Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lysozym

Das LYZ-Gen kodiert Lysozym, ein Enzym, welches für die natürliche Abwehr von bakteriellen Infektionen verantwortlich ist, weil es die Zellwand von verschiedenen Bakterien auflösen kann. Mutationen führen zur autosomal dominanten Erkrankung der vizeralen Amyloidose.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Nierenamyloidose
APOA1
B2M
CST3
FGA
LYZ

Referenzen:

1.

Canet D et al. (1999) Mechanistic studies of the folding of human lysozyme and the origin of amyloidogenic behavior in its disease-related variants.

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2.

Gillmore JD et al. (1999) Hereditary renal amyloidosis associated with variant lysozyme in a large English family.

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3.

Greenwald RA et al. (1975) Composition of cartilage from lysozyme-deficient rabbits.

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4.

Valleix S et al. (2002) Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.

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5.

Granel B et al. (2002) A family with gastrointestinal amyloidosis associated with variant lysozyme.

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6.

Yazaki M et al. (2003) A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis.

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7.

Dumoulin M et al. (2003) A camelid antibody fragment inhibits the formation of amyloid fibrils by human lysozyme.

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8.

Granel B et al. (2005) Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.

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9.

Granel B et al. (2006) Lysozyme amyloidosis: report of 4 cases and a review of the literature.

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10.

Zalin AM et al. (1991) Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.

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11.

Taniyama Y et al. (1991) Evidence for intramolecular disulfide bond shuffling in the folding of mutant human lysozyme.

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12.

Cámara VM et al. (1990) Inherited lysozyme deficiency in rabbits. The absence of a primary isozyme of lysozyme as the cause of the condition.

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13.

Yoshimura K et al. (1988) Human lysozyme: sequencing of a cDNA, and expression and secretion by Saccharomyces cerevisiae.

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14.

Prieur DJ et al. (1974) Lysozyme deficiency-an inherited disorder of rabbits.

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15.

Pepys MB et al. (1993) Human lysozyme gene mutations cause hereditary systemic amyloidosis.

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16.

Harrison RF et al. (1996) 'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.

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