The dystrophin gene is the largest human gene. Mutations in this gene cause Duchenne muscular dystrophin (DMD) disease. This is complex genomic unit exhibiting many errors splicing during mRNA process. More than 10 alternative splicing products have been identified in the 5' region of the dystrophin gene. In this study, two dystrophin transcripts including one containing exon 2 and exon X duplications, other one containing single exon 2 duplication were identified in peripheral blood lymphocytes of DMD case. Interestingly, genomic Southern blot analysis ruled out the hypothesis of duplication of dystrophin at exon 2. Therefore, these data suggested that exon 2 duplication transcripts were likely generated by trans-splicing event that occurring during the mARN maturation in which RNA segments of two independent transcripts are spliced together to generate a new mRNA species. However, the mechanisms modulating the trans-splicing activity of the dystrophin exon 2 remain to be clarified.
Muscular Dystrophy, Duchenne, Dystrophin, Genes, DMD protein, human

Analysis of gene mutation at AND degree on 2 patients with Duchenne having clinical complications: muscle weakness occurred early and progressive, enlarged leg muscles, increased CK level in peripheral blood, muscle biopsy present specific image of the disease. 19 exon were the most commonly mutated on dystrophin gene were selected to implement PCR reaction. Results showed that exon 45 had partial deletion phenomenon in all two patients while exon 44 and 48 had not this model. The patients were determined as bearing consecutive partial delete mutation of three exon 45, 46, 47 on dystrophin gene. This mutation caused incorrect coding frame
Muscular Dystrophy, Duchenne ; Muscular Dystrophies ; Genes

A majority deletion of 27 exons expanding from 8-34 at rod domain of dystrophic gene was identified in a Duchene Muscular Dystrophy (DMD) patients. Polymerase chain reaction (PCR) was used to analyze the deletion. The deletion caused an out of frame mutation leading to nonsense mutation which early stops code in exon 35 of dystrophic gene. The DMD gene was analyzed at both genomic DNA and mRNA levels. Identification of deletion at mRNA level is very useful for rapid diagnosis of DMD patients and avoid missing some mutations that we can’t identify at DNA level
Muscular Dystrophy, Duchenne ; Dystrophin ; Genes

AND samples of 85 Duchenne/Becker muscular dystrophy patients treated at Department of Endocrinology, Pediatric Hopital Swede-Ha Noi were analyzed. Patients were diagnosed based on typical clinical characteristic of disease, increasing plasma CK concentration and family prehistory. The result showed that mutation is quite common, concentrating mainly at 5’ final region and central region, analyzing 19 exons among 79 exons of total dystrophin gene have been detected nearly 40% patient with mutation of wipe section. Appling PCR method to determine mutation on 19 typical exons will allow fastly and exactly diagnosis
Diagnosis ; Muscular Dystrophy, Duchenne ; Diagnosis ; Polymerase Chain Reaction

Background: Production of semi-functional dystrophin protein from the dystrophin gene encoded with a premature stop codon has been shown to modify the severe phenotype of Duchenne Muscular Dystrophy (DMD). The mutation of the dystrophin gene affects the process of complete mRNA and is important in gene therapy. Objective: To analyze the mutation of dystrophin gene in DMD cases. Subjects and methods: A patient with diagnosed with DMD when he was 2 years old, and at age 9, he was completely disabled and had to use a wheelchair. DNA and total RNA were extracted from fresh peripheral blood; cDNA was synthesized by transcript polymerase chain reaction (RT - PCR). PCR, nested PCR or sequence methods were used to determine the mutation of the dystrophin gene. Results: A nonsensical mutation (E638) due to a single nucleotide change in exon 17 of the dystrophin gene (GAA2047TAA) was identified. This mutation affects mRNA splicing process and induces complete exon 17 skipping. Conclusion: Patients, who had E638X mutation with exon 17 deletion in the dystrophin gene, had clinical symptoms of Becker Muscular Dystrophy (BMD). This discovery as a potential target for therapeutic strategies for DMD, to change the severe phenotype of DMD to a milder phenotype (BMD), in order to improve clinical conditions for the patients.
Duchenne muscular dystrophy ; dystrophin gene

Background: Semiquantitative PCR and quantitative PCR are accurate and simple methods. They are commonly used to determine amplified gene levels in PCR reaction. Objective: Using semiquantitative PCR and quantitative PCR methods to determine HIP transcript levels in cancer and normal tissue; to evaluate sensibility of two methods. Subject and methods: 30 cancer patients were diagnosed based on clinical, para-clinical (ultrasound, biochemistry, histopathology) at K hospital in Hanoi. 15 benign tissue samples are used for control.mRNA was extracted from cancer and normal tissues, cDNA was synthesized by reverse transcript-polymerase chain reaction (RT - PCR); HIP transcript was determined using semiquantitative PCR and quantitative PCR methods. Results: Both methods showed the same results: HIP transcript was increase in cancer tissues but very low in normal tissues. This showed that HIP was linked closely with the development of cancer tissue. Conclusions: Levels of HIP transcript was different between cancer tissue and the normal control. Semi- quantitative PCR and quantitative PCR are useful methods to determine HIP transcript for cancer diagnosis. \r\n', u'\r\n', u'\r\n', u'
Neoplasms ; Hip

