DOI: 10.1101/519306Jan 13, 2019Paper

Molecular Genetic Analysis of RB1 gene among Sudanese children with Retinoblastoma

BioRxiv : the Preprint Server for Biology
Nada O. IbrahimMohamed Ahmed Salih Hassan


BACKGROUND: Retinoblastoma (RB), the commonest early childhood intraocular tumor, is most often related to mutations in the RB1 gene with an incidence of 3% of all pediatric tumors. It has good prognosis if diagnosed early but it is life-threatening when diagnosed late. OBJECTIVE: To study the Molecular Genetic Analysis of Retinoblastoma (RB) in Sudanese families. METHODS: Thirty one (n=31) clinically and histopathologically diagnosed cases of RB attending Makkah Eye Complex (MEC) Orbit clinic (Khartoum, Sudan) were included in this Molecular Genetic RB Analysis. Fresh blood samples extracted from seven RB patients and 15 close families for DNA extraction and PCR were sent for Genetic Sequencing and In silico approach for Exon 18 mutations which is one of the highly mutated exons worldwide. RESULTS: The majority of patients (41.9%) were below five years old. Females were 58.1%, males were 41.9%. Leukocoria was the commonest sign at presentation (41.9%). RB Unilaterality were in (77.4%) while Bilaterality in 19.4%. Both eyes were equally affected 50% each. The age at diagnosis time ranged from 0.02 to five years. Consanguinity of parents was very high (85.7%), the 1st degree cousins were less (28.6%) while the 2nd degree was hig...Continue Reading

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