Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hepatische Lipase

Das LIPC-Gen kodiert die hepatische Lipase. Ein Enzym, das nicht nur an der Hydrolyse der Triglyceride vornimmt, sondern auch an an der Aufnahme der Lipoproteine beteiligt ist. Mutationen führen zur Hypertriglyceridämie.

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:

Hypertriglyceridämie
APOA5
APOE
GPIHBP1
Kombinierter Lipasemangel
LMF1
LIPC
LIPE
LPL
Veranlagung für hohe Triglyceridwerte
ANGPTL4
Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LPL
RXRG
USF1

Referenzen:

1.

Ruel IL et al. (2003) Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians.

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2.

Todorova B et al. (2004) The G-250A promoter polymorphism of the hepatic lipase gene predicts the conversion from impaired glucose tolerance to type 2 diabetes mellitus: the Finnish Diabetes Prevention Study.

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3.

Brown RJ et al. (2004) Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan.

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4.

Isaacs A et al. (2004) The -514 C->T hepatic lipase promoter region polymorphism and plasma lipids: a meta-analysis.

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5.

González-Navarro H et al. (2004) The ligand-binding function of hepatic lipase modulates the development of atherosclerosis in transgenic mice.

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6.

Hegele RA et al. (1991) A hepatic lipase gene mutation associated with heritable lipolytic deficiency.

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7.

Iijima H et al. (2008) Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations.

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8.

Grarup N et al. (2008) The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects.

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9.

Hegele RA et al. (1991) Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency.

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10.

Davis RC et. al. (1990) Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion.

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11.

Ameis D et al. (1990) Isolation and characterization of the human hepatic lipase gene.

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12.

Datta S et al. (1988) Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase.

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13.

Heinzmann C et al. (1988) Two polymorphisms for the human hepatic lipase (HL) gene.

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14.

Cai SJ et al. (1989) Structure of the human hepatic triglyceride lipase gene.

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15.

Martin GA et al. (1988) Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase.

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16.

Sparkes RS et. al. (1987) Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21.

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