Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Concerning the signals which direct excision of introns from mRNA precursors in higher eukaryotic genes, consensus 9-nucleotide sequence, (CA)AG/GT(AG)AGT, has been proposed with the 5'-splice site, but actual 5'-splice site sequences differ from it in a greater or lesser degree. We analyzed 5'-splice site sequence of human beta-globin gene by quantification method (categorical discriminant analysis) proposed previously. Analysis of 13-nucleotide sequences and deleted sequences showed that 9-nucleotide sequences in the consensus region are almost sufficient to define 5'-splice signal. To confirm this view, we examined a number of beta-globin mutant genes, where nucleotide changes occur at the authentic 5'-splice site of the first intron and cause beta-thalassemia phenotype. Our method could explain why such mutations abolish the 5'-splice site and cryptic 5'-splice sites are activated.
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PMID:Quantification analysis of 5'-splice signal sequences in mRNA precursors. Mutations in 5'-splice signal sequence of human beta-globin gene and beta-thalassemia. 224

We report the characterization of five novel delta-globin gene mutations detected during routine screening for thalassemia. Three missense mutations were identified, resulting in the following delta chain hemoglobin (Hb) variants: Hb A(2)-Acacias [delta4 (ACT>AGT), Thr-->Ser, HBD c.14C>G], Hb A(2)-Toronto [delta74 (GGC>GAC), Gly-->Asp, HBD c.224G>A], and Hb A(2)-Calgary [delta99 (GAT>GGT), Asp-->Gly, HBD c.299A>G]. Two other mutations most likely result in delta(0)-thalassemia (delta(0)-thal). One mutation altered the translation initiation codon from ATG to ATA (HBD c.3G>A), and another changed the canonical splice donor sequence of IVS-II from GT to AT (HBD C.315+1G>A).
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PMID:Characterization of three novel delta chain hemoglobin variants and two delta-thalassemia alleles. 2064 35