X chromosome inactivation has been hypothesised to play a role in the aetiology and clinical expression of the fragile X syndrome. The identification of the FMR1 gene involved in fragile X syndrome allows testing of the assumption that the fragile X locus is normally subject to X inactivation. We studied the expression of the FMR1 gene from inactive X chromosomes by reverse transcription of RNA...

objective: a recent field of research in epigenetics is dna methylation which involves the cpg island in the genome that subsequently controls transcription and translation of targeted genes. in the hepatitis b virus (hbv) genome, there are three cpg islands which tend to be methylated. the aim of the current study is to determine the methylation pattern of the hbv x gene in chronically infecte...

Background: Single domain antibodies from camel heavy chain antibodies (VHH or nanobody), are advantages due to higher solubility, stability, high homology with human antibody, lower immunogenicity and low molecular weight. These criteria make them candidates for production of engineered antibody fragments particularly in transgenic animals. Objective: To study the development of transgenic ch...

Hurler syndrome also known as mucopolysaccharidosis type 1H (MPS-1H) or gargoylism is an autosomal recessive disorder due to defective gene which encodes for enzyme alpha L-iduronidase (IUDA) located on chromosome 4p16.3 (gene encoding protein iduronidase). In the present case, 4-year Down’s child with coarse facial features, hypothyroidism presented umbilical hernia. Clinical diagnosis of was ...

Premature ovarian failure (POF) is a heterogeneous disorder, defined as menopause under age 40 years. The prevalence is 1%; POF before age 30 years is much less common. Chromosomal causes have long been recognized - visible deletions of the X chromosome, 45,X/46,XX mosaicism, and autosomal rearrangements (balanced translocations). Toxins or iatrogenic causes (e.g., chemotherapeutic agents) are ...

secA is translationally regulated by the protein secretion proficiency state of the Escherichia coli cell. This regulation was explored by making signal sequence mutations in the gene upstream of secA, gene X, which promotes secA translational coupling. Gene X signal sequence mutants were constitutive for secA expression, while prlA alleles partially restored secA regulation. These results show...

tgiflx, a homoproteins cluster member located on the x chromosome, has a critical role in male reproduction and prostate development. previous studies have shown the erratic expression of tgiflx gene in a large proportion of prostate tumors. however tgiflx function in prostate development remains unknown. the purpose of this study was to evaluate the consequences of tgiflx expression on prostat...