RESUMEN
The CC2D1A and CC2D2A genes are involved in Ca(2+)-regulated signaling pathways and have recently been implicated in the etiology of mental retardation (MR). The aim of this study was to investigate whether CC2D1A and CC2D2A polymorphisms are associated with susceptibility to MR in a Han Chinese population using a family based association approach. The sample included 172 trios (parents and offspring), and all subjects were genotyped for several single-nucleotide polymorphisms covering CC2D1A and CC2D2A. Linkage disequilibrium (LD) analysis revealed that the rs6511901 and rs10410239 polymorphisms of CC2D1A were in strong LD (D'=0.865), and haplotype analysis showed evidence for over-transmission from parents to MR offspring (p=0.0009). The LD analysis also revealed that CC2D2A single-nucleotide polymorphisms rs10025837, rs13116304, and rs7661102 were in strong LD (D'=0.848), and haplotype analysis showed significant transmission disequilibrium (p=0.0004). The results suggest the involvement of CC2D1A and CC2D2A in MR in the Han Chinese population, and some specific haplotypes may be susceptible or protective.
Asunto(s)
Proteínas de Unión al ADN/genética , Predisposición Genética a la Enfermedad/genética , Haplotipos , Discapacidad Intelectual/genética , Polimorfismo de Nucleótido Simple , Proteínas/genética , Pueblo Asiatico/genética , Secuencia de Bases , China , Proteínas del Citoesqueleto , Salud de la Familia , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Discapacidad Intelectual/etnología , Desequilibrio de Ligamiento , Masculino , Núcleo Familiar , Oportunidad Relativa , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo Conformacional Retorcido-SimpleRESUMEN
OBJECTIVE: To systematically study the chemical constituents in the roots of Gentiana dahurica. METHODS: Various column chromatographic techniques were used for isolation and purification. The structures were elucidated on the basis of spectral data (UV, IR, MS, NMR) and identified by comparing with the authentic substance. RESULTS: Seven compounds were isolated and identified as: roburic acid (1), oleanolic acid (2), beta-sitosterol (3), daucosterol (4), gentiopicroside(5), swertiamarine (6), sweroside (7). CONCLUSION: Compounds 1, 2 and 4 are isolated from this plant for the first time.
Asunto(s)
Gentiana/química , Ácido Oleanólico/aislamiento & purificación , Plantas Medicinales/química , Sitoesteroles/aislamiento & purificación , Triterpenos/aislamiento & purificación , Estructura Molecular , Ácido Oleanólico/química , Raíces de Plantas/química , Sitoesteroles/química , Espectrofotometría Ultravioleta , Triterpenos/químicaRESUMEN
Some autosomal genes are associated with development and function of nervous system. Mutations of these genes can lead to nonsyndromic mental retardation. This paper reviews recent progresses on autosomal recessive nonsyndromic mental retardation related genes, including localization, expression, biological function and pathogenesis after mutations. The prospect in this field is also discussed.
Asunto(s)
Genes Recesivos , Discapacidad Intelectual/genética , Cromosomas de los Mamíferos/genética , Humanos , MutaciónRESUMEN
OBJECTIVE: To in vestigate the constituents in root of Gentiana macrophylla. METHOD: Various column chromatographic techniques were used for isolation and purification of the principles. The structures were elucidated on the basis of spectral data (UV, IR, MS, 1H-, 13C-NMR etc.) and identified by comparing with standard substance. RESULT: Eight compounds were identified. Four compounds isolated from the chloroform fraction are: 5-carboxyl-3,4-dihydrogen-1H-2-benzopyran-1-one (1), erythrocentauric acid (2), roburic acid (3), oleanolic acid (4). Water fraction gave four known secoiridoid glucosides. They were: gentiopicroside (5), swertiamarine (6), sweroside (7), 6'-O-beta-D-glucosylgentiopicroside (8). CONCLUSION: 1 is a novel compound. It was named as erythrocentauric acid. 2 was isolated from genus Gentiana and 8 was isolated from G. macrophylla for the first time.