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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。

A missense mutation (p.H1075R) in the ADAR gene has been detected in this DSH family, which is probably one of the pathogenetic molecular bases.

家系发病是由ADAR基因突变所致,其发病的基因型和表型之间的关系有待进一步研究。

ABSTRACT Agenesis of one or more teeth constitutes one of the most common developmental anomalies in man.

牙齿的发育不全是一种人类常见的发育异常,先天缺牙是牙齿发育异常的表现之一,可伴随遗传性的综合征出现,也可能是单独的症状以散发病例或家系遗。。。

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。

Objective To observe the histopathological features of piebaldism by confocal laser scanning microscopy in vivo and to investigate c-kit gene mutations in a family of piebaldism.

目的 报告一例斑驳病家系,运用共聚焦激光扫描显微镜对先证者进行实时在体组织学检查和诊断,并检测该家系患者c-kit基因突变位点。

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。

Farther, the sperm DNA of wild male was extracted from copulated wild female thelycum in three families of the ten.

从其中3个家系的雌性亲虾纳精囊中提取了雄虾精子DNA,微卫星标记显示各家系的子代个体均有一个等位基因与雄性亲虾的基因型相符,且符合孟德尔遗传规律,这为野生中国明对虾雌虾在繁殖季节一对一的繁殖行为提供了遗传学的证据。

The Carraways are something of a clan, and we have a tradition that we're descended from the Dukes of Buccleuch, but the actual founder of my line was my grandfather's brother, who came here in fifty-one, sent a substitute to the Civil War, and started the wholesale hardware business that my father carries on to-day.

姓卡罗威的也可算是个世家,据家平传说我们是布克娄奇公爵①的后裔,但是我们家系的实际创始人却是我祖父的哥哥。他在一八五一年来到这里,买了个替身去参加南北战争,开始做起五金批发生意,也就是我父东今天还在经营的买卖。

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。

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