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- Publisher
- Wiley
- Copyright
- Copyright © 1998 Wiley Subscription Services
- ISSN
- 0007-1048
- eISSN
- 1365-2141
- DOI
- 10.1046/j.1365-2141.1998.01013.x
- Publisher site
- See Article on Publisher Site
Abstract
The PK‐LR gene has been studied in 12 unrelated patients with red cell pyruvate kinase deficiency and hereditary nonspherocytic haemolytic anaemia (CNSHA). The entire codifying region of the R‐type PK gene and the flanking intronic regions were analysed by single‐stranded conformation polymorphism (SSCP) followed by direct sequencing of abnormal DNA. 10 different mutations were identified in 22/24 alleles at risk. Eight of these were missense mutations that caused the following single amino acid changes: G514C (172Glu‐Gln), G1010A (337Arg‐Gln), G1015C (339Asp‐Gln), T1070C (357Ile‐Thr), C1223T (408Thr‐Ile), G1291A (431Ala‐Thr), C1456T (486Arg‐Trp) and G1595A (532Arg‐Gln). Two were nonsense mutations: G721T (241Glu‐Stop) and C1675T (559Arg‐Stop). 7/22 alleles demonstrated the same C1456→ T mutation. The study of the polymorphic site at nucleotide (nt) 1705 performed in all cases disclosed a 1705 C/C mutation in 10 and a 1705 A/C mutation in three.
Journal
British Journal of Haematology – Wiley
Published: Jan 1, 1998
Keywords: ; ; ; ;