elliptocytosis type 3

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elliptocytosis type 3

A Rhesus-unlinked form (OMIM:182870) of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant haematologic disorder characterised by variable haemolytic anaemia and elliptical or oval red cells.
 
Molecular pathology
Caused by defects of SPTB, which encodes beta spectrin, a major constituent of the cytoskeletal network underlying the red cell plasma membrane.
References in periodicals archive ?
The unconventional filter mask showed promise and was further developed into two models--the E12 for rapid donning and the El3 with detachable filters.
PCR products for T59G and C314T were obtained with the primer pairs VE1 mms/EL3as (5'ccatggcgccgctgtctggccgccc-3'/5'-gggagtggtgtcctgtcgggag- gacccact-3') (8) and EL3 s/VE4as (5'-agtgggtcctccccgacaggacaccactcc-3'/5'gttggacatgatatcccagtggtgcacgat-3') (8) and cleaved with restriction enzymes Msp1 and NIaIII.
For the performance of PCR-cleavage reactions for the mutations T59G and C314T, the sequences of the sense and antisense oligonucleotide primers, the annealing temperature of the PCR reactions, the sizes of the products obtained, and the restriction enzymes used for the cleavage of the PCR products, respectively, were as follows: T59G, VE1 mms/ EL3as X71 (5'-ccatggcgccgctgtctggccgccc-3'/5'-gggagtggt-gtcctgtcgggaggacccact-3'), 65 [degrees]C, 140, MspI; and C314T, EL3 s X71/VE4as (5'-agtgggtcctccccgacaggacaccactcc-3'/ 5'-gttggacatgatatcccagtggtgcacgat-3'), 63 [degrees]C, 204, NlaIII.