/abl融合基因。结果 25例慢性粒细胞白血病bcr/abl融合基因分析,阳性24例(96%);阴性1例(4%)。结论 RT—PCR检测bcr/abl融合基因敏感性好,稳定性高,对临床治疗和预后判断具有指导意义。     

α-2b干扰素联合低剂量阿糖胞苷治疗慢性粒细胞白血病

α- 2 b干扰素 ( IFNα- 2 b)与低剂量阿糖胞苷 ( L D Ara- C)联合应用具有相加作用 ,可以减少或消除 Ph染色体阳性细胞和 bcr/ abl融合基因 ,显著提高慢性粒细胞白血病 ( CML)患者的血液学和细胞遗传学缓解率 ,延长 CML 患者的生存期 ,被认为是目前治疗 CML 最有前途的方案之一     

慢性粒细胞白血病和原发性骨髓纤维化患者bcr/abl融合基因表达及临床意义

目的探讨bcr/abl融合基因的表达水平在慢性粒细胞白血病(CML)和原发性骨髓纤维化(MF)患者的诊断、疗效及预后观察中的意义.方法采用荧光定量逆转录多聚酶链反应(RT-PCR)技术,对18例初、复治CML、7例MF患者的骨髓或外周血单个核细胞进行了bcr/abl融合基因检测,并对其中2例行异基因骨髓移植(allo-BMT)患者进行了短期随防.结果 13例慢性期(CP)CML,12例不同程度表达bcr/abl融合基因,占92.3%,3例加速期(AP),急变期(BC)CML,2例表达bcr/abl融合基因,占66.7%,2例患者allo-BMT后一年内未检出 bcr/abl融合基因,三者之间有非常显著差异P＜0.01;8例初诊患者WBC数及bcr/abl融合基因表达水平明显高于常规治疗组;7例MF患者有1例表达bcr/abl基因.结论 bcr/abl基因是CML发病的分子基础,定量检测bcr/abl融合基因对于CML的诊断、临床分型、疗效观察及预后判断有重要意义;MF患者可能与CML关系密切,对MF患者应进行跟踪观察.     

慢性粒细胞性白血病分子异质性的进一步证据

Ph染色体最初被认为是慢性粒细胞性白血病(CML)所特有,来自t(。;22)(q34;qzz)易位。最近的报道表明,ph(一)病人可有或无M一bcr重组,而其他Ph(一)骨髓性增生性疾患病人除少数不典型CML(ae ML)有M一ber重组外,其他均为原始M一bcr构型。作者采用细胞基因及分子学技术对一组CML或其他骨髓性增生性疾患病人进行了研究。本组包括     

Ph阳性急性白血病的细胞遗传学和分子学概述

Ph染色体最初认为是慢性粒细胞白血病(CML)所特有。染色体显带技术问世后,发现大多数CML Ph染色体是t(9;22)(q34;q11)易位。分子学研究显示:染色体易位后(断裂点在bcr区),BCR与ABL基因融合成一个杂合基因,该基因转录成一个异常的杂合mRNA,进而翻译成为bcr-abl杂合蛋白即P21~(ber-abl)。60年代和70年代分别报导过Ph阳性急性粒细胞白血     

成人Ph阳性急性淋巴细胞性白血病的分子异质性

Ph染色体最初认为是较短的第22号染色体,并在约90%的慢性粒细胞性白血病(CML)患者中发现。Ph染色体的t(9;22)将正常位于9号染色体的abl癌基因易位到22号染色体上,并与bcr基因融合,形成了新的bcr/abl融合基因,结果转录出新的8.5kb mRNA,由此翻译出具有210000分子量的融合蛋白质(P210)。在初次诊断为急性淋巴细胞性白血病 (ALL)的病人中,约5%的儿童和20～30%的成人也发现有Ph染色体。一些Ph(+)-ALL病人,可能在确诊前已处于未发现的CML慢性期。最近有二篇报道引起了作者的关注,一篇报道5例Ph(+)-ALL病人中的3例为bvr(-)。另一报道     

53例慢性髓系白血病细胞遗传学和bcr/abl融合基因检测

目的了解我院慢性粒细胞白血病(慢粒)染色体变异及融合基因表达与临床诊断和分期间的关系。方法染色体制备采用骨髓或外周血短期培养法,G显带,分析核型;融合基因检测则用逆转录-聚合酶链反应法(PCR法)。结果发现慢粒急变期的染色体,除具典型的Ph染色体外,还有 8、 9、i(16)q、i(17)q、-18等其它染色体改变。bcr/ab l融合基因显示慢粒急变期的患者,同时具有165bp和90bp扩增带。结论我们宜将细胞遗传学和PCR法结合,对慢粒白血病进行检测,即有助于对其诊断、预测急变、判断疗效及预后情况的深入了解。     

Ph-/ber-的不典型慢性粒细胞性白血病:生物学及临床特点

Ph染色体是慢性粒细胞性白血病(CML)的标记,约90%CML病人可检出Ph染色体(Ph+),10%左右的病例Ph阴性(Ph-),在Ph-/ber+病人,其临床过程通常与典型Ph+CML相似。关于Ph-/ber-CML目前报道尚少,作者在过去5年间对211例CML的诊治过程中,发现13例(6%)Ph-/ber-CML病例,本文介绍这些病人的生物学及临床特点。男性8例,女性5例,年龄38～77岁(平均62)仅1例年龄<55岁,所有病人均有脾肿大,平均WBC计数50×10~9/L,血小板130×10~9/L,6例血红蛋白≤10g/L。外周     

Level of functioning of siblings and parents of probands of varying degrees of retardation

A further analysis of already published data supports the position that retardates of low ability level less frequently have retarded siblings, retarded parents, and parents low in occupational level than do retardates higher in ability level. The analysis supports the position that there are two types of retarded individuals, persons retarded as a result of gene or chromosomal anomalies, brain injury, etc., who more frequently occur in the lower-level retardate group, and persons whose retardation represents polygenic segregation, who more frequently occur in the higher-level group.     

Modes of Inheritance of Errors of Refraction

Eighteen families in which both parents had refractions within the range of +4·0 D to −4·0 D and axial lengths seen in emmetropia (22·3-26·0 mm) showed coefficients of correlation of the order 0·5 indicative of polygenic inheritance. Such coefficients were seen for axial length (0·407) and for the cornea (0·487), but not for the lens (which is known to be yoked to the axial length). No such coefficients were seen in 19 families in which one of the parents had axial length outside the emmetropic range (nine families with long axes and 10 with short axes).

The pattern of polygenic inheritance for emmetropia (completely correlated optical components) and errors of refraction up to 4·0 D (inadequately correlated components: correlation ametropia) follows that seen in stature and other measurable characters. In contrast the high refractive errors with their abnormal axial lengths (component ametropia) are—like the extremes in stature—pathological anomalies with monofactorial inheritance.

     

Aspects of the problem of direct introduction of Standards of International Organizations

Editorial note. This article is published as part of a discussion. Particular issues of the article are disputable. First of all, this concerns the so-called “folder” method of introduction of international standards for medical devices to domestic medical practice (i.e., by direct translation of the standards and their publication as standardizing documents). Nevertheless, at least one of the problems, the problem of coordination between domestic state standards for medical devices and international recommendations of ISO and IEC, is undoubtedly of topical importance. Advancement of new health service legislation which is to be approved by law-makers will definitely introduce corrections into the present situation. The Editorial Board of Meditsinskaya Tekhnika believes this article will lessen these problems and to be welcomed by readers.