ABSTRACT
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is increasingly recognized as a cause of various neurological disorders but a high index of suspicion is important to make the diagnosis. We report two Chinese patients with GLUT1DS, one of which had a novel mutation in the SLC2A1 gene.
Subject(s)
Glucose Transporter Type 1/deficiency , Glucose Transporter Type 1/genetics , Mutation/genetics , Adolescent , Asian People/genetics , Blood Glucose/metabolism , Carbohydrate Metabolism, Inborn Errors/diet therapy , Carbohydrate Metabolism, Inborn Errors/genetics , Child, Preschool , DNA Mutational Analysis , Diet, Ketogenic/methods , Female , Glucose/cerebrospinal fluid , Guanosine/analogs & derivatives , Guanosine/metabolism , Humans , Male , Monosaccharide Transport Proteins/deficiency , Monosaccharide Transport Proteins/geneticsABSTRACT
OBJECTIVE: To investigate the molecular epidemiology of recently diagnosed HIV-1 infection in Macao for better understanding the epidemiology in this Chinese city, in context of its relationship with other countries in Asia and the rest of the world. METHODS: Serum samples of HIV positive cases reported between 2005 and 2007 were collected from the Macao Public Health Laboratory. HIV genotype was determined by phylogenetic analysis of sequences from gag, RT, and env regions. RESULTS: A total of 30 HIV positive samples were genotyped. The HIV-1 viruses circulating in Macao were characterized by their relatively high genetic diversity. CRF01_AE was predominant (56%), followed by subtype B (13%), CRF12_BF (10%), G/CRF12_BF, A1/CRF10_AD and CRF07_BC, of which CRF12_BF and G/CRF12_BF were first reported in Southeast Asia. Phylogenetic analysis showed that there was no clear clustering of CRF01_AE strains but a distinct CRF12_BF cluster associated with injection drug use could be delineated. CONCLUSION: The results suggested that there were multiple introductions of HIV strains in Macao that have been circulating for an extended period of time, superimposed by an outbreak in injection drug users.
Subject(s)
Disease Outbreaks , Genetic Variation , HIV Infections/epidemiology , HIV Infections/virology , HIV-1/classification , HIV-1/genetics , Adult , Cluster Analysis , Female , Genotype , HIV Reverse Transcriptase/genetics , HIV-1/isolation & purification , Humans , Macau/epidemiology , Male , Molecular Epidemiology , Phylogeny , RNA, Viral/genetics , Sequence Homology , env Gene Products, Human Immunodeficiency Virus/genetics , gag Gene Products, Human Immunodeficiency Virus/geneticsABSTRACT
With considerable capacity for genetic diversification, new HIV-1 genotypes have been reported over the years. Three HIV-1 isolates previously genotyped as B using gag and env sequences were completely sequenced and reanalyzed. Several amino acid mutations were found in vif, rev, and nef genes but not in gag or env sequences. These alterations have not previously been reported in Hong Kong. The investigation of phylogenetic relatedness revealed that a region of the vif of the studied Hong Kong isolates subtype B cluster contains several subtype D signature amino acid residues. Several unique mutations on vif in these three isolates were also identified.
