性染色体数目异常疾病诊断技术研究进展

性染色体数目异常疾病是一类严重困扰人类生活的综合征,患者多能生存,但常有性腺发育不全、多发畸形、不育等异常表现。该病无法治愈,经激素替代治疗等干预措施可有效缓解症状,但早期确诊严重依赖于相关临床诊断技术的发展。该文拟就现今常见检测性染色体数目异常技术的发展作一综述,比较各技术优缺点及评价其在临床诊断中的应用价值,以方便检验工作者科学合理地采用相关技术,为临床提供更为准确可靠的实验室依据,推进对该类疾病的诊治与研究。国家自然科学基金面上项目(81572084);;厦门市科技重大专项(3502Z20171006

Study on Free and Complex HBV DNA in Patients with Hepatitis B

HBV是导致肝硬化和肝癌的主要因素。本文首先以羊抗人IgM、IgG、IgA和兔抗HBsAg多克隆抗体包被酶联反应板，分别捕捉乙肝患者血清中相应Ig复合的HBV(Dane)颗粒和游离Dane颗粒，再利用TaqMan探针荧光定理PCR技术对被捕捉的病毒DNA进行定量分析，从而建立了分别检测三类Ig复合HBVDNA和游离HBVDNA的免疫捕捉法定量PCR技术。通过阻断试验、中和试验、替代试验及对PCR扩增产物的核酸序列分析等试验证明，该技术特异性好、灵敏度高和重复性好。采用该技术对118例慢性乙型肝炎患者血清标本进行检测，发现血清中游离HBVDNA含量明显高于三类Ig复合HBVDNA，说明其HBVD...Hepatitis B virus (HBV) is a major problem and a common cause of cirrhosis and hepatocellular carcinoma. In the present study, we developed immuno-capture quantitative PCR to detect three types of Ig-complexed HBV DNA and free HBV DNA. For this purpose, we used goat antihuman μ, γ or α chain and rabbit anti HBsAg polyclone antibodies to capture IgM-, IgG- or IgA- bound HBV and free HBV, respective...学位：理学博士院系专业：生命科学学院生物学系_动物学学号：B20002600

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雄激素不敏感综合征（AIS）是临床上较为常见的男性假两性畸形，属于性发育障碍疾病（DSD）的一种。患者的染色体核型为46，XY，目前认为是一种伴X连锁隐性遗传性疾病，患者可表现为一系列雄激素抵抗性临床症状，从无生育能力但外貌正常的女性到完全正常表型有原发性不育或者无精少精症的男性不等，给患者的身心健康带来严重的影响。福建省自然科学基金杰青项目（2015D012

Immuno capture PCR for HBVDNA/Ig-two-component-determined circulating immune complexes

目的:建立一种免疫捕捉法PCR技术,研究血清免疫复合物中不同Ig类型抗体结合HBV的情况,并初步探讨其意义。方法:以羊抗人μ、γ、α链的IgG为捕捉抗体,再利用PCR扩增捕捉物中的HBVDNA。结果:成功地建立了检测HBVDNA/IgM、IgG和IgATCIC的免疫捕捉法PCR技术。该技术特异性强、敏感性高、重复性好,可以显著提高HBVDNA的检出率。同时发现,结合HBV的抗体的Ig类型组合有明显差异,三者均阳性最高。结论:说明乙肝患者血清免疫复合物中有较多的病毒颗粒。研究HBVDNA/IgTCIC对乙肝发病机理的深入阐明可能具有重要意义。Objective: To establish an immuno capture PCR for the study of classes of immunoglobulins complexed with HBV and of their significance.Methods:Using goat IgG to human μ、γ、α chain as capture antibodies and prime specific PCR as a detecting method.Results:An immuno capture PCR had been established to detect HBVDNA/Ig TCIC (HBVDNA/IgM TCTC,HBVDNA/IgG TCIC, HBVDNA/IgA TCIC). This method was specific,sensitive and reproducible,by which more patients with positive HBVDNA could be found. It was also characted that there were significantly different positive rates among the types of combinations of IgM,IgG and IgA, in which the group with the three of them was hightest.Conclusion:Conclusion:These findings suggested that more HBV may be hide within circulating immune complexes and the study of HBV DNA /Ig TCIC may play an important role in more understanding of pathogenesis in patients with hepatitis B.国家自然科学基金!3 96 6 0 0 7

Analysis on gene detection results of 3715 cases with thalassemia in Xiamen

目的:调查厦门地区地中海贫血基因的携带率、基因突变类型及其频率分布。方法:对2013年1月~2014年8月在该院住院或门诊治疗的患者及健康体检人员共3 715例进行地中海贫血基因检测,对检测结果进行统计分析。结果:检测出静止型α-地中海贫血200例(5.4%),中间型α-地中海贫血44例(1.2%),标准型α-地中海贫血1 213例(32.6%),β-地中海贫血787例(21.2%),α-合并β-地中海贫血69例(1.8%)。结论:不同就诊对象地中海贫血检出率具有明显差异,血常规是筛查地中海贫血高危孕妇的一个有效手段,但也存在一些缺陷,需引起重视。Objective: To survey the carrying rate,types of gene mutation,and frequency distribution of thalassemia gene in Xiamen.Methods: Thalassemia gene detection was conducted among 3 715 patients treated in the hospital or in outpatient department of the hospital and healthy cases receiving physical examination,the results were analyzed statistically.Results: Among the cases,200 cases( 5.4%) were diagnosed as silent α-thalassemia,44 cases( 1.2%) were diagnosed as intermediate α-thalassemia,1 213 cases( 32.6%)were diagnosed as standard α-thalassemia,787 cases( 21.2%) were diagnosed as β-thalassemia,69 cases( 1.8%) were diagnosed as α-thalassemia combined with β- thalassemia.Conclusion: The detection rates of thalassemia among different objects vary,blood routine screening is an effective means for screening high-risk pregnant women,but there are some defects,which should be paid more attention to

Epidemiological survey and study of gestational diabetes mellitus

目的:调查厦门地区妊娠期糖尿病(gdM)患病率及妊娠结局,研究与gdM发病相关的高危因素。方法:收集2013年6月~2014年3月就诊于厦门市妇幼保健院的2 151例孕妇的一般资料及75 g口服葡萄糖耐量试验(OgTT)结果,并随访其妊娠结局。将调查对象分为对照组和gdM组,分析、比较两组妊娠并发症、高危因素和妊娠结局。结果:厦门地区gdM患病率为15.20%。gdM组羊水过多发生率及剖宫产率明显高于对照组,差异有统计学意义(P0.05)。年龄、孕前体重及孕前体重指数(bMI)与gdM发病率显著相关(P 0.05).Age,progestational weight and progestational body mass index( BMI) were significantly correlated with morbidity of GDM( P < 0.05).Conclusion: The pregnant women with GDM are more likely to have polyhydramnios and cesarean section.Age,progestational weight and progestational BMI are high risk factors of GDM.福建省医药卫生科技创新项目〔2014-CXB-46