File:Morbus Fabry Genotyping 01.jpg
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English: Genotyping of the GLA gene in heterozygous females: A. Patient CB, a 17-year-old girl, was shown to carry a T to G transversion in exon 6 at position 884 in the cDNA sequence. This nucleotide substitution alters the codon (TTC) for phenylalanine to the codon (TGC) for cysteine at position 295 of the α-galactosidase A protein (p.Phe295Cys). B. Patient ZB, a 46-year-old woman, was shown to carry a T to G transversion in exon 1 at position 125 in the cDNA sequence. This nucleotide substitution alters the codon (ATG) for methionine to the codon (AGG) for arginine at position 42 of the α-galactosidase A protein (p.Met42Arg). C. Patient NL, a 63-year-old woman was shown to carry a G to T transversion in exon 6 at position 982 in the cDNA sequence. This nucleotide substitution alters the codon (GGG) for glycine to the codon (TGG) for tryptophan at position 328 of the α-galactosidase A protein (p.Gly328Trp). Despite scanning of the rest of the gene, no other sequence abnormality was found. Courtesy: Pr Xavier JEUNEMAITRE and Dr Anne-Laure FAURET, HEGP, Paris, France.
Deutsch: Genotypisierung des GLA-Gens in der cDNA von heterozygoten Patienten. A) Ein 17-Jähriges Mädchen das eine Transversion von Thymin nach Guanin in Exon 6, Position 884 aufweist. Diese Nukleotidsubstitution ändert das Codon TTC, das für die Aminosäure Phenylalanine kodiert, in TGC, wodurch Cystein kodiert wird. In dem Genprodukt α-Galactosidase A findet sich daher in Position 295 Cystein statt Phenylanalin. Es liegt eine p.Phe295Cys-Mutation vor. B) Eine 46-jährige Frau, in deren GLA-Gen in Exon 1, Position 125, ebenfalls eine Transversion von T nach G ist. Das ATG-Codon , das für Methionin kodiert, wird daher zu AGG, was für die Aminiosäure Arginin steht, die sich dann nach der Translation in Position 42 der α-Galactosidase A wiederfindet. Es ist eine p.Met42Arg-Mutation. |
| Date | article published: 22 November 2010 [1] |
| Source | D. P. Germain: Fabry disease. In: Orphanet journal of rare diseases Vol. 5, 2010, 30, PMID 21092187. PMC 300961. (Review) |
| Author |
Pr Xavier JEUNEMAITRE and Dr Anne-Laure FAURET, HEGP, Paris, France.   This file is licensed under the Creative Commons Attribution 2.0 Generic license.
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| current | 14:22, 10 September 2011 | | 1,200 × 896 (247 KB) | Kuebi | {{Information |Description={{en|Genotyping of the GLA gene in heterozygous females: A. Patient CB, a 17-year-old girl, was shown to carry a T to G transversion in exon 6 at position 884 in the cDNA sequence. This nucleotide substitution alters the codon ( |
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