Complete genome sequence and virulence characterization of a neonatal meningitis Escherichia coli isolate.

Neonatal bacterial meningitis is a life-threatening disease in newborns, and neonatal meningitis Escherichia coli (NMEC) is the second most frequent bacteria causing this disease worldwide. In order to further understand the characteristics of this pathogen, an E. coli isolate W224 N from newborns with meningitis was sequenced for detailed genetic characterization and the virulence was tested by a series of phenotypic experiments.

[Association of genetic polymorphisms in methionine metabolism genes with X-linked adrenoleukodystrophy].

Objective: To investigate the association of the polymorphisms of methionine metabolism genes and the phenotype of X-linked adrenoleukodystrophy (X-ALD) and clinical severity.

Methods: The clinical information of 120 X-ALD patients were analyzed and three genetic variants involved in the methionine metabolism, including cystathionine beta-synthase (CBS) c.844_855ins68, 5-methyltetrahydrofolate-homocysteine-S-methyltransferase (MTR) c.

[Clinical characteristics of Huntington disease in two pedigrees and analysis of expanded CAG trinucleotide repeat].

Objective: To understand the clinical and genetic features of Huntington disease (HD).

Methods: The clinical data of HD cases from 2 Chinese families were analyzed and trinucleotide repeat in the IT15 gene were investigated in 9 of the two families by polymerase chain reaction and GeneScan.

Results: Among the two pedigrees, 6 cases were ascertained as HD by genetic test.

[Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].

Objective: To identify the parental origin of methyl-CpG-binding protein 2 (MECP2) gene mutations in Chinese patients with Rett syndrome.

Methods: Single nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome. Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP, to determine which allele was from the father.

[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].

Objective: Rett syndrome (RTT) is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. The aim of this study was to investigate the correlation between MECP2 genotype and phenotype and thereby not only to provide assistance for clinical care, but also facilitate clinical genetic counseling.

Method: Individual phenotype characteristic and clinical severity of 126 children with RTT diagnosed by molecular genetic methods were evaluated by using scales of Kerr et al and Scala et al.

[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].

Objective: To study the spectrum of mutations in methyl-CpG-binding protein 2 gene (MECP2) and cyclin-dependent kinase-like 5 gene (CDKL5) in Chinese pediatric patients with Rett syndrome (RTT), and establish a simple, quick, and efficient gene test method as well as screen a strategy of genetic diagnosis for RTT.

Methods: Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes of 117 pediatric patients diagnosed from 1987 to 2007. PCR was used to amplify the exons 1 - 4 of MECP2 using published primers.

[Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].

Objective: Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that affects females almost exclusively, caused by mutations in MECP2 gene on chromosome Xq28, with symptoms such as autism, severe mental deficiency, deceleration of head growth, ataxia, loss of purposeful hand function and characteristic stereotypic hand movements. Over 80% MECP2 mutations located in the exon 3 and exon 4 were confirmed by our work and large-scale studies. RTT is defined based on clinical presentation.