Diabetes mellitus and the gene for Fanconi's anemia

An increased prevalence of diabetes mellitus has been found in relatives of eight probands homozygous for the rare recessive syndrome Fanconi's anemia. Since many of these relatives are expected to be heterozygous for the gene for Fanconi's anemia, this gene may predispose to diabetes in single dose.     

氟中毒致贫血的研究进展

氟中毒会造成多系统损伤,贫血是氟中毒的一个症状。研究氟可对红细胞膜、红细胞内糖代谢和酶活性产生破坏和/或抑制作用,从而对红细胞造成损伤,引发贫血;氟还对造血功能有一定的影响,包括氟对造血原料、造血器官和造血调控都有一定的作用。本文从氟中毒致贫血的机理方面进行了综述,并就氟对造血调控相关基因的可能影响进行了分析。     

左旋卡尼汀联用促红细胞生成素治疗血液透析患者肾性贫血的疗效观察

目的：观察左旋卡尼汀联合重组人促红细胞生成素（rhEPO）治疗肾性贫血的临床疗效。方法：54例维持血液透析的肾性贫血患者随机分为三组：A组18例．透析后静脉注射左旋卡尼汀1g;B组18例．采用rhEPO 3000IU皮下注射．2～3次／N;C组18例,透析后静脉应用左旋卡尼汀1g．同时应用rhEPO 3000IU皮下注射2～3次／N。观察三组患者治疗前及治疗4、8、12周的血浆白蛋白、血红蛋白、红细胞体积的情况。结果：随着治疗的进行,A组血浆白蛋白显著升高,与B组比较．差异有显著性（P〈0．05）;C组血浆白蛋白、血红蛋白上升最明显,与A、B组比较差异有显著性（P〈0．05）;C组rhEPO用量明显低于B组。结论：左旋卡尼汀可改善维持血液透析患者的状态．提高rhEPO的疗效．减少rhEPO的用量。     

大剂量益比奥治疗肾性贫血的疗效观察

目的 :观察大剂量益比奥治疗肾性贫血的疗效。方法 :维持血液透析的肾性贫血患者 36例随机分为两组 :对照组 1 8例 ,采用进口重组人红细胞生成素 (rh EPO)利血宝 30 0 0 IU皮下注射 2次 /周治疗 ;试验组 1 8例 ,采用大剂量国产 rh EPO益比奥 (EPLAO) 1× 1 0 4 IU皮下注射 1次 /周治疗。治疗期间观察血常规、血清电解质、肾功能、血压的变化及不良反应。结果 :试验组显效 1 1例 ,有效 6例 ,无效 1例 ;对照组显效 1 3例 ,有效 4例 ,无效 1例。结论 :大剂量 EPLAO每周 1次与常规剂量利血宝每周 2次治疗肾性贫血的疗效及不良反应 ,差异无显著性 ,但减少了注射次数 ,提高了患者的依从性 ,价格 /药效明显低于利血宝。     

Chlorinated urban water: a cause of dialysis-induced hemolytic anemia

Unexplained acute hemolytic anemia is sometimes seen in uremic patients undergoing hemodialysis. Chloramines, which are oxidant compounds made up of chlorine and ammonia and are widely used as bactericidal agents in urban water supplies, have been found responsible for two recent epidemics, in dialyzed uremic patients, of acute hemolytic anemia characterized by Heinz bodies. Chloramines produce denaturation of hemoglobin, both by their direct oxidizing capacity and their ability to inhibit red cell reductive (hexose monophosphate shunt) metabolism.     

F-cell production in sickle cell anemia: regulation by genes linked to beta-hemoglobin locus

Strong correlation of F-reticulocyte levels within sib pairs with sickle cell (SS) anemia suggests that the wide-ranging levels found in the SS population are governed by genes linked to the beta S-site. Correlations between F-cell levels in parents and F-reticulocyte levels in their children indicates that these same genes regulate F-cell production in nonanemic persons. Comparison of outcrossed and inbred SS populations suggests that relative well-being arises from homozygosity for alleles dictating high F-reticulocyte response to anemia.     

鸡传染性贫血病PCR试剂盒技术的研究及应用

根据鸡传染性贫血病毒（CIAV）的VP1、VP2基因序列的结构特点,设计合成了一对引物,建立了检测鉴别鸡传染性贫血病毒PCR技术,并研制出CIAV—PCR检测试剂盒。试验结果显示,该CIAV—PCR检测试剂盒对参考菌株和地方分离株均能特异性地扩增出420bp条带,而对其他禽病病原体的扩增结果为阴性;该CIAV—PCR试剂盒最低能检测出10fg的CIAV DNA模板;保存期测定结果显示,在-20℃条件下保存至1、3．6、9个月时,试剂盒的敏感性无明显变化,仍能检测到10～100fg的CIAV DNA模板,保存至12个月时其敏感度虽然降低了1个滴度,但仍能100％检出人工感染鸡的临床样品。表明该CIAV—PCR检测试剂盒对CIAV临床样品的检测具有特异、敏感、快速和准确的特点,适合在临床生产中推广使用。     

Zinc protoporphyrin in the erythrocytes of patients with lead intoxication and iron deficiency anemia

The fluorescent porphyrin in the erythrocytes of patients with lead intoxication or with iron deficiency anemia is zinc protoporphyrin that is bound to globin moieties, probably at heme binding sites.     

