Rokhaya Ndiaye Diallo
Rokhaya Ndiaye Diallo
Ass. Professor in Human Genetics, at the Department of Pharmacy of the Faculty of Medicine, Pharmacy and Odontology of University Cheikh Anta Diop of Dakar, Senegal.
Prof. Rokhaya is an associate professor in Human Genetics, at the Department of Pharmacy of the Faculty of Medicine, Pharmacy and Odontology of University Cheikh Anta Diop of Dakar, Senegal. After a PharmD training at University Cheikh Anta Diop of Dakar, Pr Ndiaye completed a PhD thesis in human genetics in 2014 at Paris 7 University, France. She was awarded in 2010 a Fullbright senior scholar fellowship in the Department of Pathology of University of Washington, Seattle. Her research interests focused on the role of genetic variation in cancer susceptibility and genetic basis of single gene disorders in African populations. Her current research projects focused on breast/ovarian cancers, head and neck cancer and Mendelian diseases such as Albinism. She is the General Secretary of the Senegalese Society of Human Genetics (S2GH) and membership secretary of the African Society of Human Genetics (AfSHG).
Title of the talk: Genetic Diversity of Albinism in Senegal
NDIAYE DIALLO R.1,2 MBAYE S.1, DIOP JPD.1,2, DIA Y. 2, DIOP AB.3, LY F.4, DEM A.5, MBENGUE B.6, GUEYE PM.2, CISSE A.2, LOPEZ-SALL P.2, FAYE O.1, DIOP PA.2, DIEYE A.6
1Laboratory of Clinical Cytology, Cytogenetics, Biology of Reproduction and Development, Aristide Le Dantec Hospital, 2 Laboratory of Pharmaceutical Biochemistry, FMPO, UCAD, 3 Senegalese Association of Albinos, 4 Institute of Social Hygiene, Dakar 5Joliot Curie Institute, Hospital Aristide Le Dantec, 6 Department of Immunology, FMPO, UCAD
Albinism is a hereditary condition characterized by reduction in melanin synthesis. Melanin determines pigmentation of the skin, hair, eyes and protects against UV rays. There is three types of albinism : ocular albinism, oculo-cutaneous albinism (OCA most frequent) and syndromic albinism. Nineteen genes have been shown to be involved in albinism with geographic variability of mutations. Our objectives to study albinism in Senegal were: 1. To investigate the prevalence of the 2.7kb deletion of OCA2 gene reported in Cameroon. 2. To screen for mutations in a gene panel for albinism. Following informed consent, 10 people with albinism were recruited in collaboration with the Senegalese Association of Albinos. Socio-demographic data were collected using a questionnaire and blood samples collected for DNA extraction. The 2.1kb deletion of OCA2 gene was screened by PCR. Mutation screening of the gene panel was done by NGS in collaboration with the Laboratory of Medical Genetics of Pellegrin Hospital at Bordeaux. Our results showed genetic diversity in Senegalese Albinos. The 2.7 kb deletion reported in Cameroon was absent. Mutation screening in the gene panel identified one individual with Hermanski Pudlack type 1 syndrome and 6 with ocular cutaneous albinism (OCA). Five of the OCA individuals had deleterious homozygous or hetereoygous composite mutations in exon 8, 21 or 23 of OCA2 gene, while one had ocular cutanous albinisme type 4 with a mutation in exon 1 of SLC45A2 gene. These results highlighted the genetic variability of albinism in different regions of Africa.
Key words: Albinism, OCA2 gene 2.1kb deletion, gene panel, mutation, Senegal