Goldenhar 综合征家系的临床表型和遗传学分析

目的分析1组Goldenhar综合征家系的临床表现及遗传学特征。方法我们随访到1组4代33人的Goldenhar综合征家系，对目前存活的29人进行了临床表型和遗传学的初步分析。结果家系内有Goldenhaar综合征患者5人．临床表现具高度多样性，累及眼、耳、脊柱、颜面、口腔等多个器官和系统的发育不良，在遗传方式上属于常染色体显性遗传。从细胞遗传学水平对家系中成员进行染色体检查，未发现核型异常。结论该Goldenhar综合征家系属常染色体显性遗传，染色体检查未发现核型异常。     

有机锗对环磷酸胺抗移植肝癌作用的影响

用有机锗（Ge－132）试验治疗荷移植肝癌小鼠。结果：De－132高剂量（12．5mg/次）治疗组的抑癌率为用31．0％，移植肝癌白细胞（WBC）浸润（＋＋＋）占72．7％、血清超氧化物歧化酶（SOD）活性为121Nu／ml，而生理盐水对照治疗组相应的后两项指标分别为用36．4％及81Nu／ml，两组比较有显著性差异（P＜0．05）；环磷酰胺（CTX）治疗组的抑癌率为37.0％，癌体WBC浸润（＋＋＋）为27.3％，血清SOD活性为102Nu／ml；ge-132高剂量与CTX2联合治疗组的抑癌率为45．0％，癌体WBC浸润（＋＋＋）为54．5％，血清SOD活性为142Nu/ml，两组比较，后二项指标有显著性差异（P＜0．05）。由此提示Ge-132高剂量能明显增强荷移植肝癌小鼠的细胞免疫及血清SOD活性，并有一定的抗移植肝癌作用。     

Rb1基因第16内含子内21个碱基缺失1例

目地研究双眼视网膜母细胞瘤患者Rb1基因杂合性突变的分子生物学特性。方法应用PCR—SSCP直接测序技术检测双眼视网膜母细胞瘤患者白细胞DNA中Rb1基因杂合性突变。结果50例证实有Rb1基因杂合性突变的病例中有1例发生于第16内含子中可以用3种定位方法解释、具有相同序列的21个碱基缺失。结论这种极为少见的Rb1基因突变方式可能是由于破坏了正常拼接位点的结构而激活了“隐蔽拼接位点”，导致异常的Rb1基因mRNA产生或由此影响整个拼接过程。     

HPLC法测定盐酸美沙酮含量

本文采用高效液相色谱法，以盐酸布比卡因为内标，检测波长220nm，在Symmetry-C18柱上，以己腈-磷酸二氢钾（pH2．5）（3862，V／V）为流动相，测定盐酸美沙酮及其口服液的含量。方法平均回收率为100．17％，日内及日间的RSD均＜1％。方法简便、快速、准确。     

Localised endosteal bone lysis in relation to the femoral components of cemented total hip arthroplasties

Four cases are described of localised endosteal bone lysis in the femur occurring in association with cemented femoral components that were not obviously 'loose' radiologically. In each, the area of lysis was shown at operation to be related directly to a region in which there was a local defect in the cement mantle surrounding the stem. Via the space between the stem and cement, such defects provide a route through which the contents of the joint cavity may reach the endosteal surface of the femur, subsequently leading to localised bone lysis, and later to frank loosening.     

血脂调节剂的研究——Ⅰ.HMG-CoA还原酶抑制剂M-8614A及MH-2688B产生菌的筛选

利用酶联免疫吸附测定法,酶标β-羟基β-甲基-戊二酸单酰铺酶A(HMG-CoA)还原酶抑制剂Compactin抗体,定向筛选血脂调节剂。从青霉M-8614菌株发酵液中分离到M-8614A。该物质理化性质及波谱解释表明与Mevastatin为同一物质。 M-8614菌株用亚硝酸盐等诱变剂处理,从诱变株MH-2688发酵液中分离到MH-2688B。该物质理化性质及波谱解释表明与Lovastatin为同一物质。     

Apolipoprotein E—associated risk for Alzheimer's disease in the African-American population is genotype dependent

As a part of our ongoing study on Alzheimer's disease (AD) in elderly African Americans, we obtained clinical assessment and apolipoprotein E (ApoE) genotype data on 288 individuals (including 60 with AD). The ApoE σ4 allele frequency was significantly increased in AD patients compared with controls. The age-adjusted odds ratio (OR) for AD in σ4 homozygotes was 4.83 (95% confidence interval [CI], 1.71–13.64) compared with the σ3/σ3 genotype, but the OR for AD with the σ3/σ4 genotype did not reach significance (1.20; 95% CI, 0.58–2.45). These findings suggest that the association between ApoE σ4 and AD is weaker in African Americans than in whites.     

Analysis of clonality by X chromosome inactivation in uterine cervix cancer.

The determination of a unicellular or a multicellular origin of a tumor is an important due for understanding its etiology. To investigate this issue, we performed clonality assay of cervix cancer using polymerase chain reaction based on highly polymorphic locus of the androgen receptor gene, in which methylation of DNA correlates with inactivation of X chromosome. DNA samples were obtained from formalin-fixed, paraffin-embedded tissue of 20 invasive epidermoid carcinomas and 10 carcinoma in situ. Seven of ten carcinoma in situ, heterozygous for the androgen receptor locus, were monoclonal pattern. Among twenty invasive epidermoid carcinomas, eighteen of which showed heterozygous, twelve were monoclonal pattern and six were polyclonal pattern. We conclude that carcinoma in situ arises from a single cell. In invasive epidermoid carcinoma, most cases were monoclonal, although some cases were polyclonal. These suggest that invasive carcinoma of the cervix does not always arise from a single cell, but may arise from several cells with different mechanisms.     

A study of the relationship between ambient lead and blood lead among lead battery workers

 Objective: To examine the relationship between ambient lead levels and blood lead levels and to explore the modifiers of the relationship between ambient lead and blood lead. Method: A cross-sectional study was conducted in two lead battery factories. Blood lead level and ambient lead concentration were measured for each participant concurrently. A structured questionnaire was administered to collect sociodemographic characteristics and occupational history. Design: Biological and personal environmental measurements of 219 lead-exposed workers were analyzed by both simple and multiple linear regression. A regression model was selected for interpretation. Results: A high correlation (r=0.62) between ambient lead (PbA) and blood lead (PbB) was observed. In addition, numerous factors, including age, sex, alcohol consumption, personal hygiene practice and type of lead exposure, were also found to influence blood lead levels. Although PbB was highly correlated with PbA, blood lead level may not be effectively lowered by reducing ambient lead level. Based on the regression coefficients, improvement of hygienic practice was more effective at lowering PbB than reducing ambient lead level. Good hygienic practice may be the preferential way to reduce lead exposure in current conditions. Conclusion: Education of correct work practice may be more important than engineering control in the developing countries to lower blood lead levels in lead battery factories. Received: 28 May 1996/Accepted: 30 August 1996