河北汉族人群D9Sl122／D10S1435／D12ATA63miniSTR基因座四色荧光标记分型体系的构建及遗传多态性研究

短串联重复序列（shorttandemrepeats，STR）由于在人类基因组中分布广泛，并且具有丰富的多态性、高度的稳定性及分型技术简单、快速等优点，目前已成为法医学中最主要的遗传标记。miniSTR基因座分析技术是通过聚合酶链反应（polymerasechainreaction，PCR）引物设计的尽可能靠近重复区域而缩短扩增片段的一种新方法，     

人类短串联重复序列的应用研究

短串联重复序列（Short Tandem Repeat，STR）作为继限制性片段长度多态性之后的第2代遗传标记，自20世纪80年代末，90年代初得到开发利用以来，在检测方法手段及应用领域等都得到了不断的拓展，现已广泛应用于遗传制图、基因定位、遗传病的诊断、群体遗传学的研究、法医学鉴定等，是目前应用最广泛的遗传标记。本文就STR的研究概况和应用作一综述。     

DNA分子标记在实验动物遗传分析中的应用

DNA分子标记技术很多,基本都是建立在RFLP、PCR和重复顺序的基础上的。本文重点介绍了限制性片段长度多态性（RFLP）标记、随机扩增多态性DNA（RAPD）标记、微卫星DNA（STR）标记、DNA指纹（DFP）标记、扩增片段长度多态性（AFLP）标记等几种重要的DNA分子标记技术的定义、结构、分布、组成、保守性、优点及丰富的多态性等。并重点介绍了微卫星DNA（STR）标记在分子遗传监测、遗传多样性分析和遗传血缘关系及个体识别等领域的应用。     

扩增片段长度多态性(AFLP)研究进展

扩增片段长度多态性（AFLP）是一种新的分子标记，被广泛应用于遗传结构、遗传距离测定、个体识别、纯度测定等领域，近年来其研究对象不断扩展，研究方法和检测技术不断改进，其在遗传多样性、种质鉴定、遗传图谱构建、基因定位和标记辅助育种等研究中也得到了广泛的应用。     

人类短串联重复序列(STR)及其研究进展

短串联重复序列（STR）作为第二代遗传标记，广泛的分布于人类基因组中。本文介绍了STR及其分型特点。以及STR应用于遗传制图、法医学鉴定、人类学、群体遗传学、基因诊断、器官移植等方面内容。     

实验用藏猪和巴马小型猪线粒体DNA控制区碱基序列比较

目的：分析比较实验用藏猪和巴马小型猪线粒体DNA控制区D．100p区碱基序列的差异，探讨小型猪的遗传标记。方法：提取59头藏猪和16头巴马小型猪血液基因组DNA，设计特异引物扩增mtDNAD．100p，从凝胶中纯化后直接测序，进行比较。结果：2种小型猪mtDNAD-loop都存在串连重复序列区和非重复序列区（5’端和3’端）；重复序列区处于中间位置，藏猪有2种类型（A型和B型），巴马小型猪只有1种类型（A型）；藏猪D—loop5’端（704bp）发现有20个变异位点，其中有3个主要的转换位点：305，500，691，巴马小型猪未发现多态位点，与藏猪以及其他猪相比，巴马小型猪D．100p5’端在180、404位有2个碱基差异。结论：藏猪mtDNA D-100p区碱基序列存在2种类型（A型和B型）；巴马小型猪mtDNAD—loop区碱基序列多态性较低，有2个遗传标记位点。     

蛲虫核糖体DNA ITS1的PCR扩增及序列分析

目的 扩增人蛲虫（Enterobius vermicularis）核糖体DNA的第一内转录间隔区（ITS1）。方法提取人蛲虫的基因组DNA，PCR扩增rDNA的ITS1及部分5．8S片段，对该片段进行PCR—SSCP分析并测序。结果扩增的片段大小为334bp，包含Enterobius vermicularis全部的ITS-1（303bp）及部分5．8S（31bp）序列，ITS1种内序列一致。结论首次报道人蛲虫的ITS1序列，将为以ITS1作为遗传标记用于蛲虫鉴别诊断、系统发育等研究奠定基础。     

染色体显微切割技术的研究进展及应用（综述）

人类及许多高等动植物的基因序列分析研究，随着高度多态的DNA遗传标记的丰富和应用，取得很大的进步，但基因图中遗传标记分布不均，基因组的遗传图谱和物理图谱分辨率不高，染色体特定区域遗传标记密度不高，无法建立高精度基因图，需要一种新的方法探索新的标记，获得染色体区带特异性的序列标签位点(STS)及表达序列标签(EST)构建克隆连锁群，分阶段有序地完成特异区带全序列分析，     

