新疆地区4000例遗传咨询患者细胞遗传学分析

目的统计遗传咨询患者染色体异常的类型和发生概率,研究细胞遗传学检查在临床诊断中的应用价值。方法采用常规外周血淋巴细胞培养及染色体制备,G显带,镜下核型分析。结果4000例遗传咨询患者中共检出染色体异常核型540例,检出率为13.50％。其中唐氏综合征92例,占总数的2.30％;特纳综合征22例,占总数的0.55％;平衡易位38例,占总数的0.95％;罗氏易位12例,占总数的0.30％;染色体倒位76例,占总数的1.90％;常染色体多态性变异216例,占总数的5.40％;Y染色体多态性变异70例,占总数的1.75％;另见染色体部分缺失6例,标记染色体3例,衍生染色体2例。结论染色体核型分析结果是临床诊断及优生优育的重要参考依据;进行遗传咨询、产前筛查和产前诊断可有效降低出生缺陷。     

山东省某地区精神分裂症患者6号染色体的基因组扫描研究

目的在6号染色体上寻找与精神分裂症的关联区域，进而定位精神分裂症的致病基因。方法在6号染色体采用问隔10cM（厘摩）遗传距离的20个微卫星遗传标记，分别对山东省潍坊市东部地区119例精神分裂症患者和119名正常对照者的DNA混合样本进行基因组扫描，比较两组每个等位基因峰值比率的差异。结果患者组D6S289和D6S460两个遗传位点上的等位基因频率分别为0．121和0．200，高于对照组（分别为0．046和0．157，P〈0．01），而患者组D6S1610遗传位点的等位基因频率（0．087）低于对照组（0．161，P〈0．01）。结论山东省潍坊市东部地区的精神分裂症患者中存在与6号染色体的关联区域，致病因子（基因或调控因子等）可能位于其中。     

乳腺癌HER2蛋白表达阳性者的基因状态分析

目的探索中国大陆女性乳腺癌HER2蛋白过表达人群中HER2基因状态、蛋白表达与基因扩增的一致性、17号染色体非整体性的发生情况及其意义。方法采用PathVysion^TM探针试剂盒,以荧光原位杂交（FISH）方法,分析经免疫组织化学（IHC）方法（HercepTest^TM试剂盒）确认的120例HER2蛋白表达阳性（IHC2＋者42例,IHC3＋者78例）的乳腺癌石蜡切片标本的HER2基因状态和17号染色体非整体性的发生率。结果HER2表达IHC2＋的标本中,基因扩增率76．19％（32／42）,其中低度扩增（比值2～4）26．19％（11／42）,中度扩增（比值4—10）41．62％（20／42）,高度扩增（比值〉10）2．38％（1／42）;IHC3＋的标本中,基因扩增率91．03％（71／78）,其中低度扩增11．54％（9／78）,中度扩增61．54％（48／78）,高度扩增17．95％（14／78）。全部病例中具有17号染色体非整体性者69．17％（83／120）,包括亚二体性（17号染色体平均数≤1．75）11．67％（14／120）、低多体性（17号染色体平均数2．26～3．75）43．33％（52／120）和高多体性（17号染色体平均数≥3.76）14．17％（17／120）。IHC2＋病例中17号染色体非整体性59．52％（25／42）,包括亚二体性7．14％（3／42）、低多体性42．86％（18／42）和高多体性9．52％（4／42）;IHC3＋病例中17号染色体非整体性74．36％（58／78）,包括亚二体性14．10％（11／78）、低多体性43．59％（34／78）和高多体性16．67％（13／78）。IHC2＋者FISH阳性以HER2基因中、低度扩增为主,而IHC3＋者则呈中、高度基因扩增的趋势,两者差异有统计学意义（P=0．0003）。IHC3＋中,7例FISH阴性中6例有17号染色体非整体性;IHC2＋中,10例FISH阴性中5例有17号染色体非整体性。结论在本组中国大陆女性乳腺癌人群中,IHC3＋与FISH阳性的一致性较高;IHC2＋者FISH阳性率高于国外研究者的数据;HER2蛋白阳性乳腺癌中17号染色体非整体性发生比例较高;IHC2＋和3＋者都具亚二体性、低多体性和高多体性特征,且两者均以低多体性为常见;IHC2＋者的HER2基因扩增多为中、低度扩增,而IHC3＋中FISH阳性者则以高比值者居多。IHC3＋而FISH阴性的主要原因为17号染色体非整体性。     

超声诊断胎儿脉络丛囊肿的临床意义探讨

目的 探讨胎儿脉络丛囊肿对妊娠结局及临床预后的影响,为产前诊断提供更大帮助.方法 分析2011年1月至2014年3月在我院确诊的220例脉络丛囊肿胎儿的超声表现及相关临床资料.结果 220例脉络丛囊肿胎儿中,双侧77例,占35％;单侧143例,占65％.胎儿孤立性脉络丛囊肿199例随访未发现异常;胎儿复杂性脉络丛囊肿21例,其中6例染色体核型异常,5例为18-三体,1例为21-三体.结论 临床应对超声诊断复杂性脉络丛囊肿者在孕中期行胎儿染色体核型检查;对孤立性脉络丛囊肿可不干预.     