VP3基因突变鸡传染性贫血病毒的构建

以含CAV标准毒CuX-1株VP3突变体的pTCAVM阳性质粒为基础,通过重叠PCR在基因组位点nt682、nt808、nt829处进行定点突变,构建pTCAVM1、pTCAVM2、pTCAVM3突变体;在此基础上,对上述3个位点进行组合定点突变,构建成功pTCAVMa、pTCAVMb、pTCAVMc突变体;此外,成功构建克隆出3个位点均发生突变的pTCAVMd突变体。所有的突变体都保证VP3定点突变位点的碱基变化,同时不引起VP2蛋白的氨基酸残基序列发生变化,保证了突变体和原始病毒抗原性的一致;将得到的突变体转染易感细胞MSB1,获得具有复制特性的病毒,将病毒接种1日龄的SPF雏鸡,发现病毒可以在鸡体内复制,并引起CAV感染的病理学变化。本研究成功获得了多株感染性克隆毒株,为研究CAV病毒致病性以及开发鸡贫血弱毒活疫苗奠定了坚实的基础。     

Biallelic inactivation of BRCA2 in Fanconi anemia

Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or genes corresponding to FA subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins. Functional complementation of FA-D1 fibroblasts with wild-type BRCA2 complementary DNA restores MMC resistance. Our results link the six cloned FA genes with BRCA1 and BRCA2 in a common pathway. Germ-line mutation of genes in this pathway may result in cancer risks similar to those observed in families with BRCA1 or BRCA2 mutations.     

Hemoglobin aggregation in single red blood cells of sickle cell anemia

A laser light scattering technique was used to observe the extent of hemoglobin aggregation in solitary red blood cells of sickle cell anemia. Hemoglobin aggregation was confirmed in deoxygenated cells. The light scattering technique can also be applied to cytoplasmic studies of any biological cell.     

Granulocytopenia and anemia in rats fed diets of low case in content

Severe granulocytopenia and anemia were developed uniformly in rats fed protein-free diets. Casein (18 per cent) prevented these dyscrasias, but crystalline L. casei factor ("folic acid") did not prevent them. In the correction of granulocytopenia in rats fed protein-free diets, L. casei factor alone was only slightly effective, diets of higher casein content (18 or 30 per cent) were ineffective under the experimental conditions described. However, L. casei factor combined with an 18-per cent casein-containing diet or L. casei factor combined with a mixture of purified amino acids were found to be highly effective in correcting the granulocytopenia.     

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia. The first involves the primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the exponential increase (220,000 times) of target DNA copies. In the second technique, the presence of the beta A and beta S alleles is determined by restriction endonuclease digestion of an end-labeled oligonucleotide probe hybridized in solution to the amplified beta-globin sequences. The beta-globin genotype can be determined in less than 1 day on samples containing significantly less than 1 microgram of genomic DNA.     

鸡贫血病毒安徽分离株感染性克隆的构建及其感染特性

鸡贫血病毒（chicken anemia virus,CAV）是诱导雏鸡发生免疫抑制的重要病原之一。应用PCR方法从安徽某鸡场送检病鸡肝组织中检测并鉴定CAV,扩增病毒全基因组序列插入pcDNA3.1(+)载体,并引入含Kpn I （GGTACCCAG）酶切位点的9 bp外源性标签,获得顺次连接的双拷贝CAV基因组的重组质粒,通过脂质体介导转染鸡MDCC-MSB1淋巴细胞并拯救出CAV感染性克隆毒株。经动物试验,感染性克隆毒株在接种1日龄健康雏鸡后15 d,对胸腺等免疫器官指数影响较小,胸腺病变不明显,表明其感染能力减弱,为进一步分析CAV致病机制和筛选疫苗候选株奠定基础。     

用PCR、斑点杂交及间接免疫荧光试验诊断鸡传染性贫血的初步研究

利用地高辛标记的０８５ ｋｂ 的鸡传染性贫血病毒 （ Ｃ Ａ Ｖ） 核酸探针, 对江苏某地区疑为 Ｃ Ａ Ｖ 的１５～３０日龄病鸡的肝 Ｄ Ｎ Ａ 样品进行斑点杂交。结果在被检的２０份样品中有６份为阳性,阳性率为３０％ 。对相同样品根据已知引物（特异性扩增出 Ｃ Ａ Ｖ 的０５８ ｋｂ Ｄ Ｎ Ａ） 进行 Ｐ Ｃ Ｒ 扩增, 所得结果与斑点杂交相同。对应的病鸡血清经间接免疫荧光试验 （ Ｉ Ｆ Ａ）, 有７份为 Ｃ Ａ Ｖ 抗体阳性, 与 Ｐ Ｃ Ｒ 扩增结果的符合率为８３％ 。初步结果表明, 江苏某地区存在 Ｃ Ａ Ｖ 感染。     

