Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lecithin-cholesterol-Acyltransferase

Das Gen LCAT kodiert ein gleichnamiges Enzym welches durch die Bildung von Cholesterinestern am reversen Cholesterintransport beteiligt ist. Funktionsmindernde Mutationen sind für die Entwicklung der Norum- und der Fischaugen-Erkrankung verantwortlich.

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:

Norum-Krankheit
LCAT
Fischaugen-Erkrankung
LCAT
Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

Referenzen:

1.

Jonas A et al. (2000) Lecithin cholesterol acyltransferase.

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2.

Kinoshita M et al. (2001) [LCAT (lecithin:cholesterol acyltransferase)].

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3.

Skretting G et al. (1992) The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.

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4.

Skretting G et al. (1992) An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.

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5.

Bujo H et al. (1991) Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease.

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6.

Gotoda T et al. (1991) Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.

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7.

Královicová J et al. (2006) Phenotypic consequences of branch point substitutions.

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8.

Klein HG et al. (1992) Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).

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9.

Maeda E et al. (1991) Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene.

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10.

Funke H et al. (1991) A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.

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11.

Taramelli R et al. (1990) Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.

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12.

Scherer G et al. (1989) Gene mapping on mouse chromosome 8 by interspecific crosses: new data on a linkage group conserved on human chromosome 16q.

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13.

Humphries SE et al. (1988) A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency.

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14.

McLean J et al. (1986) Cloning and expression of human lecithin-cholesterol acyltransferase cDNA.

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15.

Azoulay M et al. (1987) The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22.

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16.

McLean J et al. (1986) Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression.

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17.

Norum KR et al. (1974) Lecithin: cholesterol acyltransferase recent research on biochemistry and physiology of the enzyme.

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18.

Norum KR et al. (1967) Familial serum-cholesterol esterification failure. A new inborn error of metabolism.

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19.

Vergani C et al. (1983) A new case of familial LCAT deficiency.

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20.

Frohlich J et al. (1982) Lecithin: cholesterol acyl transferase (LCAT).

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21.

Teisberg P et al. (1975) Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.

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22.

Klein HG et al. (1993) Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.

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23.

Funke H et al. (1993) Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.

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24.

Kuivenhoven JA et al. (1995) A unique genetic and biochemical presentation of fish-eye disease.

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25.

Kuivenhoven JA et al. (1996) An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).

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