Document Detail

Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia.
MedLine Citation:
PMID:  19608689     Owner:  NLM     Status:  In-Process    
BACKGROUND: Hereditary thrombocythemia is a rare disease characterized by increased megakaryopoiesis and overproduction of platelets. Germ line mutations have been identified in the genes for thrombopoietin (THPO) and its receptor, MPL. A clustering of familial cases with the MPL-G1073A mutation that results in a serine to asparagine substitution (S505N) has been recently reported in Italy. Here we performed haplotype analysis in nine families (eight Italian and one Japanese) with hereditary thrombocythemia carrying the MPL-S505N mutation in the MPL gene.
DESIGN AND METHODS: The MPL gene was examined by genomic DNA sequencing. Haplotype analysis was performed using microsatellites and single nucleotide polymorphisms.
RESULTS: Analysis of microsatellite markers and single nucleotide polymorphisms in the eight Italian families with hereditary thrombocythemia revealed the presence of a common haplotype compatible with a founder effect, which may have originated 23 generations ago. This haplotype was rarely observed in 132 unrelated individuals and was absent in a Japanese family with the MPL-S505N mutation.
CONCLUSIONS: The recurrent MPL-S505N mutation found in the eight Italian families with hereditary thrombocythemia is likely due to a founder effect.
Kun Liu; Maurizio Martini; Bianca Rocca; Christopher I Amos; Luciana Teofili; Fiorina Giona; Jianmin Ding; Hirokazu Komatsu; Luigi M Larocca; Radek C Skoda
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Publication Detail:
Type:  Comparative Study; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't     Date:  2009-07-16
Journal Detail:
Title:  Haematologica     Volume:  94     ISSN:  1592-8721     ISO Abbreviation:  Haematologica     Publication Date:  2009 Oct 
Date Detail:
Created Date:  2009-10-01     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417435     Medline TA:  Haematologica     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  1368-74     Citation Subset:  IM    
Department of Biomedicine, Experimental Hematology, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
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