膀胱肿瘤病人血淋巴细胞染色体畸变和脆性位点表达

通过对１３例膀胱移行上皮癌病人和１２例正常对照健康志愿者的外周血淋巴细胞染色体畸变及脆性位点的观察，结果提示，膀胱移行上皮癌病人外周血淋巴细胞染色体畸变率，脆性位点表达率显著高于对照组，可以作为诊断膀胱移行上皮癌和监测肿瘤复发的依据之一，但与肿瘤恶性程度，肿瘤浸润浓度无明显关系。     

血清抗果蝇唾腺染色体抗体和系统性红斑狼疮

用间接免疫荧光法检测血清抗果蝇唾腺染色体抗体(AchrA)。42名正常人和109例各种风湿性疾病患者均为阴性;43例系统性红斑狼疮(SLE)患者中,AchrA阳性者占19例(44％)。AchrA阳性组的病程比阴性组短,关节炎/关节痛、光过敏、肾小球肾炎和贫血的发生率高。提示AchrA对SLE有高度特异性及中度敏感性,并与病情的活动性有关。     

Chromosome analysis of lymphocytes from radiation workers in tritium-applying industry

Objectives : The frequency of chromosomal aberrations (CA) and micronuclei (MN) in peripheral blood lymphocytes was compared in two groups of persons occupationally exposed to tritium either through the use of luminous paints or in the weapons industry, with the aim of finding a correlation between the CA and MN assays, the extent of radiation hazard, and the duration of occupational exposure to chemical forms of tritium and the ability of the latter to induce hazards in human lymphocytes. Methods : CA analysis and the cytochalasin B micronucleus test were performed. Urinary tritium in both groups was measured using a liquid scintillation method. For purposes of comparison, 2 control groups (40 persons) were examined; 24 exposed individuals were matched to their controls according to age, sex, and smoking habits. Results: Values recorded for the frequency of CA in the group of workers handling tritium in luminous dial painting were 0.015 ± 0.014 dicentrics/cell, 0.023 ± 0.017 total unstable CA/cell, and 0.035 ± 0.019 MN/binucleated cell. Urinary levels of tritium in this group of employees ranged from 1.35 to 9.43 MBq/l. As compared with their matched controls, in these workers the differences in the yield of CA as well as in MN were statistically highly significant (P<0.005 and P<0.003, respectively). The same parameters analyzed in workers employed in the armament industry gave values of 0.001 ± 0.003 dicentrics/cell, 0.010 ± 0.008 total unstable CA/cell, and 0.021 ± 0.029 MN/binucleated cell. No detectable concentration of urinary tritium was found. As compared with their matched controls, in these workers the differences were also statistically significant (P<0.027 and P<0.012, respectively). The yield of CA, particularly the yield of dicentrics, was significantly higher (P<0.005) in the group of luminous dial painters as compared with the weapons industry workers. The difference found in the yield of MN between the two groups of workers was also statistically significant (P<0.084). Intercontrol differences in the yields of spontaneous CA as well as in MN were insignificant (P<0.683 and P<0.735, respectively). The results are discussed with respect to individual variations in the response to low doses of ionizing radiation, disorders in the handling of radionuclides, the duration of occupational exposure, and the chemical properties of the radionuclides used. Conclusion : Tritium in the chemical form of luminous paint is a more powerful clastogenic agent than tritium gas. Statistical analysis demonstrated that lymphocyte effects are due to the concentration of tritium in urine rather than to the duration of occupational exposure. Since the radiation hazard measured by the MN assay did not differ from that determined by the CA assay, the MN test can be recommended as a rapid assay for screening purposes in cases of occupational exposure to low radiation doses. Received: 20 November 1996 / Accepted: 1 August 1997     

咖啡因诱发人类染色体脆性部位的观察

观察了咖啡因对14名个体染色体脆性部位的影响。结果表明咖啡因可显著地提高染色体结构畸变率和染色体脆性部位的表达。对有关的问题进行了论讨。     

15号染色体长臂远端三体性

本文报道15导染色体长臂远端三体性1例核型为46,XY,-4,der4,(t4;15)(q35;q22)mat。复习现有文献后查见,这种不平衡易位主要由女性平衡易位携带者传递给后代;家族中出现一名不平衡易位患儿后,再发的风险较大。     

单纯性圆锥动脉干畸形22q11.2微缺失发生率及临床表型研究

目的 探讨单纯性圆锥动脉干畸形(CTD)染色体22q11.2微缺失发生率及临床表型分析.方法 应用多重连接探针扩增法(MLPA)对77例0～10岁单纯性CTD患儿进行染色体22q11.2微缺失筛查,并对阳性样本进行荧光原位杂交(FISH)验证.采用Fisher精度检验,P＜0.05有统计学意义.结果 用MLPA对77例单纯性CTD患儿进行了22号染色体微缺失筛查,其中55例法乐四联症(TOF),4例肺动脉闭锁伴室间隔缺损(PA-VSD),8例右室双出口(DORV),10例大动脉转位(TGA).6例(7.8%)患儿存在染色体22q 11.2微缺失,其中4例为TOF,1例为PA-VSD,1例为DORV;10例TGA患儿中均未发现22q11.2缺失.结论 单纯性CTD染色体22q 11.2微缺失发生率约为7.8%.单纯性CTD患儿中,PA-VSD,DORV及TOF比TGA更易发生染色体22q11.2微缺失.应加强对单纯性CTD患儿的遗传筛查及咨询.