Assuntos
DNA Bacteriano/análise , Mycobacterium tuberculosis/isolamento & purificação , Tuberculose Cutânea/diagnóstico , Eletroforese em Gel de Ágar , Fixadores , Formaldeído , Humanos , Mycobacterium tuberculosis/genética , Inclusão em Parafina , Filipinas , Reação em Cadeia da Polimerase/métodos , População BrancaRESUMO
Genome-wide scans in bipolar disorder and a meta analysis on published data have provided evidence for linkage to chromosome 13q, although the reported peaks from various studies have not converged in a narrow region. Recently, single nucleotide polymorphisms (SNPs) at the G72/G30 locus have been shown to be associated with bipolar disorder suggesting its potential role in increasing disease risk. The proposed linkage region on 13q extends over a wide span, and could provide a clue to the existence of other susceptibility variants. In the present study, SNPs in the LOC93081-KDELC1-BIVM, a region proximal to G72, were interrogated in two bipolar family series. KDELC1 has a predicted filamin domain and BIVM contains an immunoglobulin-like motif. The small pedigree series yielded a nominally significant global P-value due to under-transmission of a rare haplotype but this finding was not supported by results from the larger series and in the case-control study that compared 278 cases and 277 controls.
Assuntos
Transtorno Bipolar/genética , Cromossomos Humanos Par 13/genética , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único , Alelos , Estudos de Casos e Controles , Proteínas Contráteis/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Saúde da Família , Feminino , Filaminas , Frequência do Gene , Genótipo , Haplótipos , Humanos , Imunoglobulinas/genética , Masculino , Proteínas dos Microfilamentos/genética , Repetições de Microssatélites , LinhagemRESUMO
Extensive length variability was observed in the mitochondrial control region of the milkfish, Chanos chanos. The nucleotide sequence of the control region and flanking regions was determined. Length variability and heteroplasmy was due to the presence of varying numbers of a 41-bp tandemly repeated sequence and a 48-bp insertion/deletion (indel). The structure and organization of the milkfish control region is similar to that of other teleost fish and vertebrates. However, extensive variation in the copy number of tandem repeats (4-20 copies) and the presence of a relatively large (48-bp) indel, are apparently uncommon in teleost fish control region sequences reported to date. High sequence variability of control region peripheral domains indicates the potential utility of selected regions as markers for population-level studies.
