X-linked hyper-IgM Syndrome (XHIGM) is caused by a mutation of CD40 ligand (CD40L), which is normally expressed on activated CD4+ T cells and is responsible for immunoglobulin class switching. A 7-year-old boy with recurrent sino-pulmonary infections since the age of 3 months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and NK cells, but significantly elevated IgM and extrem...

We describe the identification of a large deletion in the BRCA2 gene as the disease-causing mutation in a Swedish breast/ovarian cancer family. The 5068-bp deletion encompassed the 3' region of exon 3, including the 3' splice site and most of intron 3, and it resulted on the mRNA level in an inframe exon 3 skipping. The junction site also included an insertion of 4 bp (CCAT). The mutation (nt50...

To test the feasibility of synthesizing recombinant peptide hormones by exon deletion and exchange, we have constructed and expressed hybrid human growth hormone (hGH)-rat prolactin (rPrl) genes in which the third and fourth exons of the hGH gene are deleted and separately replaced by the corresponding exons of the rPrl gene. These exon deletion and exon exchange genes were inserted into an SV4...

Objective: The aim of this retrospective cohort study is to evaluate the carrier frequency spinal muscular atrophy (SMA) among pregnant women and their partners admitted our clinic for routine pregnancy follow-up. Methods: included who were informed about SMA disease screening at first trimester accepted undergo SMA. Carrier was carried out using DNA extracted from peripheral blood with a quant...

Alu elements, the most abundant retrotransposed elements in human genome, are commonly located introns and affect alternative splicing. We previously showed that an intronic antisense element enhanced splicing a minigene model. The RNA experiment was performed using consisting of exons 9–11 ACAT1 with AluSx inserted into intron 10 pCAGGS vector. Here, we explored sequence affects downstream exo...

Bladder cancer is a molecular disease driven by the accumulation of genetic, epigenetic, and environmental factors. The aim of this study was to detect the deletions/duplication mutations in TP53 gene exons using multiplex ligation-dependent probe amplification (MLPA) method in the patients with transitional cell carcinoma (TCC). The achieved formalin-fixed paraffin-embedded tissues from 60 pat...

Background: Although superior clinical benefits of first-line epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) in the treatment of advanced non-small-cell lung cancer (NSCLC) had been reported with different sensitivity, the sensitivity of second-line TKIs in NSCLC patients with different EFGR mutations was unknown. The purpose of this study is to investigate the clinic...

CONTEXT Tumor suppressor genes act on the control of cell cycle progression. In pediatric neoplasias, some of these genes may be considered to be markers for diagnosis or relapse, thus probably representing prognostic indicators. OBJECTIVE To study the inactivation of the p15 gene in children with acute lymphoblastic leukemia. TYPE OF STUDY Retrospective study. SETTING Laboratory of Molec...