EUROPEAN JOURNAL OF
PHARMACEUTICAL AND MEDICAL RESEARCH

An International Peer Reviewed Journal for Pharmaceutical, Medical & Biological Sciences

An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)

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 ISSN 2394-3211

Impact Factor: 4.897

 ICV - 79.57

Abstract

RETINOBLASTOMA SUSCEPTIBILITY GENE (RB1) POLYMORPHISM AMONG CHILDREN IN CALABAR, NIGERIA

Mary E. Kooffreh*, Roseline Duke, Nkoyo Ephraim and Anthony Umoyen

ABSTRACT

Retinoblastoma is an eye disease causing blindness and death in children. The screening of the RB1 gene in retinoblastoma children, relatives and controls lead to the documentation of more than 900 mutations in different populations, which are important for genetic counselling, characterization of phenotypic-genotypic relationships and clinical management of the disease. There is no information on the RB1 gene polymorphism among retinoblastoma children in Calabar, Nigeria. This study investigated the genetic polymorphism of RB1 susceptibility gene and its involvement in the molecular pathogenesis of retinoblastoma in Calabar. This research was carried out in the University of Calabar Teaching Hospital (UCTH) Calabar, Nigeria. Blood was collected from 9 clinically diagnosed retinoblastoma children, 30 children and 23 adults as controls. DNA was extracted from all the blood samples, PCR was performed yielding a 485bp amplicon that was digested using the M1u CI restriction enzyme. The digested fragments were visualized in 1.5% agarose and the genotype and allele frequency was determined. The genotype frequencies among the retinoblastoma children were 0(0%), 3(33.33%) and 6(66.67%) and in the controls were 0(0%), 13(24.53%) and 40(75.47%) for GG, GA and AA respectively. The G allele was low (0.17and 0.12 in patients and controls). There were no significant differences in the genotypic proportions of the RB1 gene polymorphism among patients and controls. The RB1 gene polymorphism may not be directly involved in the development of retinoblastoma however this requires further investigation.

Keywords: Retinoblastoma, Children, Gene Polymorphism, RB1, Calabar.


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Google Scholar Indian Science Publications InfoBase Index (In Process) SOCOLAR, China Research Bible, Fuchu, Tokyo. JAPAN International Society for Research activity (ISRA) Scientific Indexing Services (SIS) Polish Scholarly Bibliography Global Impact Factor (GIF) (Under Process) Universal Impact Factor International Scientific Indexing (ISI), UAE Index Copernicus CAS (A Division of American Chemical Society) USA (Under Process) Directory of Open Access Journal (DOAJ, Sweden, in process) UDLedge Science Citation Index CiteFactor Directory Of Research Journal Indexing (DRJI) Indian citation Index (ICI) Journal Index (JI, Under Process) Directory of abstract indexing for Journals (DAIJ) Open Access Journals (Under Process) Impact Factor Services For International Journals (IFSIJ) Cosmos Impact Factor Jour Informatics (Under Process) Eurasian Scientific Journal Index (ESJI) International Innovative Journal Impact Factor (IIJIF) Science Library Index, Dubai, United Arab Emirates Pubmed Database [NLM ID: 101669306] (Under Process) IP Indexing (Under Process)