烟台市铜绿假单胞菌质粒、转座子、整合子遗传标记研究

目的了解烟台市铜绿假单胞菌（Pseudomonas aeruginosa，PAE）质粒、转座子、Ⅰ类整合子遗传标记存在状况。方法采用K-B法测定临床分离的30株铜绿假单胞菌对16种抗菌药物的敏感性，采用聚合酶链反应法（PCR）对其进行质粒遗传标记（traA、traF）、转座子遗传标记（tnpA、tnpU、merA）、Ⅰ类整合子遗传标记（intⅠ）检测。结果30株铜绿假单胞菌对16种抗菌药物均有不同程度的耐药。30株PAE菌merA阳性14株，阳性率46．7％；intⅠ阳性14株，阳性率46．7％。其中merA与intⅠ基因同时阳性11株，单独merA基因阳性3株，单独intⅠ基因阳性3株；共有17株检出merA和／或intⅠ基因。其它均为阴性。结论临床分离的铜绿假单胞菌转座子遗传标记和Ⅰ类整合子遗传标记检出率较高。本组PAE菌没有检出F质粒和RP4质粒的遗传标记。     

运用18个常染色体STR进行同胞关系鉴定的案例分析

短串联重复序列（Short tandem repent，STR）在人类基因组中分布广泛，具有遗传多态性，是目前法医个体识别和亲子鉴定中重要的遗传标记。笔者在1例同胞关系鉴定中．通过对三名同胞个体和一名可疑个体18个常染色体STR基因座的联合检测分型，分析其遗传规律，使鉴定取得明确结果。现报道如下。     

The natural history and the national pre-marital screening program in Saudi Arabia

The genetic disorders are chronic in nature and, therefore, require continuous support and health care. Consequently, the genetic diseases cause formidable economic and psychosocial burdens on the family with negative reflection on the community at large. The genetic diseases are a heterogeneous group that result in varieties of chronic health ailment as a result of defects in the genetic material. The congenital malformations and some genetic defects may result from exposure to radiation, pharmaceutical drugs, the exposure of the mother during pregnancy to certain infectious diseases, such as rubella, toxoplasma or viruses. It may also result as a side effect of chronic diseases, including diabetes, hypertension or varieties of environmental factors, or both. The other group of genetic diseases are transmitted from parents to the offspring through a specific pattern of inheritance exemplified by recessive genetic disorders. This group includes the sickle cell gene, the thalassemias, the hemophilias, inborn errors of metabolism and red cell enzymopathies. The main etiological factors of genetic diseases and congenital malformations are 1) Genetic defects which are transmitted to offspring through carriers of affected parents. 2) Mutations in the genetic materials due to spontaneous mutations, exposure of the mother during pregnancy to infectious diseases, such as rubella and toxoplasma, receiving certain teratogenic drugs during pregnancy, exposure of the mother to ionizing radiation during pregnancy such as x-ray and chronic diseases of the mother, such as diabetes mellitus. 3) Others such as difficult labor or injury to the baby, during or after labor. This paper reviews the natural history of common blood genetic disorders and the means of prevention and control, focusing on pre-marital screening as a means of prevention.     

Medical genetics: 3. An approach to the adult with a genetic disorder

MANY GENETIC DISORDERS DO NOT MANIFEST themselves until the adult years. Such disorders often involve multiple genetic factors interacting with multiple environmental factors, over time, to produce a phenotype. This paper reviews the modes of inheritance of genetic disorders and describes the types of genetic testing that are currently available. It offers clues that should lead physicians to suspect that an adult patient might have a genetic disorder and raises issues that should be considered in counselling the patient about genetic testing. Resources for patients and their family physicians are also discussed.     

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record

Objective Clinicians’ ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need to develop systems to effectively display genetic information in EHRs and augment clinical decision support (CDS).Materials and Methods The National Institutes of Health (NIH)-sponsored Clinical Sequencing Exploratory Research and Electronic Medical Records & Genomics EHR Working Groups conducted a multiphase, iterative process involving working group discussions and 2 surveys in order to determine how genetic and genomic information are currently displayed in EHRs, envision optimal uses for different types of genetic or genomic information, and prioritize areas for EHR improvement.Results There is substantial heterogeneity in how genetic information enters and is documented in EHR systems. Most institutions indicated that genetic information was displayed in multiple locations in their EHRs. Among surveyed institutions, genetic information enters the EHR through multiple laboratory sources and through clinician notes. For laboratory-based data, the source laboratory was the main determinant of the location of genetic information in the EHR. The highest priority recommendation was to address the need to implement CDS mechanisms and content for decision support for medically actionable genetic information.Conclusion Heterogeneity of genetic information flow and importance of source laboratory, rather than clinical content, as a determinant of information representation are major barriers to using genetic information optimally in patient care. Greater effort to develop interoperable systems to receive and consistently display genetic and/or genomic information and alert clinicians to genomic-dependent improvements to clinical care is recommended.     