Background: Heparan-sufate interacting protetin (HIP) has been known to be up-regulated and expressed in various human cancer cell lines at both transcript and protein levels. HIP\u2019s expression was related to the differentiation status and cancer development. Objective: Using a semi-quantitative PCR method to determine HIP transcript levels in benign prostatic hyperplasia (BPH), prostatic intraepithelial neoplasia (PIN) and prostate cancer tissues. Subjects and methods: 30 samples of BPH, 12 samples of high-grade PIN, and 40 samples of prostate cancer were collected from patients at Viet Duc Hospital and Friendship Hospital. Total RNA was extracted from BPH, PIN and prostate cancer tissues; cDNA synthesis by reverse transcript - polymerase chain reaction (RT - PCR); HIP transcript determination using semi-quantitative PCR. Results: There was significant difference in HIP transcript levels. HIP transcript was very highly up-regulated in the prostate cancer tissues. The up-regulation of HIP transcript was lower in PIN, and lowest in BPH. HIP transcript levels in benign samples were 1/2 and 2/3 compared with cancer and PIN samples, respectively (P< 0.05). These indicated that up-regulation of HIP transcript may be an early event in tumorigenesis. Conclusions: Levels of HIP transcript were different between tissues of prostate cancer, PIN, and BPH. HIP may be a marker for pre-cancer of the prostate.
HIP/L29 ; prostate cancer ; Transcript

Background: Epidermal Growth Factor Receptor (EGFR) is a transmembrane cell-surface glycoprotein with intrinsic tyrosine kinase activity. EGFR has been shown to stimulate cell proliferation and to enhance the migration and invasiveness of breast cancer. EGFR is expressed in epidermal cell lines and have been implicated in the pathogenesis of many different types of cancer. Objective: To evaluate the level of EGFR transcript in breast cancer and normal tissues; comparison the EGFR transcript level at different development stages and cancer cell types. Subject and methods: Total RNA from 62 tissue samples including 47 breast cancer and 15 normal tissues were extracted; cDNA synthesis by reverse transcript polymerase chain reaction, EGFR transcript level were determined using semi-quantitative RT-PCR. Result and conclusions: EGFR transcript level was highly expressed in breast cancer tissues compared to the normal tissues. Especially, its expression was related to the different status and cancer cell types of breast cancer. There was a difference of EGFR transcript level between histological pathology\u2019s forms of breast cancer in the same stage.
breast cancer ; Epidermal growth factor receptor

Background: Heparansulfate Interacting Protein (HIP) is a protein that belongs to a novel class of heparin and heparansulfate binding protein. It plays an important role in extracellular matrix structure and function, cell-cell and cell-extracellular matrix adhesion, growth and differentiation. HIP was shown to be expressed in normal epithelia and epithelial cell lines at both mRNA and protein levels. Especially, HIP was found to be up-regulated in some cancer cell lines and related to different status and metastasis.\r\n', u'Objectives: To determinate HIP transcript level of mRNA in breast cancer tissues in comparison with normal tissues; to compare HIP transcript level at different cancer stages and cancer cell types. \r\n', u'Subjects and method: Total RNA was isolated from 62 tissue samples (47 breast cancer and 15 normal tissues); cDNA synthesis by reverse transcript \u2013polymerase chain reaction (RT \u2013 PCR); determination of HIP transcript using semi-quantitative RT \u2013 PCR. \r\n', u'Results: HIP transcript was particularly up \u2013 regulated in breast cancer tissues compared to normal tissues, especially this up-regulated in cancer tissues at different stages of development and cancer cell types. \r\n', u'Conclusion: These results show that the HIP transcript level was different between breast cancer and normal tissues and its expression was related to different status and metastasis in human cancer cell lines. HIP may be used as a prognostic marker for breast cancer.\r\n', u'
Heparansulfate Interacting Protein (HIP) ; breast cancer

Background: Heparansulfate Interacting Protein (HIP) is up-regulated in various human cancer cell lines at both transcript and protein levels. HIP expression is related to the differentiation status and cancer development. Objectives: To determine HIP in benign prostatic hyperplasia, prostatic intraepithelial neoplasia and prostate cancer tissues. Materials and method: Western blot method was used to determine HIP expression in 3 different types of prostate tissue, including 11 prostate cancer samples, 2 benign prostatic hyperplasia samples and 11 prostatic intraepithelial neoplasia samples. Results. HIP was particularly up-regulated in prostate cancer and prostatic intraepithelial neoplasia, indicating that up-regulation of HIP expression may be an early event in tumorgenesis. Conclusion: The expression of HIP was different between cancer, prostatic intraepithelial neoplasia tissue and benign prostatic hyperplasia. HIP may serve as a prognostic marker for prostate carcinoma.
HIP expression ; Prostate cancer ; Prostatic hyperplasia.