Plasminogen deficiency is a rare disease characterized by ligneous conjunctivitis and infections. We observed a 3-year-old Italian boy presenting ligneous conjunctivitis and low plasma levels of plasminogen. Twenty-three different mutations on the PLG gene have been reported to date, but mutation analysis had been troublesome for the presence of highly homologous genes. The aim of the study was to identify the underlying mutation avoiding coamplification of unwanted genetic materials using a long polymerase chain reaction strategy, instead of the previously reported subcloning methods. By this simple strategy the complete sequence analysis of PLG gene was performed, and a previously reported missense homozygous mutation (K19E) was identified.

Molecular characterization of an Italian patient with plasminogen deficiency and ligneous conjunctivitis / S.M. Siboni, M. Spreafico, M. Menegatti, I. Martinelli, F. Peyvandi. - In: BLOOD COAGULATION & FIBRINOLYSIS. - ISSN 0957-5235. - 18:1(2007 Jan), pp. 81-84.

Molecular characterization of an Italian patient with plasminogen deficiency and ligneous conjunctivitis

S.M. Siboni
Primo
;
M. Spreafico
Secondo
;
M. Menegatti;F. Peyvandi
Ultimo
2007-01

Abstract

Plasminogen deficiency is a rare disease characterized by ligneous conjunctivitis and infections. We observed a 3-year-old Italian boy presenting ligneous conjunctivitis and low plasma levels of plasminogen. Twenty-three different mutations on the PLG gene have been reported to date, but mutation analysis had been troublesome for the presence of highly homologous genes. The aim of the study was to identify the underlying mutation avoiding coamplification of unwanted genetic materials using a long polymerase chain reaction strategy, instead of the previously reported subcloning methods. By this simple strategy the complete sequence analysis of PLG gene was performed, and a previously reported missense homozygous mutation (K19E) was identified.
ligneous conjunctivitis ; long polymerase chain reaction ; plasminogen deficiency ; plasminogen-related genes ; PLG mutations
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/52683
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