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After analysis of the patients family relationship maps,we found that in the two kinds of patients families the higher blood SOD activity was a character inherited in autosome dominant typ...

从家系图分析等看出,这两种患者家系中血SOD升高以常染色体显性遗传方式进行遗传。也讨论了在优生优育遗传咨询中的应用价值。

Methods Study subjects are all Chinese including 16 infants with sporadic congenital deaf-mutism, 39 patients with autosomal recessive hereditary hearing loss, 30 patients with autosomal dominant hereditary hearing loss and 100 normal adults.

收集中国散发先天性聋哑儿童16例,常染色体隐性遗传性聋39例(39个家系),10岁前开始听力下降的常染色体显性遗传性聋30例(30个家系)和健康对照组100例。

Results In this pedigree,there are 13 people showed typical ALS symptoms,8 died of this disease,but most of them present varing period of fasciculation before onset.

结果该家系有6代、237人,其中13人患病,8人死于ALS,具典型ALS症状,但起病前有较长一段时间肌肉纤颤期。PCR-SSCP法检测SOD1基因未发现突变,为非SOD1基因突变的ALS家系。

In one family the diagnosis could not be made because the parents carried homozygote. The rate of diagnosis that could be made was 69%.

可诊断率为100%和50%的家系各6个,1个家系因双亲带型为纯合型而未能诊断,可诊断率为69%。

Huntington's disease known as inherited chronic chorea is an autosomal dominant disorder. After collection of a large HD pedigree from HuBei, the molecular diagnosis of the patients, the pre-symptomatic diagnosis of the persons on risk and the genetic analysis of this pedigree are performed so that the pathogene of this family can be confirmed.

目的:采集湖北省宜昌市秭归县一大Huntington舞蹈病家系,对患者进行基因诊断,对有发病可能性的成员进行预测,同时对该家系进行遗传学分析,验证该家系是否符合Huntington舞蹈病的病因。

At this time, old stirp dies out, its property being divided by the newborn strips.

这时,老的家系消亡了,老家系的财产被新家系分割。

2The involvement of MFT in woman is more than that in man.(3)The patients showed multiple dome-shaped, skin-colored, firm papules on the face. Some patients also present the lesions on the scalp and neck. No lesion showed the malignant tendency.(4) The histologic findings of MFT are cornified cysts and some nests of basaloid epithelial cells.(5)There were variable clinical expressions in different patients of the same family.(6) Some pedigrees were also affected by feckle or symmetrical progressive erythrokeratoderma, which were not found in MFT patients of other origin.

MFT临床分析总结:①MFT遗传方式为常染色体显性遗传;②女性发病多于男性;③中国汉族人MFT的典型皮损特征为面部乳白色半球形或圆锥形丘疹,质地坚实,只有2个家系皮损分别发生于头皮及颈部,均无恶化倾向;④组织病理特征为角质囊肿和由基底样瘤细胞构成的肿瘤岛;④同一家系中不同的患者表现度不同;⑤个别家系可伴发雀斑及进行性对称性红斑角化症,其它家系不伴发其他疾病。

The results showed that the respiration rate of J1Jm (Japan♀×Japan♂) and C1Jm (China♀×Japan♂) increased with increase in water temperature, but significantly decreased at over 18℃. The respiration rate in "Chinese red" and its half-sib families (C1Rh, J7Rh, RjRh) sharply decreased at 21℃, indicating that the "Chinese red" and its half-sib families adopted higher temperature. The changes in NH4-N excretion rate showed a similar tendency to the respiration during the experiment.

结果表明:J1Jm(皱纹盘鲍日本群体♀×日本群体♂)和C1Jm(皱纹盘鲍中国群体♀×日本群体♂)的耗氧率随水温的升高而上升,但超过18℃在21℃下耗氧率明显下降,RwRh与其半同胞家系(C1Rh、J7Rh、RjRh)的耗氧率拐点出现在21℃,说明&中国红&及其半同胞家系更适宜较高温度;各家系排氨率随温度升高的变化趋势与耗氧率基本相同。

The result showed there existed significant differences among families in seedling growth, dry matter accumulation, leaf shape as well as root parameters at high and low nitrogen levels. Remarkable reduction in seedling height, dry matter accumulation, leaf and root parameters were observed under low nitrogen stress, whereas larger proportion of photosynthesis production was allocated into roots to promote nitrogen absorption. Family variation in seeding growth, leaf and root parameters were increased under low nitrogen stress in comparison with high nitrogen level, which would be benefit to discriminate superior L. chinense families with high nitrogen efficiency. Nitrogen efficiency of different L.

结果表明:不同氮素水平下,马褂木苗的生长、干物质积累、叶片和根系等性状皆存在显著的家系遗传差异;低氮胁迫将显著抑制马褂木苗叶片发育和根系生长,影响苗高生长和干物质积累,但低氮素水平下生产的光合产物则较多地分配至地下根系部分以促进对氮素的吸收利用;与高氮处理比较,低氮胁迫加大了苗木生长、叶片和根系参数等家系遗传分化,有利于鉴别高氮效率的马褂木优良家系。

As PTDT does in threshold traits, PTDT is valid not only for different QTL effect level, but also for maker with multiple alleles and multiple tightly linked markers.(2) Under an appropriate selection ratio s (in this study, s is 0.2, 0.4, 0.6, 0.8, respectively), the power of PTDT can be improved and the genotying individuals can be decreased using selective genotyping design. However, the power of PTDT is related with population size and population structure, an appropriate selection ratio can be defined by simulation based on the existing data.(3) Among the three transforming methods, mixed-family selection is the best, full-sib selection has same power to mixed-family selection in many parameter combinations, and Estimated Breeding Value selection is inferior to them.

数量性状QTL定位的模拟研究结果表明:(1)数量性状经有效转化后,PTDT对数量性状QTL定位保持了阈性状QTL定位的稳健与高效,对不同效应大小的QTL(10%,30%,50%)PTDT都是一个有效的分析方法;(2)在多等位基因标记、多标记方面,PTDT的检验功效与阐性状分析时一样高效;(3)在合适的选择率下(本研究的分别为0.2,0.4,0.6,0.8,1.0),选择性基因型测定不仅可以减少基因型测定的数量,而且可以提高PTDT的检验功效,但选择性基因型测定的PTDT检验功效很大程度上与群体大小和结构有关,这个可根据具体情况通过模拟找到一个合适的选择率;(4)三种转化方法的转化效力结果表明,家系内混合家系选择的转化效力最高,家系内全同胞选择次之,估计育种值选择的转化效力较差。

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