作者
Alberto Zanella, Paola Bianchi, Luciano Baronciani, Manuela Zappa, Elena Bredi, Cristina Vercellati, Fiorella Alfinito, Giovanni Pelissero, Girolamo Sirchia
发表日期
1997/5/15
期刊
Blood, The Journal of the American Society of Hematology
卷号
89
期号
10
页码范围
3847-3852
出版商
American Society of Hematology
简介
We studied the PK-LR gene in 15 unrelated Italian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase (PK) deficiency. Fourteen different mutations were detected among 26 mutated alleles identified: a five-nucleotide (nt) deletion (227 to 231), two splice-site (1269C and IVS3(−2)c), 10 missense (514C, 787T, 823A, 993A, 994A, 1168A, 1456T, 1529A, 1552A, and 1594T) and one nonsense mutation(s) (721T). Eight of these (deletion 227-231, 1269C, IVS3(−2)c, 514C, 787T, 823A, 1168A, and 1552A) were novel. Moreover, a new polymorphic site was detected in the 3′ untranslated region of the mRNA (C/T, nucleotide 1738). The deletion 227-231 causes a stop codon after amino acid 77, probably resulting in an unstable gene product. Mutations 1269C and IVS3(−2)c lead to an alteration of the 5′ and 3′ splice-site consensus sequence, respectively; cDNA analysis failed …
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A Zanella, P Bianchi, L Baronciani, M Zappa, E Bredi… - Blood, The Journal of the American Society of …, 1997