线粒体DNA A1555G突变在新生儿大规模筛查的临床意义

目的 探讨在新生儿中进行线粒体DNA(mitochondria DNA,mtDNA)A1555G突变基因大规模筛查在预防药物性耳聋的必要性.方法 随机取2008年在深圳市出生的1000名新生儿的血滤纸标本,用Chelex-100树脂提取DNA,PCR扩增,变性高效液相色谱法(denaturing hig-performance liquid chromatography,DHPLC)进行mtDNA A1555G突变基因筛查,计算出阳性突变频率.结果 1000名新生儿血滤纸样本中,共检测出2例样本存在mtDNA A1555G突变,突变率为0.2%.结论 mtDNA A1555G突变在新生儿中出现的频率较高,对其进行mtDNA A1555G突变大规模筛查发现氨基甙类抗生素敏感个体,能有效地对新生儿及其家族高危人群进行合理性指导用药,从而更好地预防药物性耳聋.     

循环DNA定量分析在乳腺癌诊断中的应用

目的:检测乳腺癌患者循环DNA含量,探讨其在肿瘤诊断中的价值。方法:收集61例乳腺癌患者、33例乳腺良性病变患者和20例健康志愿者的血浆样本,以SYBRgreenI荧光染色法抽提血浆循环DNA,行DNA定量分析。结果:乳腺癌患者、乳腺良性病变患者、健康志愿者循环DNA浓度分别为65.46士15.31ng/ml、19.29士9.54ng/ml、13.56士7.39ng/ml;乳腺癌患者显著高于乳腺良性病变患者和健康志愿者,差异有显著性意义(P<0.05)。结论:血浆肿瘤循环DNA定量分析在乳腺癌诊断中有较高的应用价值。     

中国云南怒族群体线粒体DNA D环区SNP遗传多态性研究

目的观察怒族群体线粒体DNA单核苷酸多态性（single nucleotide polymorphism,SNP）的群体遗传特点,为法医学鉴定提供线粒体DNA序列多态性的基础数据,并为研究少数民族起源提供科学依据。方法应用ABI3730型遗传分析仪,PCR产物直接测序法,对87名中国云南怒族无关个体线粒体DNAD环Ⅰ区进行序列分析。结果在mtDNA高变区SNP16028～16362之间与Anderson序列比较,怒族87名无关个体中共检出62个碱基突变SNP位点,突变点492个,59个SNP单倍型。怒族mtDNA两个高变区SNP基因差异度为0.9675,偶合概率为0.0437。结论怒族线粒体DNAD环Ⅰ区SNP具有高度多态性,是对怒族群体的个体识别、亲权鉴定以及民族起源的分子研究有用的遗传标记。     

乳腺叶状肿瘤染色体异常的比较基因组杂交分析初探

乳腺叶状肿瘤是一种较少见的乳腺肿瘤,近年来其发病率有逐渐增高的趋势。2003年WHO新分类中将其分为良性、交界性、恶性3种,其不同的病理类型反应了该瘤由良性发展为恶性的过程。我们应用比较基因组杂交（comparative genomic hybridization,CGH）技术分析乳腺叶状肿瘤不同类型染色体基因组DNA拷贝数的变化,初步探索该肿瘤的分子细胞遗传学变化,为进一步从全基因组染色体角度研究该瘤的恶变机制提供较有价值的资料。     

家族性乳腺癌线粒体基因组控制区突变研究

目的研究家族性乳腺癌线粒体基因组控制区(D-loop区)突变的情况。方法用PCR技术,对来自21个家系的23例家族性乳腺癌患者和18名正常对照者线粒体DNA(mitochondrial DNA,mtDNA)的D-loop区进行扩增并基因测序,分析突变。结果在23例乳腺癌患者mtDNA的D-loop区共发现126个突变位点,4个为新发现的突变;37个突变分别发生在所有23例患者D-loop区的突变热点D310区;在所有突变中,第310位点的T→C,311～312位点的TC插入,522～523位点的CA缺失和527位点的C→G是高发突变位点;同一家系中乳腺癌患者D310区的突变与正常对照不同。结论家族性乳腺癌患者D310区的突变可能提高了其对乳腺癌的易感性。     

