RGD Reference Report - Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. - Rat Genome Database

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Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.

Authors: Maciag, M  Plochocka, D  Adamowicz-Salach, A  Burzynska, B 
Citation: Maciag M, etal., Br J Haematol. 2009 Aug;146(3):326-32. doi: 10.1111/j.1365-2141.2009.07759.x. Epub 2009 Jun 15.
RGD ID: 11059526
Pubmed: (View Article at PubMed) PMID:19538529
DOI: Full-text: DOI:10.1111/j.1365-2141.2009.07759.x

Hereditary spherocytosis (HS) is one of the most frequent and heterogeneous inherited haemolytic anaemias. It is associated with abnormalities of several erythrocyte membrane proteins. We investigated relative mRNA quantification of red blood cell membrane protein genes using real-time quantitative polymerase chain reaction (qPCR) in order to better characterize HS cases and to select genes to search for mutations in patients with spherocytosis. qPCR experiments indicated that the spectrin beta gene (SPTB) could be involved in anaemia pathogenesis. DNA analysis of SPTB in the HS subjects with decreased SPTB mRNA levels revealed the presence of five previously undescribed mutations: R1756X, 781delT and IVS22nt-4G>A, 1502insA and IVS20nt-2A>G.

Annotation

Disease Annotations    
hereditary spherocytosis  (IAGP,IEP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Sptb  (spectrin, beta, erythrocytic)

Genes (Mus musculus)
Sptb  (spectrin beta, erythrocytic)

Genes (Homo sapiens)
SPTB  (spectrin beta, erythrocytic)


Additional Information