Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
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:

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) Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.

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3.

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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4.

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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5.

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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6.

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

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7.

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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8.

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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9.

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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10.

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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11.

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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12.

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

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13.

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

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14.

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

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15.

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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16.

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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17.

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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18.

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

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19.

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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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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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27.

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

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28.

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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29.

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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30.

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

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31.

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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32.

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

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