维吾尔族及汉族早发性乳腺癌 BRCA1基因突变分析

目的研究维吾尔族及汉族早发性乳腺癌患者BRCA1突变情况及突变位置。方法选取35例维吾尔族及汉族早发性乳腺癌根治标本（其中维吾尔族早发性乳腺癌22例，汉族乳腺癌13例），对照组为32例维汉族乳腺良性病变（纤维腺病及纤维腺瘤）及乳腺癌旁非癌组织；运用PCR—SSCP和DNA序列测定的方法检测BRCA1基因突变。结果（1）35例新疆早发性乳腺癌（≤35岁）BRCA1突变率为22．86％（8／35），22例维吾尔族早发性乳腺癌BRCA1突变率为31．82％（7／22）。（2）35例新疆早发性乳腺癌中发现8例BRCA1突变的12个新位点，其中2例突变位点IVS20-68insA均为维吾尔族早发性乳腺癌患者。（3）35例新疆早发性乳腺癌中发现7例BRCA1基因核苷酸多态性，对照组32例维吾尔族及汉族乳腺癌旁非癌组织及乳腺良性病变中仅发现1例BRCA1基因核苷酸的多态性。结论BRCA1突变可能与新疆早发性乳腺癌尤其是维吾尔族早发性乳腺癌密切相关，其突变位点IVS20—68insA可能是新疆维吾尔族早发性乳腺癌的遗传易感性位点，尚需扩大样本进一步研究证实。     

79例中国人结直肠癌 APC 基因突变分析

目的：研究中国人结直肠癌中 APC 基因的突变频率及分布特点。方法应用聚合酶链反应（ PCR ）产物直接测序法,对79例中国结直肠癌患者肿瘤标本中 APC 基因突变密集区（ MCR ）中的突变进行检测,并对该基因突变与相关临床病理参数之间的关系进行分析。结果在79例肿瘤标本中检出 APC 基因的总突变率为31.6％（25／79）。点突变频率为20.3％（16／79）,其中有12例无义突变及4例错义突变;另有11％（9／79）的突变是由缺失或插入导致的移码突变。12例无义突变及9例移码突变导致截短突变（27％）,占总突变率的84％。 APC 基因突变表现为区域密集,密码子1281-1352和1411-1465为突变频率较高的2个区段,其突变率分别为16.5％和15.2％。突变频率较高的位点为密码子1450、1421、1306和1286。统计分析结果显示,癌组织中 APC 基因突变与患者的年龄、性别、肿瘤位置、浸润深度、淋巴结转移情况、分期、大体分型和组织分化程度无关。结论中国人结直肠癌中存在较高频率的 APC 基因突变,截短突变为其主要突变类型。同时,本研究在 APC 基因的 MCR 中发现2个突变热点区及4个潜在突变热点。     

Leber遗传性视神经病三个家系患者线粒体DNA突变位点的研究

目的对Leber遗传性视神经病（Leber’s hereditary optic neuropathy，LHON）家系的原发突变位点11778与继发突变位点9804、13708、13730、15257进行突变分析，探讨两者之间相关性及对LHON的影响。方法应用聚合酶链反应一单链构象多态性和DNA测序对3个LHON家系37位母系成员和47名正常人的线粒体DNA（mitochondrial DNA，mtDNA）进行检测。结果16例患者及其母系亲属均存在11778位点突变，未发现9804、13708、13730、15257位点突变，但DNA测序发现13759、13928、13942、15301、15326、15323这6个新突变位点。结论3个家系都存在mtDNA11778位点突变，在13759位点患者突变率远高于正常人，差异有统计学意义（P〈0．001），表明13759是LHON新的继发突变位点。     

运城地区耳聋患者常见耳聋基因突变分析

目的通过筛查运城地区耳聋患者常见耳聋基因GJB2、PDS和线粒体DNAl555位点的突变频率,来研究该地区常见耳聋基因突变的发生情况。方法采集运城市特殊教育学校75例耳聋患者外周血,对目的基因扩增并测序。结果75例患者中,45例患者的GJB2基因发生突变,其中,c．235delc、e．79G〉A和c.341A〉G的突变频率较高,分别为12％、22％和18．7％,另外还检测出4个突变频率较低的位点C．608T〉C（2％）、C．109G〉A（0．67％）、c．368C〉A（1．33％）和C．176—191del16（0．67％）;3例患者的PDS基因第19外显子发生突变,C．2168A〉G与IVs7—2G〉A突变频率分别为1．33％和2％;仅有1例患者mtDNA1555发生突变。结论通过对山西运城地区常见耳聋基因突变的研究,对建立山西省耳聋基因突变数据库提供素材,同时也为耳聋的预防,基因诊断及治疗提供强有力的依据。     

