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In these two species of sheep, the genotypes 3, 3, 18 and 3, 3, 15 were identified.

DRB1第二外显子的第159,173,177,175,208,225位碱基上存在多态性。

In addition to these basic components, the conditional gene targeting construct had two loxp placed in the same orientation flanking the essential functional part of KIF1A gene-an exon which contains a ATP-binding consensus P-loop of the motor domain. We also carried a number of important considerations that have to be taken into account to generate a successful design for a KIF 1A conditional null allele.

除了上述基本特点之外,条件性基因剔除更主要的特点是,插入了3个方向相同的loxp位点,其中两个夹住了KIF1A的一段基本功能单位—一个包含了KIF1A运动区中和ATP结合的P-loop的外显子部位。

A T/C polymorphism was identified in exon 1 of the GUCA1B gene in 31 of the 120 probands.

结果表明,31人的GUCA1B基因外显子1存在T/C多态。

All 6 gene exons of proband,patients and healthy control group were se...

对先证者及患者和对照组SCN1B基因全部6个外显子进行测序。

Results The proband had a del-aa at nucleotide 72045 in exon 5, both of her parents and sister were correspondingly heterozygotes at the same nucleotide.

结果 先证者第72045位缺失两个核苷酸A,位于外显子5;先证者的父母及先证者的姐姐分别在DNA水平相同位点呈杂合缺失。

The results showed that the homologies of the partial exon Ⅰ sequences of the HSL genes between yak and cattle, zebu, buffalo, pig, human, mouse, and rat were as high as 99.8%, 99.6%, 97.4%, 90.6%, 88.4%, 83.5%, and 82.3%, respectively.

结果表明:牦牛与普通牛、瘤牛、水牛、猪、人、小鼠、大鼠7个物种HSL基因外显子Ⅰ部分核苷酸序列间保守性较高,同源性大小依次为99.8%、99.6%、97.4%、90.6%、88.4%、83.5%、82.3%。

Together with the cited sequences of other species (cattle, zebu cattle and buffalo), the molecular phylogenetic tree was therefore built to probe phylogenetic relationship between Bovine subfamilies, Total 5 variation sites were examined and two types of mutation, transition and transversion, were observed, with the overage percentage of nucleotide variation of 1.66%. It demonstrated the poverty of polymorphism at exon 5 of GH gene of three bovine species. There was only one missense mutation out of 5 mutation sites which led to the shift between leu and val amino.

结果表明,在雷琼牛、巴州牦牛和巴州蒙古牛中共检测到5个变异位点,核苷酸取代方式仅有转换和颠换,核苷酸平均突变率仅为1.66%,说明这3个牛种GH基因外显子5多态性较为贫乏;5个变异位点中仅有1个为错义突变,导致亮氨酸和缬氨酸的转换,但该突变在牛种中分布有差异。

4Homology rate of nucleoside acid arrays of part exonⅠof HSL gene between yakand cattle,zebu,buffalo,human,pig,rat andmouse is higher,which is 99.8%,99.6%,97.4%,90.6%,88.4%,83.5%,82.3% respectively.

4牦牛与普通牛、瘤牛、水牛、人、猪、大鼠、小鼠7个物种HSL基因外显子Ⅰ部分核苷酸序列间保守性较高,同源性大小依次为99.8%、99.6%、97.4%、90.6%、88.4%、83.5%、82.3%。

Further trial of larger sample size and screening for other exons should he conducted to investigate the relationship between the ABCB4 gene mutation and the occurrence of ICP in the Chinese population.

BCB4基因的突变与中国人ICP发病的相关性仍应进行更大样本的研究和其他外显子的筛查。

RESULTS The abnormal shifting of PCR-SSCP single-strand DNA were observed in 3 out of 11 cases of cholangiocarcinoma.

结果11例胆管癌中,3例胆管癌样品PCR-SSCP单链电泳带迁移异常,依据DNA单链构象与分子电泳迁移的关系,胆管癌p53基因5~8外显子的突变率为27%;6例有p53蛋白异常表达,阳性率为55%。

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