RESUMO
In this paper, we present complete mitochondrial genome of the Italian legless lizard species Anguis veronensis Pollini, 1818. The complete mtDNA consisted of 13 protein-coding genes, 22 tRNAs, and two rRNA genes which in total formed a DNA strand of 17,322 bp. Anguis veronensis mitogenome had the same gene order as two other compared Anguis spp., i.e. A. cephallonica and A. fragilis. The base composition of A. veronensis mitochondrial genome was A - 30.8%, T - 24.9%, C - 29.9%, G - 14.4%, with an A + T bias (55.7%). The newly described genome provides valuable data for future comparative mitogenomic analysis within Anguis genus.
RESUMO
Amazona barbadensis is an endangered species of parrot living in northern coastal Venezuela and in several Caribbean islands. In this study, we sequenced full mitochondrial genome of the considered species. The total length of the mitogenome was 18,983 bp and contained 13 protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes, duplicated control region, and degenerate copies of ND6 and tRNA (Glu) genes. High degree of identity between two copies of control region suggests their coincident evolution and functionality. Comparative analysis of both the control region sequences from four Amazona species revealed their 89.1% identity over a region of 1300 bp and indicates the presence of distinctive parts of two control region copies.
Assuntos
Amazona/genética , DNA Mitocondrial/genética , Espécies em Perigo de Extinção , Genes Mitocondriais/genética , Genoma Mitocondrial/genética , Região de Controle de Locus Gênico/genética , Animais , Composição de Bases , Sequência de Bases , Evolução Molecular , Ordem dos Genes/genética , Tamanho do Genoma/genética , Dados de Sequência Molecular , Alinhamento de Sequência , Análise de Sequência de DNA , Homologia de Sequência , Especificidade da Espécie , VenezuelaRESUMO
We analyzed seven most common mutations within the CYP21B gene, responsible for congenital adrenal hyperplasia (CAH), using the minisequencing method. Functional CYP21B gene sequences were amplified with the pair of specific primers that pevented amplification of pseudogene CYP21P or pseudogene CYP21P/active CYP21 hybrids. Multiplex minisequencing (SNaPShot PCR) assay was performed with fluorescent dideoxynucleotides ([F]ddNTPs) and originally designed primers, claiming seven most common mutation sites responsible for the CAH symptoms. Using the method we detected five novel substitutions of unknown effect on the CAH course in five out of seven analyzed mutation sites. Compared to classic SNPs analyzing methods, especially single SNP detection, multiplex minisequencing is the same highly specific and sensitive but much faster one. The method is recommended for any population screened for known mutations.