良恶性乳腺肿瘤外周血基因差异表达研究

目的:利用基因表达谱数据,探讨良恶性乳腺肿瘤患者外周血基因表达变化。方法:从GEO 数据库中获取良性和恶性乳腺肿瘤患者外周血单个核细胞(PBMCs)表达谱。GEO2R 在线工具筛选差异表达基因, DAVID 工具富集基因功能和通路。STRING 数据库构建差异表达基因蛋白产物相互作用的网络,筛选核心基因。结果:良恶性乳腺肿瘤分别筛选到563和237 个差异基因,乳腺癌差异基因涉及白细胞激活、血管生成等生物学过程以及白细胞跨内皮迁移信号通路。IL8、RHOB、ITGB1 等为关键基因。结论:良恶性乳腺肿瘤患者外周血基因表达模式存在明显差异,为将外周血作为替代材料应用于乳腺肿瘤的诊断及监测研究开辟了新思路。     

Secular change in menarche in women in Madrid

The age at menarche was estimated by recollection in 1617 women between the ages of 18 and 60 in Madrid and a nearby suburb, Pinto. The population of Pinto is working-class and the Madrid group, taken from residential neighbourhoods , belongs to the upper middle class. In both groups we found a diminution in average age at menarche, from 14.04 to 13.02 years in Madrid and from 14.55 to 13.16 years from about 1935 to about 1965 in Pinto. These changes have been more intense in the group which is less well-off economically, where living conditions have varied much more drastically.     

Intestinal helminthiasis in school children in Haiti in 2002

A survey on intestinal helminths in school children was conducted in Haiti in 2002. This first nationwide study involving the entire country was stratified by department according to urban and rural zones using the cluster method. Focusing on elementary school children (n=5792; age range 3 to 20 years), it involved 26 urban and 49 rural schools randomly selected. Stools were preserved in formalin and examined by the Ritchie technique. Thirty-four per cent of stools (1981/5792) tested positive for intestinal helminths with the following parasites identified: Ascaris lumbricoides (27.3%), Trichuris trichiura (7.3%), Necator americanus (3.8%), Hymenolepsis nana (2%), Taenia sp. (0.3%) and Strongyloides stercoralis (0.2%). The helminth prevalence was higher in rural (38.4%) compared to urban areas (30%). There was no significant difference in prevalence by sex and age. The importance of geohelminths changed from one department to another with the highest prevalence found in the Southern department of Grande Anse (73.7%) and the lowest prevalence in the Center department (20.6%). Five out of the country's nine departments had a similar prevalence varying from 25.5% to 28.2%. Intestinal helminthic polyparasitism was observed in a percentage of infested school children comprise between 3.4% and 28.6% according in relation to the geographical area. A program to fight against geohelminths in school children should be initiated as a public health priority. Albendazole is the drug of choice. Frequency of drug distribution should be based on the prevalence of geohelminths in each department.     

Experience in adult population in dengue outbreak in Delhi

A dengue outbreak has recently hit the Indian capital. We studied the clinical profile of adult patients. Five hundred and sixty patients of dengue infection were admitted in a specially created ward according to the criteria laid down by WHO. Haematemesis (28.28%), epistaxis (26.78%) and malena (14.28%) were some of the common presentations. Similarly lymphadenopathy, especially cervical (30.89%), palatal rashes (26.96%) and hepatomegaly (23.75%) were the most commonly encountered findings on physical examination. Most of the cases were of dengue fever with haemorrhage and only 2.5% cases were classified under dengue haemorrhagic fever or dengue shock syndrome. The average hospital stay was 3.4 days but only 9.8 hours in the eleven patients who died, suggesting their late arrival in preterminal situation giving little time for resuscitation. Thrombocytopenia was not a feature and only 12.85% patients had platelet count less than 70,000/cmm. Most of the patients who were admitted with thrombocytopenia, showed normalization in their platelet counts in next few days. Serological examination demonstrated evidence of recent dengue infection in 41.17% patients. Few patients required blood or platelet concentrate transfusion. Eleven patients died, three due to DIC, one of intracranial haemorrhage and seven due to massive gastric haemorrhage. Rest of the patients recovered completely. Thus we can conclude that recent outbreak in Delhi was of dengue fever with haemorrhage and mortality was very low in patients who came early to the hospital.     

Changes in the hypothalamic nuclei in in experimental allergy

Summary In rabbits subjected to prolonged sensitization and in which the Arthus phenomenon was induced there was a marked reaction of the hypothalamic nuclei. Staining by Gomori's method indicated a cellular swelling, loss of granules, and protoplasmic vacuolization in the supraoptic nucleus. There was a considerable increase in the size of the cross-sectional area of the cells. The same effects were much less well shown in the paraventricular nucleus. These results show that marked signs of increased neurosecretion developed in the animals at the height of the Arthus phenomenon.(Presented by Active Member AMN SSSR V. V. Parin) Translated from Byulleten Éksperimental'noi biologii i Meditsiny, Vol. 55, No. 4, pp. 110–113, April, 1963.