Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kaliumkanal Subfamilie T Mitglied 2

Das KCNT2-Gen welches sich unmittelbar vor dem CFH-Cluster befindet wurde mit der altersabhängigen Makuladegeneration in Zusammenhang gebracht.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Altersabhängige Makuladegeneration 01
APOE
ARMS2
C2
C3
CFH
CFHR1
CFHR3
KCNT2

Referenzen:

1.

Maller J et. al. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

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2.

Bergeron-Sawitzke J et. al. (2009) Multilocus analysis of age-related macular degeneration.

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3.

Naj AC et. al. (2013) Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.

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4.

Majewski J et. al. (2003) Age-related macular degeneration--a genome scan in extended families.

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5.

Seddon JM et. al. (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.

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6.

Bhattacharjee A et. al. (2003) Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP.

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7.

Kenealy SJ et. al. (2004) Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.

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8.

Weeks DE et. al. (2004) Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.

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9.

Fisher SA et. al. (2005) Meta-analysis of genome scans of age-related macular degeneration.

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10.

Jakobsdottir J et. al. (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26.

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11.

Rivera A et. al. (2005) Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.

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12.

Schmidt S et. al. (2006) Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.

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13.

Conley YP et. al. (2006) CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.

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14.

Dewan A et. al. (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration.

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15.

Schaumberg DA et. al. (2007) A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors.

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16.

Kanda A et. al. (2007) A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.

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17.

Fritsche LG et. al. (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.

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18.

Francis PJ et. al. (2008) Rhesus monkeys and humans share common susceptibility genes for age-related macular disease.

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19.

Ho L et. al. (2011) Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study.

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20.

Fritsche LG et. al. (2013) Seven new loci associated with age-related macular degeneration.

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