Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Gewebsunspezifische alkalische Phosphatase

Das ALPL-Gen kodiert die gewebsunspezifische alkalische Phosphatase. Mutationen dieses Gens sind für die verschiedenen Formen der autosomal rezessiven und dominanten Hypophosphatasie verantwortlich. In epidemiologischen Studien wurde auch eine Assoziation dieses Locus zur Nephrolithiasis gesehen.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Adulte Hypophosphatasie
ALPL
Kindliche Hypophosphatasie
ALPL
Infantile Hypophosphatasie
ALPL
Odontohypophosphatasie
ALPL
Prädisposition zur Urolithiasis
ALPL
CASR
SLC26A1
TRPV5
ZNF365

Referenzen:

1.

Macfarlane JD et al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships.

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2.

Henthorn PS et al. (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

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3.

Moore CA et al. (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families.

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4.

Hu JC et al. (2000) Characterization of a family with dominant hypophosphatasia.

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5.

Lia-Baldini AS et al. (2001) A molecular approach to dominance in hypophosphatasia.

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6.

Herasse M et al. (2003) Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.

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7.

Whyte MP et al. (2007) Adult hypophosphatasia treated with teriparatide.

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8.

Greenberg CR et al. (1993) A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.

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9.

Litmanovitz et al. (2002) Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.

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10.

Stevenson DA et al. (2008) Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

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11.

Zurutuza L et al. (1999) Correlations of genotype and phenotype in hypophosphatasia.

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12.

Weiss MJ et al. (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

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13.

Henthorn PS et al. (1992) Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.

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14.

Fedde KN et al. (1990) Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study.

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15.

Matsuura S et al. (1990) Characterization of a 5'-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of mRNA from a single gene.

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16.

Weiss MJ et al. (1988) Structure of the human liver/bone/kidney alkaline phosphatase gene.

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17.

Whyte MP et al. (1988) Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.

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18.

Smith M et al. (1988) Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34.

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19.

Swallow DM et al. (1986) Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1.

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20.

Hua JC et al. (1986) Partial sequencing of human adult, human fetal, and bovine intestinal alkaline phosphatases: comparison with the human placental and liver isozymes.

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21.

Weiss MJ et al. (1986) Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase.

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22.

Harris H et al. (1974) The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man.

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23.

Goldstein DJ et al. (1980) Expression of alkaline phosphatase loci in mammalian tissues.

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24.

Waymire KG et al. (1995) Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

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25.

Orimo H et al. (1994) Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.

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26.

Ozono K et al. (1996) Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.

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27.

Mornet E et al. () Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

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28.

Goseki-Sone M et al. (1998) Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients.

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29.

None (2000) Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.

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30.

Sergi C et al. (2001) Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.

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31.

Hérasse M et al. (2002) Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.

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32.

Lia-Baldini AS et al. (2008) A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

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33.

OMIM.ORG article

Omim 171760 [^]
34.

Orphanet article

Orphanet ID 119640 [^]
35.

NCBI article

NCBI 249 [^]
Update: 9. Mai 2019