The Study in the Intron 1 of Human Na/K-ATPase α1 Subunit and the Relationship between the Structure and Function of the 5'FS of ANP Gene Derived from Salt Sensitive Hypertension Pedigrees
Objective To study the association of the polymorphism of the 377 base pair of muscle glycogen synthase gene(GYS1)intron 14 with type 2 diabetes mellitus and complicated with hypertension in the middle-aged and elderly people of Tianjin.
Conclusions The polymorphism of the 377 sites of GYS1 intron 14 was not associated with type 2 diabetes mellitus and complicated with hypertension in the middle-aged and elderly subjects of Tianjin.
[Methods] The genotypes of +299G/A variant in resistin gene intron 2 were determined with polymerase chain reaction-restriction fragment length polymorphism assay(PCR-RFLP)of 261 subjects in Han Chinese of the North.
The gene of human apolipoprotein B(apoB) is located on the short arm of chromosome 2 at the p23~24 region and is 43 kilobase(kb) in length, with 28 introns and 29 exons. The mature RNA transcript of the apoB gene is 14kb and encodes 4536 amino acids.
(3) Designing primer: The AT1 genomic sequence (AF245699) from the database of American National Center of Biotechnology Information and its mRNA sequence (NM-000685) were compared to identify the promoter region, 5' untranslated region, intron region, coding region, and 3' untranslated region. Using Primer 3 software developed at Whitehead Institute, the primers of the promoter region, the exons, flanking introns were given PCR amplification.
Method:In a family with FPAVJRT, PCR- DNA direct sequencing were performed to screen the exons and their flanking introns of KCNQ1 and KCNH2 genes for mutations.
Methods In a family with LQTS(Jervell Lange-Nielsen syndrome),PCR-DNA direct sequencing was performed to screen the exons and their flanking introns of KCNQ1 and KCNH2 genes for mutations.
All of the nine exons and intron-exon boundaries of protein C gene of the propositus were analyzed by direct sequencing of the corresponding amplified PCR products in DNA from the propositus.
3. Through whole CETP gene screening including promoter region, all 16 exons and adjacent intronic regions, 5501 bp in total, 12 novel SNPs were identified.
Objective: To investigate the relationship between ANP gene T2238C, G1837A single nucleotide polymorphism (SNP), gene haplotype and essential hypertension in Xinjiang Kazakhs.
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.
Mutation analysis of three exons of the MURR1 gene including the intron-exon boundaries was performed in 63 Wilson disease patients by direct sequencing.