人尿苷二磷酸葡萄糖醛酸转移酶基因多态性与相关疾病易感性

尿苷二磷酸葡萄糖醛酸转移酶（UGT）是体内重要的药物代谢Ⅱ相酶，具有明显的基因多态性。评价基因多态性对疾病易感性影响的重要性，建立基因多态性数据库并进行致病基因 疾病易感性的种群研究具有深远意义。本文拟就人UGT基因多态性及相关疾病易感性进行简述。     

中国目前的遗传咨询

In1975,the American Society of Human Genetics adopted the following definition of genetic counseling:ge-netic counseling is a communication process which deals with the human problems associated with the occurrence orrisk of occurrence of a genetic disord…     

延安市211例遗传咨询者的细胞遗传学分析

目的探讨遗传病与染色体异常的关系。方法采用外周血淋巴细胞培养，常规法制备染色体标本，G显带，镜下核型分析。结果分析延安市遗传咨询者211例的外周血染色体，发现异常核型19例，占9．00％。其中，常染色体异常14例，性染色体异常5例。结论染色体异常是导致遗传病的重要原因之一，对遗传咨询者进行染色体检查，不仅对优生优育、提高遗传素质有重要意义，而且为遗传病防治提供重要依据。     

基因性儿童癫痫的外科治疗

癫痫是最常见的儿童神经系统疾病,基因异常是儿童癫痫最多见的病因之一。近年来国内外基因性儿童癫痫的外科治疗均取得了快速进步。该文就基因性儿童癫痫的手术适应证、基因异常与癫痫的关系评估及手术方式选择、切除性手术方式、神经调控手术方式及其他手术方式进行总结和述评。基因异常不会成为基因性儿童癫痫外科治疗的禁忌证,只是癫痫术前评估中一个重要的考虑因素,切除性手术和迷走神经刺激术是当前基因性儿童癫痫最常用的手术方案。正确选择的难治性基因性儿童癫痫患者行手术治疗效果良好。     

遗传病及非遗传性先天残疾控制措施Ⅱ——Ⅳ.遗传病高危家庭监护

目前遗传病尚无法根治,故采取预防措施阻断遗传病致病基因的传递是降低遗传病发病率的有效途径。遗传病种类繁多,遗传方式多样,有的遗传病危害严重,患者亲属携带致病基因者多、再发风险高,作者将这些遗传病患者所在的家庭称作高危家庭。高危家庭监护就是对这些家庭中的成员进行遗传分析,估计再发风险,必做要的化验与检查,提出处理意见,指导婚姻与生育。     

豚鼠遗传检测方法研究进展

豚鼠作为一种常用的实验动物,广泛应用于生物医学研究中的各个领域,其遗传质量的稳定性直接影响着它的发展和应用。遗传检测目的是为了证实各品系动物应具有的遗传特性,检查是否发生遗传污染和遗传突变等,确保被检对象符合该品系的要求。生化标记和分子标记技术的出现,为实验豚鼠基因纯合度、遗传类型检测、遗传质量监测提供了更为简便可靠的研究手段。本文就生化标记、细胞学标记和分子标记在豚鼠多样性研究中的应用及研究进展进行了论述,为豚鼠遗传检测方法的建立提供帮助。     

四川麦冬自然居群间RAPD分析

目的　研究百合科植物麦冬 Ophiopogon japonicus及其同属植物沿阶草 O.bodinieri四川所产 10个居群间的遗传多样性。方法　以 4 0个 10碱基随机引物进行 RAPD分析。结果　 11个有效引物扩增获得 5 15条 DNA带 ,通过聚类分析 ,构建 DNA分子系统树图 ,确定了麦冬及沿阶草的居群及种间亲缘关系。结论　 (1)供试样品间遗传差异明显。具有丰富的遗传多样性 ,但是其遗传差异与地理分布联系并不紧密 ,而与形态差异联系较紧 ;(2 )麦冬与沿阶草之间存在着较大的遗传差异 ,亲缘关系较远