家系的

A missense mutation (2879 A→G) in ADAR gene is detected in the DSH family, which is probably one of the molecular bases of the pathogenesis of the disease.

DSH家系中患者ADAR基因存在错义突变(2879 A→G)，这可能是导致DSH发病的分子机制之一。

Five patients were alive, they appeared progressive muscular atony and atrophy, especially in shoulder and pelvic girdle, with normal serum creatine kinase and troponin T examination; some patients appeared heart enlargement, arrhythmia, and heart failure.

结论该家系符合常染色体显性遗传的特点；根据患者临床及病理特点，诊断为肢带型肌营养不良症伴心肌损害，以肢带型肌营养不良症ⅠB型可能性大；进一步明确其基因分型需行分子遗传学检查。

The results showed that the hereditary mode of rolling tongue or pointed tongue is the dominant heredity of single gene of autosome,and the positive type of them is the dominant character;Twisting tongue is the recessive heredity of single gene of autosome,while the positive type is the recessive character.

采用Penrose先证者同胞法和分离分析方法对72个家系资料的分析表明：卷舌、尖舌均为常染色体单基因显性遗传，阳性为显性性状；翻舌为常染色体单基因隐性遗传，阳性为隐性性状。

In addition, the clinical data of 96 FAP cases clinically diagnosed between 1985 and 2000 were analyzed retrospectively, which included clinical (enteral and apenteric manifestations, methods of diagnosis and screening, surgical modality and follow-up findings).

我们认为结肠镜是FAP最可靠、最有效的临床诊断方法并在家系成员筛选中可发挥重要作用；CHRPE是具有高度特异性和敏感性的辅助诊断方式，可作为对未成年家系成员筛选的首选方法；FAP常伴发上消化道病变包括胃窦部增生性息肉，十二指肠腺瘤发病率高，但癌变少见；腹腔硬纤维瘤是FAP的严重结肠外病变，术后复发率高；FAP术后如直肠粘膜有残留，其腺瘤复发及癌变危险性高，应定期结肠镜随访。

Objective: To establish immortal lymphoblastoid cell lines of hereditary gingival fibromatosis and analyse the feasibility of these cell lines used as the specimens in research of cytogenetics.

目的：建立遗传性牙龈纤维瘤病家系外周血永生化淋巴细胞系，以永久保存现有患病家系特有的基因组资源，并探讨将其作为HGF发病机理研究的生物材料的可行性和可靠性。

In this study, Mono-nuclear cells containing hematopoietic stem/progenitor cells were isolated from umbilical cord blood of normal full-term deliveries, healthy adult and heterocellular HPFH patient bone marrow by density gradient centrifugation. After simple purification and expansion in vitro, MNCs were induced to erythroid cell differentiation using different culture systems and cytokines including Epo, IL-3 and GM-CSF.

本研究首先利用密度梯度离心方法，从正常成人和异细胞型遗传性胎儿血红蛋白持续存在综合症家系患者的骨髓组织、健康足月正常分娩胎儿脐带血中分离得到了含有造血干／祖细胞的单个核细胞(Mono-Nuclear Cell，MNC)，进行初步纯化及体外扩增后，组合使用Epo、IL-3、GM-CSF等细胞因子，将造血干／祖细胞向红系方向进行诱导培养。

Our research utilized two cell lines carrying a bisatellite microchromosome originated from two normal phenotypic families found by Professor Jiahui Xia to make the BM become a new vector for gene therapy. The research will finally establish a novel vector that can be steadily transmitted, has enough capacity to carry foreign genes, has no harm to human being, has no immunogenecity and is easy to transfer. This research can provide brand new vector tool for gene therapy of human hereditary diseases and tumors.

本研究利用夏家辉教授发现的2个带有双随体小染色体而表型正常的家系所建立的细胞株作为研究材料，用BM作为基因治疗新载体，以求最终建立一种能稳定遗传、携带外源基因容量足够大、对人体无害、无免疫原性和易于基因转移的新型载体，为人类遗传病和肿瘤的基因治疗提供崭新的载体工具。

In this study, genetic analyses were conducted to determine the genetic basis in an elite resistant inbred line Siyi with complete resistance to maize dwarf mosaic. A new genetic model, two dominant complementary genes conditioning the resistance, were found by Mendelian genetic analysis based on parents, F1, F2 and backcrosses in three successive years' field trails. The two genes were further mapped near the centromere of chromosome 3 and 6, respectively by tightly linked microsatellite markers using 242 plants from F2 generation. The resistance gene on chromosome 3 is 1.0 cM apart from the flanking markers phi053 and umc1527, respectively. Whereas the linkage distance between two flanking markers bnlg1600 and phi075 and resistance gene on chromosome 6 was 1.0 and 4.0 cM, respectively. Genotypic analysis of the plants from testcross and F3 populations supported the new genetic manners.

课题组通过连续三年的抗病鉴定，在国内种质资源中筛选出一份综合农艺性状优良、配合力较高的自交系四一，三年的表型遗传研究和两年的分子标记工作，发现四一中的玉米矮花叶病抗性是由两对显性互补基因控制的，进而利用F2作图群体，把发现的两个基因定位在第三和第六染色体的着丝点附近，并获得了双侧紧密连锁的分子标记连锁图谱，其中第三染色体上的分子标记UMC1527和phi053从抗病基因双侧逼近1 cM，而第六染色体上的分子标记phi075、bnlg1600从抗病基因双侧分别逼近4 cM和1 cM；利用B2群体、F2：3家系、BC3F1群体和带有第三、第六染色体抗病基因以及两个抗病基因的近等基因系，进一步证实了四一中成株期抗性是由两个显性互补基因控制的。

Results Left atrial and right ventricular dilations were found in 4 patients of one family with 12 members,and Left atrial dilation alone in 5 patients of the other family with 9 members.

结果 第一家系12口人的UCG检查表现左房、右室增大者4例。第二家系9口人的UCG检查表现单纯左房增大者5例。

Objective To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington diseasefamily, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD.

目的 对青少年发病的亨廷顿舞蹈病家系进行致病IT15基因早期诊断分析，为家系成员提供遗传咨询，并为后续的HD发病机制及实验治疗研究提供依据。

However, as the name（read－only memory）implies, CD disks cannot be written onorchanged in any way.

然而，正如其名字所指出的那样，CD盘不能写，也不能用任何方式改变其内容。

Galvanizes steel pallet is mainly export which suits standard packing of European Union, the North America. galvanizes steel pallet is suitable to heavy rack. Pallet surface can design plate type, corrugated and the gap form, satisfies the different requirements.

镀锌钢托盘多用于出口，替代木托盘，免薰蒸，符合欧盟、北美各国对出口货物包装材料的法令要求；喷涂钢托盘适用于重载上货架之用，托盘表面根据需要制作成平板状、波纹状及间隔形式，满足不同的使用要求。