Objective:To investigate the distribution of 287bp fragment insertion/deletion(I/D) polymorphism at intron 16 of angiotensin converting enzyme(ACE) gene of healthy Tibetan nationality in Lhasa and Naqu.
The results from electrophoretic mobility shift assay (EMSA) demonstrated that the first 12 bp in 5′-region of first intron of the FⅧA gene was capable of binding transcription factors and hereby regulated the gene expression.
The findings, which showed that intron also play an important role in expression of the FⅧA gene, provide a novel evidence for further study of the pathogenesis of hereditary factor Ⅷ deficiency.
An over-expression has been observed in colon adenocarcinoma CX-1. Rab2B gene consists of nine exons and eight introns and is mapped to14q11.1-14q11.2 in chromosome.
Mouse Exon la is divided into two parts by a 165 bp mini-intron, and has at least two splice donor sites (sd1 and sd2) in the 5'UTR1 and one additional splice donor site (sd3) in the coding region of exonla.
Furthermore, characteristics of EID, such as intron phase, distribution of different splice sites, and the relationship between genome size and intron proportion or intron density, have been studied.
The exon-intron structure of these genes has been analyzed in zebrafish Danio rerio, loach Misgurnus fossilis, fugu Takifugu rubripes, and Nile puffer Tetraodon fahaka.
This is supported by high sequence similarity between mlc1 and mlc3 as well as by the exon-intron structure of these genes and their localization on different chromosomes.
The result indicated that the sequence was 1,813 bp (BamHI and SacI were introduced at the 5' and 3' end) including 7 extrons and 6 introns, coding 238 amino acids.
Studies on the statistical characteristics of EID show that there were 103, 848 genes, 478,484 introns, and 582,332 exons, with an average of 4.61 introns and 5.61 exons per gene.
Results of the statistical analysis on the data from nine model species showed that in eukaryotes, higher species do not necessarily have more introns or exons in a gene than lower species.