载脂蛋白E基因多态性与颈动脉粥样硬化的相关性研究

目的:研究载脂蛋白E(ApoE)基因多态性与颈动脉粥样硬化的相关性。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对25例B超检测颈动脉内中膜厚度(IMT)增厚患者(增厚组)和25例同期健康体检者(对照组)的ApoE基因多态性进行分析。结果:IMT增厚组ε3等位基因频率较对照组降低(P<0.05),ε4等位基因频率较对照组升高(P<0.01)。IMT增厚组的ε3/ε4基因型频率显著要高于对照组。对以上两组再按ApoE基因型分别分为3组:ApoE2(ε2/2 ε2/3),ApoE3(ε3/3)和ApoE4(ε3/4 ε4/4)。结果显示颈动脉IMT在不同基因型间差异显著,ApoE4组显著增加,颈动脉多发斑块率在此组也显著增加。结论:ApoE基因多态性与颈动脉粥样硬化形成有相关性,ε4基因是颈动脉粥样硬化形成的危险因子。     

A solitary plasmacytoma of donor origin arising 14 years after kidney allotransplantation

Summary Allotransplantation of solid organs transfers passenger leucocytes which may give rise to a state of persistent microchimaerism. In this report we describe the case of a patient who developed a solitary plasmacytoma in a transplanted kidney more than 10 years after allografting. The diagnosis was established on the basis of the presence of a monoclonal IgG kappa peak in the serum, and light chain proteinuria, the plasmacytoid features of tumour cells including cell surface expression of IgG, kappa light chains, CD20, CD38 and CD56, the absence of lytic bone lesions and a normal bone marrow biopsy, and the disappearance of the monoclonal IgG peak after graft nephrectomy. A donor origin of the tumour was established by HLA DNA typing of tumour, tumour-free kidney tissue, and peripheral blood leucocytes, respectively.     

湖南省乙肝病毒基因型分布及临床意义

目的 :研究湖南省乙肝病毒 (HBV)基因型分布及临床意义。方法 :选择湖南省HBVDNA阳性慢性乙肝病人共 185例 ,其中病毒携带者 (ASC) 4 2例 ,慢性轻、中度肝炎 (CH) 38例 ,重型肝炎 (FHF) 80例 (伴有肝硬化者 4 9例 ) ,肝细胞癌 (HCC) 2 5例 ,采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)方法检测HBV基因型。结果 :基因型B136例 (73.5 % ) ,基因型C 4 9例 (2 6 .5 % )。基因型B在FHF中占绝对优势 (83.7% ) ,其次为HCC(76 % ) ,与ASC(5 7.1% )比较 ,差异有显著性 (P <0 .0 1)。与基因型B相比 ,基因型C在垂直传播感染者中多见 (38.8%与 13.2 % ,P <0 .0 0 1) ;HBeAg阳性率明显增高 (5 7.1%与 30 .9% ,P <0 .0 0 1) ;抗HBe阳性率明显下降 (36 .9%与 6 6 .2 % ,P <0 .0 0 1)。与基因型C相比 ,基因型B感染者ALT水平明显增高 (2 6 4 .5± 2 5 6 .5与 10 0± 12 0 .6 ,P <0 .0 0 1)。结论 :湖南省存在乙肝病毒基因型B和基因型C ;基因型B为优势基因型并与肝脏疾病活动性相关 ,基因型C与母婴垂直传播感染有关     

肝豆状核变性RFLP连锁分析的建立及症状前诊断和杂合子检出的研究

ＲＢ１基因位于ＤＩ３ｑ１４－２１，与Ｗｉｌｓｏｎ氏病基因紧密连锁，遗传距离为４．４ｃｍ（ｃｅｎｔｉｍｏｒｇａｎ），其３＇端第１７号内含子中ｐ６８ＲＳ２．０标记的等位片段与白种人相同，但基因频率存在差异，杂合子频率为４３％。应用该标记对１１个ＷＤ家系进行ＲＦＬＰ连锁分析，检出３名症状前患者，１１名杂合子及３名正常纯合子，证实ｐ６８ＲＳ２．０标记可用于Ｗｉｌｓｏｎ氏病的症状前诊断及杂合子筛选。     

