Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Cholesterinester-Transferprotein

Das CETP-Gen kodiert das Cholesterinester-Transferprotein, ein Enzym welches für den Austausch von Cholesterinestern unter den Lipoproteinen verantwortlich ist. Dominante und rezessive Mutationen führen zur Hyperalphalipoproteinämie Typ 1, einem Zustand der durch eine besonders geringe Anfälligkeit gegenüber arteriosklerotischen Erkrankungen gekennzeichnet ist und ein besonders hohes Lebensalter der Betroffenen zur Folge hat.

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:

Hyperalphalipoproteinämie 1
CETP
Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

Referenzen:

1.

Gautier T et al. (2002) Apolipoprotein CI deficiency markedly augments plasma lipoprotein changes mediated by human cholesteryl ester transfer protein (CETP) in CETP transgenic/ApoCI-knocked out mice.

[^]
2.

Herrera VL et al. (1999) Spontaneous combined hyperlipidemia, coronary heart disease and decreased survival in Dahl salt-sensitive hypertensive rats transgenic for human cholesteryl ester transfer protein.

[^]
3.

Okamoto H et al. (2000) A cholesteryl ester transfer protein inhibitor attenuates atherosclerosis in rabbits.

[^]
4.

Barzilai N et al. (2003) Unique lipoprotein phenotype and genotype associated with exceptional longevity.

[^]
5.

Barzilai N et al. (2006) A genotype of exceptional longevity is associated with preservation of cognitive function.

[^]
6.

Spirin V et al. (2007) Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.

[^]
7.

Sanders AE et al. (2010) Association of a functional polymorphism in the cholesteryl ester transfer protein (CETP) gene with memory decline and incidence of dementia.

[^]
8.

Inazu A et al. (1990) Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation.

[^]
9.

Yamashita S et al. (1990) Total deficiency of plasma cholesteryl ester transfer protein in subjects homozygous and heterozygous for the intron 14 splicing defect.

[^]
10.

Brown ML et al. (1989) Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins.

[^]
11.

Drayna D et al. (1987) Multiple RFLPs at the human cholesteryl ester transfer protein (CETP) locus.

[^]
12.

Lusis AJ et al. (1987) Assignment of the human gene for cholesteryl ester transfer protein to chromosome 16q12-16q21.

[^]
13.

Drayna D et al. () Cloning and sequencing of human cholesteryl ester transfer protein cDNA.

[^]
14.

Saito F et al. (1984) A pedigree of homozygous familial hyperalphalipoproteinemia.

[^]
15.

Sakai N et al. (1995) Frequency of exon 15 missense mutation (442D:G) in cholesteryl ester transfer protein gene in hyperalphalipoproteinemic Japanese subjects.

[^]
16.

Inazu A et al. (1994) Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol.

[^]
17.

Akita H et al. (1994) Cholesteryl ester transfer protein gene: two common mutations and their effect on plasma high-density lipoprotein cholesterol content.

[^]
18.

Day JR et al. (1994) Complete cDNA encoding human phospholipid transfer protein from human endothelial cells.

[^]
19.

Takahashi K et al. (1993) A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins.

[^]
20.

Oliveira HC et al. (1996) Human cholesteryl ester transfer protein gene proximal promoter contains dietary cholesterol positive responsive elements and mediates expression in small intestine and periphery while predominant liver and spleen expression is controlled by 5'-distal sequences. Cis-acting sequences mapped in transgenic mice.

[^]
21.

Kuivenhoven JA et al. (1998) The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group.

[^]

 

 
Ihre Nachricht: