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Phenotypic and genetic analysis of a compound heterozygote for dys‐ and hypoprothrombinaemia
Author(s) -
Akhavan Sepideh,
Luciani Matteo,
Lavoretano Silvia,
Mannucci Pier Mannuccio
Publication year - 2003
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2003.03986.x
Subject(s) - heterozygote advantage , phenotype , compound heterozygosity , genetics , biology , allele , gene
Summary. We studied a 2‐year‐old boy with a phenotype of combined hypo‐ and dysprothrombinaemia. Sequencing of polymerase‐chain‐reaction‐amplified genomic DNA revealed three different mutations in heterozygosity, a G to A transition at position 7312, resulting in the replacement of arginine 271 by histidine, an A to G transition at position 20058, resulting in the replacement of histidine 562 by arginine, and a 2‐bp deletion at 20062–20063, causing a frameshift and a premature stop codon in exon 14. The first two mutations are compatible with the dysprothrombinaemia phenotype, whereas the small deletion is thought to be the cause of hypoprothrombinaemia.