查询词典 mutation

If the proband has other affected family members, each child of the proband has a 50% chance of inheriting the mutation.

如果先证者有另一个家族成员患病，每个先证者的子女有50％的几率遗传此突变。

Methods A CMT2L proband with 423 mutation in HSP22 gene had been studied and reported by the present authors.

方法应用聚合酶链反应和DNA直接测序方法，对1个发现HSP22基因423突变的CMT2L家系外的114个CMT家系先证者进行了HSP22基因的突变分析。

Results No mutation of GJB6 and GJB3 genes was found in the proband and her parents.

结果 先证者及其父母GJB3、 GJB6基因测序未发现突变。

Testing of relatives at risk: Biochemical and/or molecular genetic testing (if the mutation status of the proband is known) allows early diagnosis and treatment.

对高危血亲检测：生化和／或分子遗传学检测（如果先证者的突变情况已知）可以使得病情被早诊断、早治疗。

Carrier testing of at-risk female relatives is available on a clinical basis if the mutation has been identified in the proband .

如果在先证者中检出突变，则可在临床基地对高危女性家属进行携带者检测。

The risks to family members of a proband with RB depend upon whether or not the proband has a germline RB1 mutation .

对 RB 先证者的家族成员的风险取决于该先证者是否有 RB1种系突变。

Of 12 tomato lines, the analysis on the 4 fruit nourishment quality traits (the contents of vitamin C, total soluble solids and dry matter and ratio of sugar-acid ) was carried out to study the four kinds of disparities, which included the interspecific one, the one between two varieties in the same species , the one between the lines bred by different means in the same variety ,and the one between the different fruit-shaped lines in the same variety .The analytic method of orthogonal comparison of single degree of freedom was applied. The results showed that the line of Lycopersicum pimpinellifolium was better than the average of the lines of L.esculentum in the 4 traits at significant level of 1%, the average of the lines of var.cerasiforme was better than the average of the lines of var.vulgare in the 4 traits at significant level of 5% or 1%,and the two space mutation line(YH02-2 or YH02-6) was better than the average of the other lines of the same variation in the 4 trait, respectively, at significant level of 1%. Of the lines of var.cerasiforme , the lines with pear fruit were lower than the average of the lines with round-shaped or plum-shaped fruits in the 2traits(the contents of vitamin C and total soluble solids), at significant level of 1%,the lines with plum-shaped fruits were higher than the average of the lines with round-shaped fruits, at significant level of 1%,and the lines with yellow-colored fruits(YH02-11) was lower than the average of the lines with red-colored fruits(YH02-1and YH02-7) in the trait of the contents of vitamin C.

对12个品系进行种间、种内变种间、变种内不同选育方式间、变种内不同果实形状间在果实营养品质（果实维生素C含量、可溶性固形物含量、干物质含量和糖酸比）上的差异进行分析，采用统计学上单一自由度正交比较分析法与植物学分类相结合的方法进行分析，结果表明：醋栗番茄种品系YH02-12在4个营养品质性状上，极显著高于普通番茄种品系；樱桃番茄变种品系在4个营养品质性状上的平均水平极显著或显著高于普通番茄变种品系的平均水平；2个空间诱变品系YH02-2、YH02-6在4个营养品质性状上均极显著高于同变种的其他品系的平均水平；樱桃番茄变种品系中，梨形果品系YH02-5、YH02-8的果实维生素C、可溶性固形物含量均极显著地低于樱桃番茄变种中圆形或李形品系的平均水平，李形果品系YH02-9在4个营养品质性状上均极显著地高于圆形果品系的平均水平，黄色圆形果品系YH02-11的果实维生素C偏低于红色圆形果品系YH02-1和YH02-7。

The construction of A83 eukarotic expression vector will play an important pole in researching the effect on HBeAg expression and disease mechanism when A83 mutation in HBV signal peptide reg

HBV A83点突变真核表达载体的构建为体外研究该点突变对HBeAg表达的影响以及HBeAg阴性的乙型肝炎病毒感染的致病机理奠定基础。

Objective:To explore the relationship between D44v6 expression, p53 gene mutation, cell ploidy and colorectal metastasis.

目的：探讨大肠癌CD44v6表达、p(53)基因突变和染色体倍性与大肠癌转移之间的关系和作用机理。

Conclusion. 1.This plasmid as standard, the certification of the method can be used for both mutation detection.

结论1、以此质粒为标准品，验证了该方法可以用于这两种突变的检测。

The split between the two groups can hardly be papered over.

这两个团体间的分歧难以掩饰。

This approach not only encourages a greater number of responses, but minimizes the likelihood of stale groupthink.

这种做法不仅鼓励了更多的反应，而且减少跟风的可能性。