Increased frequency of HLA-DRwl4b(w6)-associated RFLP in Greenlanders of Eskimo origin

HLA-DR typing by the restriction fragment length polymorphism (RFLP) technique of 42 Greenlanders living in northern Jutland, Denmark, revealed a phenotype frequency of 33.3% for HLA-DRw14b(w6), which is significantly different from the frequency of 0.0% observed among 98 Danes of Caucasian origin. When comparing the two populations, the frequency of other HLA-DRB allogenotypes show insignificant variations. Since HLA-DRw14b(w6) is carried by approximately one-third of the Greenlanders tested, this allogenotype may serve as a useful marker in further anthropological and immunogenetic studies.     

Whole CanA Gene Amplification of Helicobacter pylori and Its Fingerprinting by Restriction Fragment Length Polymorphism

To set up a method of amplification for the whole CagA gene of Helicobacter pylori and its fingerprinting by restriction fragment length polymorphism(RFLP),nested PCR was employed in combination with TD-PCR to amplify the gene and EcoRI and Hind Ⅲ were used to generate the RFLP fingerprinting.Target DNA fragments from 13 of 20 samples were successfully amplified and the relevant RFLP fingerprintings were obtained.It is concluded that the method can be used to amplify the whole CagA gene and CagA gene has apparent diversity of RFLP profile.     

D16S80和D16S125两位点RFLP在多囊肾症状前诊断中的应用

给出了用“混合型”雅可比级数的泰勒平均逼近黎普希兹函数类的点态估计。     

巨核细胞白血病细胞系HLA-Ⅱ等位基因型的研究

目的 研究巨核细胞(MEG)，白血病细胞系表达人类白细胞抗原ⅡHLA—Ⅱ基因组DNA的等位基因型。提高对该细胞的HLA—Ⅱ基因型的认识。为临床上从分子免疫遗传学水平上探讨巨核细胞白血病发病机理莫定基础。方法 采用分子生物学方法。即：聚合酶链反应—限制性片断长度多态性(PCR—RFLP)技术对MEG白血病细胞系HLA—Ⅱ基因组DNA的等位基因型进行探讨。结果 MEG白血病细胞系的HLA—Ⅱ等位基因型分别是：DRBl：^*1406／^*0410,DQBl：^*0401／^*0401,DPBl：^*0501／^*0501。结论 提高对MEG白血病细胞系HLA—Ⅱ基因型的认识。对今后巨核细胞白血病免疫遗传学的研究具有重要的指导意义。     

Using the polymerase chain reaction to maintain DNA probe inventories in clinical and diagnostic laboratories

Clinical and diagnostic DNA laboratories must maintain a large inventory of DNA probes for use in hybridization studies. The preparation of plasmid DNA and isolation of DNA fragments for use as probes in both expensive and time consuming. We present here a rapid and relatively inexpensive method of producing large amounts of DNA fragments from stocks, using the polymerase chain reaction (PCR). Our experience over the past year using this technique has been very positive and we believe many laboratories could benefit by employing such a labor-saving approach to maintaining DNA probes. The technique uses the bacteriophage M13 DNA sequencing primers to amplify cloned inserts contained in commonly used plasmid vectors. As examples, we illustrate the use of DNA produced in this manner as probes for linkage analysis of the fragile X syndrome and for detection of deletions in the Duchenne muscular dystrophy gene. We have also found that at least two probes can be amplified in the same PCR reaction, allowing the detection of two different restriction fragment length polymorphisms (RFLP) simultaneously. It should be possible for laboratories to devise strategies particular to their individual needs using more than one DNA probe produced in the same PCR reaction to detect RFLP's. Such strategies would need only to consider that the predicted alleles of the multiple polymorphisms do not migrate to the same position during electrophoresis. Stocks of single or multiple probes produced by the PCR could then be maintained for more rapid Southern analyses.