蜗牛卵液对小鼠S_(180)肉瘤的抑制作用

[目的 ]探讨蜗牛卵液对小鼠S180 肉瘤的抑制作用 .[方法 ]按标准方法给 4 0只小鼠接种S180肉瘤细胞后 ,随机分成 4个组 ,即对照组 :每日灌胃生理盐水 10mL/kg ;实验 1组 :每日灌胃蜗牛卵液1 5 g/kg ;实验 2组 :每日灌胃蜗牛卵液 3 0 g/kg ;实验 3组 :每日灌胃蜗牛卵液 3 8g/kg ;连续 8d后 ,观察肿瘤质量变化及胸腺 (脾脏 )指数 .[结果 ]每日 1 5 ,3 0 ,3 8g/kg的蜗牛卵液对小鼠S180 肉瘤的生长抑制率分别为 38 2 % ,4 0 5 % ,5 4 4 % ,实验 3组的肿瘤抑制率高于对照组 ,两组间有显著性差异 ;实验2组和实验 3组的胸腺 (脾脏 )指数低于对照组 ,与对照组相比较亦有显著性差异 .[结论 ]蜗牛卵液对小鼠S180 肉瘤有抑制作用 .     

东方人苯丙酮尿症的分子遗传学—苯丙氨酸羟化酶基因中一终止突变与单体型4的连锁不平衡性

应用聚合酶链反应(PCR)方法扩增苯丙氨酸羟化酶(PAH)基因的每个外显子及其侧翼的内含子,并克隆到M 13载体中进行序列分析。发现中国人苯丙酮尿症(Phenylketonuria,PKU)患者的PAH基因外显子3中有1个Arg~(111)→Ter~(111)的点突变,此突变与东方人最常见的突变单体型4呈连锁不平衡。此突变占中国人PAH等位基因的10％左右,但不存在于高加索人群中,表明在种族分化过程中PAH基因位点发生了互不相关的突变事件。     

某医科大学中老年教职工健康状况分析

对１００４名５０岁以上中老年教职工进行健康检查。结果：健康者仅占１１．２５％，而８８．７５％的中老年教职工至少患有１例次疾病，最多患有５例次疾病，总例次患病率为１８６．９５％，男女例次患病率分别为１８７．２４％和１８６．６２％，男女间无差异。前５位疾病的顺位是：心血管疾病、呼吸系疾病、脑血管疾病、消化系统病、泌尿生殖疾病。     

Large French-Canadian family with Lewy body parkinsonism: exclusion of known loci.

The identification of rare, large families with Parkinson's disease (PD) has provided important clues that have contributed to our understanding of this complex disorder. We have identified a large French-Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two-point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well-documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of alpha-synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The alpha-synuclein(4q21.3-23), Parkin(6q25.2-27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase-L1 (4p14-16.3) and PARK6 and PARK7 (1p35-36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome-wide screen has been undertaken in an effort to identify a novel PD gene.     

Breast Cancer Genes

Abstract: The identification of familial breast cancer genes heralds an era of directed breast cancer treatment. Currently, two hereditary breast cancer genes have been identified, BRCA-1 and BRCA-2 . Although accounting for only approximately 5% of all breast cancers, they are being used to identify women with germ-line alterations that are at high risk of developing breast or ovarian cancer. With the identification of such genes comes a need for consideration of the ethical issues associated with testing. These genes are also being examined from a biochemical standpoint encompassing both their biological roles and biochemical pathways in which they reside. Such studies are likely to lead to novel breast cancer therapies.     

依托咪酯对豚鼠听诱发电位的影响

为探讨听诱发电位能否作为临床麻醉深度监测手段,采用非镇痛性麻醉药依托咪酯分次注入豚鼠腹腔,根据用药剂量模拟浅、中、深度麻醉,观察豚鼠听觉中潜伏期反应及听性脑干反应变化.结果显示,依托咪酯对听觉中潜伏期反应有明显抑制作用,且随麻醉深度加深而增强,但到一定深度后,出现“饱和”现象;中潜伏期反应谱峰明显向低频移动.依托咪酯对浅麻醉时听性脑干反应影响不显著,当麻醉加深时亦出现明显改变.提示中潜伏期反应及听性脑干反应结合使用,可以作为监测麻醉深度的客观电反应指标.     

福建莆田739例遗传咨询者细胞遗传学分析

目的 :探讨福建莆田遗传咨询者的医学细胞遗传学主要特征。方法 :采用细胞遗传学方法对 739例遗传咨询者进行外周血淋巴细胞检查。结果 :739例遗传咨询者中发现染色体异常 5 6例 ,异常率为 7.5 8% ,其中常染色体数目结构异常 4 3例 ,占 76 .9% ,性染色体异常 13例 ,占 2 3.1%。结论 :智力低下、不良孕产史、性发育异常与遗传染色体异常密切相关 ,不良孕产史推出异常核型率 3.31% ,较正常群体的 0 .5 %显著性增高 ,与文献报道基本符合     

基于混合遗传算法的心脏病决策支持系统研究

将遗传算法和 BP算法相结合 ,建立了一个基于混合遗传算法的心脏病决策支持系统来鉴别诊断五种常见心脏病 (冠心病 ,高血压性心脏病 ,风湿性心脏病 ,慢性肺原性心脏病和先天性心脏病 )。一个含有 35 2份心脏病的数据库用来构建和测试了该系统。实验结果表明 ,构建的系统对这五种心脏病均有较好的诊断识别率 ,系统的平均识别准确性达 90 .6 % ,各疾病的用户准确性和程序准确性均大于 85 .0 % ,表现出良好的心脏病的临床诊断决策支持能力     

Huntington’s Disease Genetics

Summary:Huntington’s disease (HD) is a dominantly transmitted neurodegenerative disorder with wide variation in onset age but with an average age at onset of 40 years. Children of HD gene carriers have a 50% chance of inheriting the disease. The characteristic symptoms of HD are involuntary choreiform movements, cognitive impairment, mood disorders, and behavioral changes which are chronic and progressive over the course of the illness. HD is a “trinucleotide repeat” disorder, which is caused by an increase in the number of CAG repeats in the HD gene. Repeats of 40 or larger are associated with disease expression, whereas repeats of 26 and smaller are normal. Intermediate numbers of repeats, between 27 and 35, are not associated with disease expression but may expand in paternal transmission, resulting in the disease in descendents. Repeats of 36–39 are associated with reduced penetrance whereby some develop HD and others do not. The identification of the genetic defect in HD permits direct genetic testing for the presence of the gene alteration responsible for the disease. Tests may be performed in three circumstances: (1) confirmation of diagnosis, (2) predictive testing of persons at genetic risk for inheriting HD, and (3) prenatal testing. Testing is widely available and much experience has been gained with protocols that assist the individual in making an informed choice about test options, and minimize the occurrence of adverse emotional outcomes.