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SSCP was detected in exon 6 and exon9p of the gene, but not in the other exons.Results In polyacrylamide gel electrophoresis, We have not found abnormal conformer in both affected individuals and control cases. There were no differences in the DNA sequence between these two groups.

结果 在非变性聚丙烯酰氨凝胶电泳中,未发现DCM组和对照组该基因的外显子6和外显子9p出现异常构象,通过DNA测序证实两组的核苷酸序列没有差异。

The prolactin gene was studied as a candidate gene for the prolificacy of Small Tail Han sheep. Single nucleotide polymorphisms of exon 1 to exon 5 of PRL gene were detected in high fecundity breeds and low fecundity breeds (Dorset, Texel and Corriedale sheep) with five pairs of primers by PCR-SSCP.

设计5对引物,采用PCR-SSCP技术检测催乳素(prolactin,PRL)基因外显子1至外显子5在高繁殖力绵羊品种和低繁殖力绵羊品种(多赛特、特克塞尔和考力代)中的单核苷酸多态性,同时研究该基因对小尾寒羊高繁殖力的影响。

Polymorphism was detected for exon 3 of BMP4 gene in four sheep breeds. For exon 3, three genotypes were detected in four sheep breeds. In Small Tail Han, Chinese Merino, Corriedale and South African Mutton Merino sheep, frequency of genotype AA was 0.017, 0.216, 0.115, 0.429, frequency of genotype AB was 0.102, 0.317, 0.269, 0.500, frequency of genotype BB was 0.881, 0.467, 0.616, 0.071, respectively. Sequencing revealed one singlenucleotide mutation C→A at 305 bp of exon 3 of BMP4 gene in genotype BB in comparison to genotype AA, and this mutation resulted in an amino acid change of alanine→aspartic acid.

对于外显子3的引物,在4个绵羊品种中都检测到3种基因型;统计结果表明:小尾寒羊、中国美利奴绵羊、考力代绵羊、南非肉用美利奴绵羊AA基因型频率分别为0.017、0.216、0.115、0.429,AB基因型频率分别为0.102、0.317、0.269、0.500,BB基因型频率分别为0.881、0.467、0.616、0.071;测序结果表明:BB型和AA型相比在BMP4基因外显子3第305位碱基处发生C→A的突变,该突变导致氨基酸由丙氨酸改变为天冬氨酸;BB型小尾寒羊平均产羔数分别比AB型和AA型多0.61只(P.05)和1.01只(P.05)。

These analyses disclose the potential components influencing the exon splicing frequency, and provide the clue for further decipherment of novel ASEs creation, splicing selection and transcription regulation.

这些分析结果揭示了影响外显子剪接频率的潜在组成特征,也为进一步解读新的选择性剪接外显子的生成、剪接选择和转录调控提供了线索。

Through population genetics analysis, the results showed that exon 3 was subjected to strong balance selction.

通过对新外显子的群体遗传学分析,结果表明外显子3 受到的平衡选择的作用。

Mutation rate at exon of GH in five bovine species was very low with the percentage of 3.48%. The majority of nucleotide substitution was nonsense mutation and only one missense mutation was observed. Molecule tree based on haplotypes of bGH at exon 5 showed that differentiation was apparent relatively between Bubalus bubalis and Bos taurus, Bos indicus, Bos grunniens, Bos frontalis. There was no apparent differentiation among other four bovine species and they shared mutual ancestral sequence.

序列分析表明,5个牛种GH基因外显子5的遗传变异水平较低,平均核苷酸变异率约为3.48%,而且绝大多数位点的核苷酸替换是同义突变,仅发现1个错义突变位点;从GH基因外显子5序列单倍型构建的分子进化树来看,水牛与普通牛、瘤牛、牦牛及大额牛的分化相对比较明显,其他4个牛种之间并无明显分化,还享有共同的祖先序列。

The primers of exon 1 and 2 of hircine GDF9 gene were designed on base of the sequence of ovine GDF9 gene.

本研究根据绵羊GDF9基因序列设计引物扩增山羊GDF9基因的外显子1和外显子2。

Especially, in the second exon two base substitutions had been found at positions +368 and +456. At position +368, the first result was in substitution of glutamine for arginine. While the second was homonymy substitution at position +456.

在第2外显子有2处碱基取代,分别是+368处的G→A,导致精氨酸→谷氨酰胺,及+456处的T→C,为同义取代,仍为丙氨酸;第5外显子+1572处的A→G,导致组氨酸→精氨酸。

There are exon rearrangements of parkin gene in Chinese patients with AREP.

结论我国AREP患者存在parkin基因外显子重排突变;parkin基因外显子重排突变可能是我国AREP患者的主要致病因素。

One transcript contains exon 3 and 4, the second contains exons 1, 3 and 4 and the third contains all four exons.

其中一个转录物包含第3、4号外显子,第二个包含第1、3、4号外显子,第三个转录物包含有全部4个外显子

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