Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

ATP-abhängiges Transportprotein G8

Das ABCG8-Gen befindet sich in einer Kopf-an-Kopf-Position zum ABCG5-Gen. Beide nutzen offensichtlich den selben Promotor und kodieren Transportproteine mit ähnlicher Funktion. Sie sind für die Exkretion von pflanzlichen Sterolen sowohl in die Gallenflüssigkeit wie auch in den Darm verantwortlich. Mutationen können zu den autosomal rezessiven Erkrankungen Sitosterolämia und Mediterrane Makrothrombozytopenie führen.

Diagnostik:

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

Krankheiten:

Sitosterolämia
ABCG5
ABCG8
Mediterrane Makrothrombozytopenie
ABCG5
ABCG8

Referenzen:

1.

Odievre M et. al. (1975) [Fructose 1,6-diphosphatase deficiency in 2 sisters].

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2.

Moses SW et. al. (1991) Fructose-1,6-diphosphatase deficiency in Israel.

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3.

Bührdel P et. al. (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.

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4.

Beaty TH et. al. (1986) Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.

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5.

Baker L et. al. (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

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6.

Sia CL et. al. (1969) Studies on the subunit structure of rabbit liver fructose diphosphatase.

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7.

Melancon SB et. al. (1972) Detection of fructose-6,-diphosphatase deficiency with use of white blood cells.

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8.

Baerlocher K et. al. (1971) Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency.

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9.

Pagliara AS et. al. (1972) Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.

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10.

Greene HL et. al. (1972) "Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid.

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11.

Bhattacharyya AK et. al. (1974) Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters.

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12.

Kwiterovich PO et. al. (1981) Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia.

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13.

el-Maghrabi MR et. al. (1995) Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.

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14.

Kikawa Y et. al. (1995) Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.

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15.

Besley GT et. al. (1994) Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.

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16.

Rothschild CB et. al. (1995) Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.

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17.

Kikawa Y et. al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

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18.

Tillmann H et. al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.

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19.

Berge KE et. al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

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20.

Lee MH et. al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

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21.

Lu K et. al. (2001) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

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22.

Repa JJ et. al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

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23.

Lu K et. al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

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24.

Matsuura T et. al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

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25.

Yu L et. al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.

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26.

Sehayek E et. al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.

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27.

None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.

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28.

Yang C et. al. (2004) Disruption of cholesterol homeostasis by plant sterols.

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29.

Solcà C et. al. (2005) Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

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30.

Rees DC et. al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

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31.

Buch S et. al. (2007) A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

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32.

Mannucci L et. al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

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33.

Rios J et. al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

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34.

Chong JX et. al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

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35.

Li B et. al. (2014) Fructose-1,6-bisphosphatase opposes renal carcinoma progression.

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