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    Prevalence of Human Epidermal Growth Factor Receptor 2 (HER2) Ile655Val Polymorphism in Breast Cancer Sudanese Patients
    (University of Khartoum, 2008-08) Yassin, Hiba ; Salah Eldin, Hiba
    Breast cancer is considered the most common type of cancer and the second cause of death among Sudanese women. The cause of this cancer is poorly understood. The human epidermal growth factor Receptor 2 (HER2/erbB2) seems to play an important role in the development of this neoplasia, and single nucleotide polymorphisms (SNPs) in the HER2 gene have been associated with breast cancer. In our study, we aimed to investigate the presence of HER2 gene Ile655Val polymorphism in breast cancer patients and healthy volunteers. We have analyzed the prevalence of HER2 gene (Ile655Val) polymorphism in blood and buccal samples from 101 breast cancer patients and 20 healthy volunteers using the polymerase chain reaction (PCR) technique, followed by restriction fragment length polymorphism (PCR-RFLP). We found no significant association between this mutation and development of breast cancer. The prevalence of this mutation among the breast cancer patients was nearly 5%. Also, there was a significant deviation from Hardy-Weinberg Equilibrium (P = 0.005). Further studies including larger sample size and more risk factors are needed to evaluate the role of this polymorphism in the behavior of breast cancer
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    Hepatitis B surface antigen (HbsAg) and Hepatitis B DNA as surrogate markers for HBV infection in blood donors.
    (University of Khartoum, 2008-08) Mohamed, Mansour ; Awad, El-Tahir
    Objective: This study aimed to evaluate the presence of hepatitis B surface antigen (HbsAg) and hepatitis B virus DNA (HBV DNA) as surrogate markers of HBV infection in blood donors using the Enzyme Linked Immunosorbent Assay (ELISA) and PCR techniques. Study design: This was cross-sectional study, that involved100 plasma samples that were collected from aberrantly healthy donors in donations sessions of Central Blood Bank, Khartoum, during a period of two months. HbsAg tested for by ELISA, while HBV DNA was looked for using nested PCR using the following primers: (HBV genome 1 353-1 377) and (HBV genome 1 702-1 681) Results: 5% of samples which were negative by ELISA were reported positive by PCR. Only 1% of samples were positive by ELISA and negative by PCR (Occult infection). Discussion Some blood donor although look healthy during the screening process for donation, may be in the window period of infection before anti-HbsAg antibody development. Consequently, the use of ELISA as a sole screening test of the donated blood for HbsAg holds the risk of transmitting HBV infection to recipients. HBV infection can hold the risk of progression to chronic active hepatitis and hepatocellular carcinoma. Volunteers in the window period can be picked by nested PCR.
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    Probable pre-leukaemic cytogenetic and molecular aberrations in cohort of Sudanese neonates: Mixed Lineage Leukaemia gene paradigm
    (University of Khartoum, 2008-07) Salih, Mohamed
    Cancer is the most common cause of morbidity and mortality all over the world. Pediatric acute leukaemias are the most common type of childhood cancer in developed countries. The high percentage ( 68%) of Mixed Lineage Leukaemia gene rearrangement supports the theory that some events that occur prenatally may play a role in the development of acute leukaemias. This study aimed to detect the probable pre-leukaemic cytogenetic and molecular aberrations in a cohort of sudanese neonates taking Mixed Lineage Leukaemia gene as a paradigm. Fifty cord blood samples were taken at the time of birth and divided for molecular and cytogenetics techniques. Family history of cancer is present in only 4% of the women (2/50). Drug history during pregnancy contained only haematinics in form of Iron/Folate combination which was taken by the majority (45/50, 90%). Specifically, volunteers denied the use of hormones and anticancer drugs during pregnancy the course of the pregnancy. Few of them were reported to be hypertension and Diabetes. Karyotyping was done to detect morphological chromosomal abnormalities and then Reverse Transcriptase – PCR was done to detect any abnormalities at the gene level related to MLL gene. Firstly blood cultured in RPMI 1640 medium and incubated for three days then harvested and slides prepared. Slides banded by trypsin enzyme then stained with giemsa stain. Chromosomes were analysed and photos obtained by cytovision . For PCR, we used Reverse Transcriptase PCR . RNA extracted and then converted into DNA for nested PCR. Agarose Gel Electrophoresis done and photos obtaind. We found that there is no chromosomal aberrations or gene rearrangements in a group of Sudanese neonates. In conclusion, no chromosomal aberrations or (Mixed Lineage Leukaemia/All1fused gene from chromosome 4) gene rearrangement could not be detected in the cord blood from a cohort of healthy Sudanese neonates. Sample size was severely compromised by taboos about cancer. Large sample size needs to be included in future studies looking for probable preleukaemic genes.
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    Epidermal Growth Factor Receptor Intron 1 CA repeat Polymorphism in Sudanese Breast Cancer Patients
    (University of Khartoum, 2008-08) Ahmed, Sami ; El-Tayeb, Muntasir
    Epidermal Growth Factor Receptor is one of the erbB family of Receptor Tyrosine Kinases (RTKs). A highly polymorphic microsatellite in intron 1 of the gene was found to affect the expression of the gene. Individuals with shorter repeats were found to have higher expression levels of the protein, and therefore benefit more from anti-EGFR drugs. In the present study 11 breast cancer patients and 12 healthy volunteers from the Sudanese population were genotyped using polymerase chain reaction and polyacrylamide gel electrophoresis. Two alleles were found: a short allele with a frequency of 0.591 in breast cancer patients and 0.083 in healthy volunteers, and along allele with a frequency of 0.409 in breast cancer patients and 0.917 in healthy volunteers. It can be concluded that the length of this CA-SSR may have a major role in carcinogenisis in Sudanese breast cancer patients.
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    Promoter methylation status of two DNA Repair genes (hMLH1 and MGMT) in Breast, colorectal and Oesophageal cancer.
    (University of Khartoum, 2008-08) Mustafa, Mayada ; E.Ibrahim, Muntaser
    CpG-island-promoter hypermethylation is a major mechanism of epigenetic silencing of tumour suppressor genes. In this study we determined the methyaltion status of CpG island in the promoter regions of six tumour suppressor genes: p16, p14, hMLH1, MGMT, BRCA1 and BRCA2 in a panel of breast, colorectal and oesophageal cancer samples using methylation specific polymerase chain reaction (MSP) following bisulfite conversion of whole genomic DNA. Promoter hypermethylation of at least one of these genes was noted in 94% of samples successfully tested. A tissue-specific pattern of methylation was noted, in particular, p14 and BRCA2 in breast cancer, and hMLH1 and MGMT in colorectal cancer