RESUMO
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human Delta7-sterol reductase (DHCR7) gene and, so far, 19 different mutations have been described. Among these, mutations impairing the activity of the C-terminus appear to be the most severe. Here we report the mutational analysis of the DHCR7 gene in nine Italian SLOS patients. The T93M mutation, previously reported in one patient, results the most frequent one (7/18 alleles) in our survey. Furthermore, we identified three novel mutations, two missense mutations (N407Y and E448K), and a 33 bp deletion spanning part of exon 5 and the donor splice site of intron 5.
Assuntos
Mutação de Sentido Incorreto , Oxirredutases atuantes sobre Doadores de Grupo CH-CH , Oxirredutases/genética , Síndrome de Smith-Lemli-Opitz/genética , Adolescente , Alelos , Pré-Escolar , Colesterol/biossíntese , Análise Mutacional de DNA , Face/anormalidades , Feminino , Deleção de Genes , Humanos , Lactente , Deficiência Intelectual/genética , Itália , Masculino , LinhagemAssuntos
Micronutrientes/análise , Leite Humano/química , Minerais/análise , Adulto , Disponibilidade Biológica , Fenômenos Químicos , Físico-Química , Cromatografia Líquida , Feminino , Humanos , Itália , Micronutrientes/farmacocinética , Minerais/farmacocinética , Valor Nutritivo , Espectrofotometria AtômicaRESUMO
Ochratoxin A is a mycotoxin frequently found as a contaminant both in food and in animal feed. It can reach humans through the food chain and can then be excreted in biological fluids, one of which is human milk; it can therefore be transmitted from mother to child during breast-feeding. This fact prompted us to carry out the present study, aimed at the determination of ochratoxin A in human milk in Italy, as done elsewhere. Fifty samples of human milk were collected randomly over one year and analysed by a high-performance liquid chromatography method. Nine samples were found to contain levels in the range of 1.7-6.6 ng/ml.