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Difficulties in Mutation Screening of the Plasminogen (PLG) Gene in Patients With Ligneous Conjunctivitis and Severe Hypoplasminogenemia
Katrin Tefs, PhD;
Louise Kobelt;
Maike Ziegler;
Boris Hügle, MD;
Volker Schuster, MD
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Leyva-Castillo et al1 described a Mexican patient with ligneous conjunctivitis. Hemostaseologic studies revealed severe hypoplasminogenemia (type I plasminogen deficiency). Mutation screening of the plasminogen (PLG) gene (chromosome 6q26) suggested a 14–base pair deletion in exon 5 of the PLG gene (deleted sequence, GAACTACTGCAGGA). However, this deletion has already been described before as the result of a methodical error: accidental coamplification of sequences of the plasminogen-related gene B (NCBI accession number AC093616.5) located on chromosome 2.2-3 Furthermore, polymerase chain reaction amplification of PLG gene exons 1, 3, 4, 5, 13, 16, and 17 may lead to "false" distinct nucleotide exchanges owing to coamplified PLG homologous genes.3 Optimizing polymerase chain reaction conditions by, for example, increasing the annealing temperature or changing the primers will probably lead to the disappearance of the alleged deletion and false nucleotide exchanges.3-4 . . . [Full Text of this Article] AUTHOR INFORMATION
RELATED LETTER
Difficulties in Mutation Screening of the Plasminogen (PLG) Gene in Patients With Ligneous Conjunctivitis and Severe Hypoplasminogenemia—Reply
Juan M. Leyva-Castillo, Humberto Cavazos-Adame, Augusto Rojas-Martínez, Martín César Fernández-Espinoza, and Rocío Ortiz-López
Arch Ophthalmol. 2007;125(9):1303.
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RELATED ARTICLE
Ligneous Conjunctivitis in a Mexican Patient With a Mutation in the Plasminogen (PLG) Gene
Juan M. Leyva-Castillo, Humberto Cavazos-Adame, Augusto Rojas-Martínez, Roberto López-Garza, Martin Cesar Fernandez Espinoza, and Rocío Ortiz-López
Arch Ophthalmol. 2006;124(10):1500-1501.
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