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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients
Journal of Human Genetics, Volume 52, No. 3, Year 2007
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Description
Megaloblastic anaemia 1 (MGA1) is a rare autosomal recessive condition characterized by selective intestinal vitamin B12 malabsorption and proteinuria. More than 200 MGA1 patients have been identified worldwide, but the disease is relatively prevalent in Finland, Norway and several Eastern Mediterranean regions. MGA1 is genetically heterogeneous and can be caused by mutations in either the cubilin (CUBN) or the amnionless (AMN) gene. In the present study we investigated the molecular defect underlying MGA1 in nine Tunisian patients belonging to six unrelated consanguineous families. Haplotype and linkage analyses, using microsatellite markers surrounding both CUBN and AMN genes, indicated that four out of the six families were likely to be linked to the CUBN gene. Patients from these families were screened for the Finnish, Mediterranean and Arabian mutations already published. None of the screened mutations could be detected in our population. One family showed a linkage to AMN gene. Direct screening of the AMN gene allowed the identification of the c.208-2A>G mutation, previously described in a Jewish Israeli patient of Tunisian origin and in Turkish patients. This suggests that the c.208-2A>G mutation may derive from a single Mediterranean founder ancestor. For the last family, haplotype analysis excluded both CUBN and AMN genes, suggesting the existence of a third locus that may cause MGA1. © 2007 The Japan Society of Human Genetics and Springer.
Authors & Co-Authors
Bouchlaka, Chiraz Souissi
Tunisia, Tunis
Institut Pasteur de Tunis
Maktouf, Chokri
Tunisia, Tunis
Institut Pasteur de Tunis
Mahjoub, Bahri
Tunisia, Mahdia
Chu Tahar Sfar
Ayadi, Abdelkarim
Tunisia, Mahdia
Chu Tahar Sfar
Sfar, Mohammed Tahar
Tunisia, Mahdia
Chu Tahar Sfar
Sioud, Mahbouba
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Gueddich, Neji
Tunisia, Monastir
Chu Fattouma-bourguiba
Belhadjali, Zaher
Tunisia, Tunis
Chu
REBAI, AHMED
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Abdelhak, Sonia
Tunisia, Tunis
Institut Pasteur de Tunis
Dellagi, Koussey
Tunisia, Tunis
Institut Pasteur de Tunis
Statistics
Citations: 18
Authors: 11
Affiliations: 6
Identifiers
Doi:
10.1007/s10038-007-0110-0
ISSN:
14345161
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study