犬免疫介导溶血性贫血的诊治

免疫介导溶血性贫血是一种与自身红细胞抗体有关的溶血性贫血。患犬高度贫血和溶血,死亡率高达40%以上,多为再生性贫血。可采取支持疗法,缓解贫血、脱水和继发并发症。同时结合药物治疗抑制免疫系统,使红细胞免受攻击并促使骨髓产生新的红细胞。     

消化道肿瘤贫血患者促红细胞生成素与贫血治疗方案的关系

目的分析消化道肿瘤患者内源性促红细胞生成素水平及贫血状态,探讨使用重组人促红细胞生成素治疗消化道肿瘤相关性贫血的方案.方法内源性促红细胞生成素采用Elisa检测,血红蛋白采用常规检测.消化道肿瘤非贫血患者为对照组,消化道肿瘤贫血患者组为观察组.结果统计发现男女之间的贫血率没有差异,消化道肿瘤相关性贫血患者占38.95%,其中以胃癌居首,占42.2%,食管鳞癌最低,占35.6%.消化道肿瘤患者在化疗前贫血比非贫血患者EPO高而Hb低,两者存在逆相关关系,化疗后贫血患者Hb继续降低,EPO上升;而在化疗后非贫血患者中出现的26例贫血患者,其中16例出现EPO急剧上升,10例EPO几乎不变,EPO存在极显著差异,具有统计学意义,而Hb没有明显的差异.结论消化道肿瘤相关性贫血发生率较高,在临床治疗中要密切关注.     

禽白血病病毒和鸡传染性贫血病毒二重荧光LAMP检测方法的建立及应用

【目的】建立同时鉴别ALV和CIAV的二重荧光环介导等温扩增（LAMP）检测方法,为临床上快速诊断及有效防控ALV和CIAV的单一或混合感染提供技术支持。【方法】参考ALV （A亚群、B亚群、C亚群、D亚群和J亚群）的pol基因和CIAV的VP2基因保守序列,设计2套用于LAMP的特异性引物,并在ALV和CIAV的F1c和B1c覆盖区域分别设计双标记探针[ALV-Probe （5'端标记FAM荧光基团,3'端标记BHQ3淬灭基团）和CIAV-Probe （5'端标记CY5荧光基团,3'端标记BHQ3淬灭基团）]。在Loopamp LA-320C实时浊度仪中反应结束后,将反应管置于多色荧光系统内进行观察分析;并通过特异性试验、灵敏度试验及临床样品检测验证二重荧光LAMP检测方法的适用性和可靠性。【结果】优化后的二重荧光LAMP反应体系20.0μL:DNA/cDNA模板2.0μL,2×Reaction Mix 10.0μL,Bst DNA聚合酶0.8μL,内引物ALV-FIP、ALV-BIP、CIAV-FIP和CIAV-BIP （工作浓度40.0μmol/L）各0.8μL,外引物ALV-F3、ALV-B3、CIAV-F3和CIAV-B3（工作浓度5.0μmol/L）各0.4μL,ALV-Probe （工作浓度0.5μmol/L）0.4μL,CIAV-Probe （工作浓度0.5μmol/L）0.8μL,以ddH₂O补足至20.0μL。扩增程序:62℃反应60 min,80℃灭活5 min。建立的二重荧光LAMP检测方法能特异性同时检测ALV和CIAV,对其他禽类病原体无特异性扩增;检测CIAV和ALV单一模板的下限均为102拷贝/μL,检测混合模板时ALV的检测下限为102拷贝/μL、CIAV的检测下限为103拷贝/μL。应用建立的二重荧光LAMP检测方法对13份咽喉和泄殖腔棉拭子样品进行检测,其检测结果与常规PCR检测结果的吻合率达100%。【结论】建立的二重荧光LAMP检测方法能实现在同一反应管内鉴别诊断ALV和CIAV,具有特异性好、敏感性高及污染风险小等优点,且检测结果可通过多色荧光系统进行肉眼观察,适用于ALV和CIAV的临床快速筛查。     

补铁对白鼻子病貉血清·十二指肠和肝脏铁含量变化的影响

貉的白鼻子病发病率很高,对毛皮动物养殖业造成了较大的危害。研究发现白鼻子病貉有小细胞低色素性贫血和缺铁症。对白鼻子病患貉进行肌肉和口服2种途径补饲右旋糖酐铁发现,肌注补铁途径可以有效改善患貉贫血和缺铁症。这说明＂白鼻子＂病貉的低色素小细胞性贫血为缺铁性贫血,铁缺乏是由于肠道对铁的吸收障碍所致。