Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Renin-Gen

Das Gen kodiert Renin, einem wichtigen Aktivator des Angiotensinogens. Neben dieser Blutdruck und den Salzhaushalt regulierenden Funktion hat das Renin noch eine wichtige steuernde Funktion bei der ontogenetischen Entwicklung der Niere. Mutationen können deshalb zu einem breiten Spektrum dominanter oder rezessiver Erkrankungen der Blutdruckregulation oder Nierenfehlbildungen führen.

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:

Benigne Hyperproreninämie
REN
Renotubuläre Dysgenesie
ACE
AGT
AGTR1
REN
Juvenile hyperuricämische Nephropathie Typ 2
REN
Autosomal dominante tubulointerstitielle Nierenerkrankung (ADTKD)
HNF1B
MUC1
REN
SEC61A1
UMOD

Referenzen:

1.

Gribouval O et al. (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.

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2.

Youssoufian H et al. (1988) Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.

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3.

Frossard PM et al. (1999) Human renin gene BglI dimorphism associated with hypertension in two independent populations.

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4.

Nguyen G et al. (2002) Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin.

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5.

Stibůrková B et. al. (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

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6.

Jeunemaitre X et al. (1992) Sib pair linkage analysis of renin gene haplotypes in human essential hypertension.

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7.

Caron KM et al. (2004) Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene.

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8.

Pravenec M et al. (1991) The rat renin gene: assignment to chromosome 13 and linkage to the regulation of blood pressure.

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9.

Yokota H et al. (2007) Prorenin levels in retinopathy of prematurity.

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10.

Zivná M et. al. (2009) Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

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11.

van Hooft IM et al. (1991) Renal hemodynamics and the renin-angiotensin-aldosterone system in normotensive subjects with hypertensive and normotensive parents.

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12.

Mullins JJ et al. (1990) Fulminant hypertension in transgenic rats harbouring the mouse Ren-2 gene.

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13.

Rouleau GA et al. (1990) A genetic map of chromosome 1: comparison of different data sets and linkage programs.

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14.

Rapp JP et al. (1989) A genetic polymorphism in the renin gene of Dahl rats cosegregates with blood pressure.

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15.

Naftilan AJ et al. (1989) A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension.

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16.

Abel KJ et al. (1988) Close physical linkage of the murine Ren-1 and Ren-2 loci.

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17.

Morris BJ et al. (1988) Frequency in hypertensives of alleles for a RFLP associated with the renin gene.

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18.

Pratt RE et al. (1988) Different secretory pathways of renin from mouse cells transfected with the human renin gene.

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19.

Masharani U et al. (1988) MboI RFLP at the human renin (ren) gene locus.

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20.

Nakai H et al. (1988) Human renin gene assigned to chromosome band 1q42 by in situ hybridization.

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21.

McGill JR et al. (1987) Chromosome localization of the human renin gene (REN) by in situ hybridization.

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22.

Griffiths LR et al. (1987) Regional chromosomal assignment of human renin gene to 1q12----qter and use in linkage studies in Charcot-Marie-Tooth disease.

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23.

Frossard PM et al. (1986) Two RFLPs at the human renin (ren) gene locus.

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24.

Fritz LC et al. (1986) Characterization of human prorenin expressed in mammalian cells from cloned cDNA.

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25.

Field LJ et al. (1985) Ren-1 and Ren-2 loci are expressed in mouse kidney.

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26.

Hobart PM et al. (1984) Human renin gene: structure and sequence analysis.

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27.

Miyazaki H et al. (1984) Structure of the human renin gene.

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28.

Chirgwin JM et al. (1984) Mouse kidney renin gene is on chromosome one.

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29.

Imai T et al. (1983) Cloning and sequence analysis of cDNA for human renin precursor.

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30.

Hardman JA et al. (1984) Primary structure of the human renin gene.

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31.

Villard E et al. (1994) A mutant renin gene in familial elevation of prorenin.

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32.

Qin H et al. () Reassignment of human renin gene to chromosome 1q32 in studies of a (1;4)(q42;p16) translocation.

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33.

Peters J et al. (1993) Increased adrenal renin in transgenic hypertensive rats, TGR(mREN2)27, and its regulation by cAMP, angiotensin II, and calcium.

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34.

Kurtz TW et al. (1993) Transgenic models of hypertension: useful tools or unusual toys?

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