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News:
Molecular Genetics - Metabolic Disorders
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disease
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OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
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Metabolic Disorders
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Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
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Familial intrahepatic cholestasis
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Benign recurrent intrahepatic cholestasis (BRIC1, BRIC2)
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18q21
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2q24
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Intrahepatic cholestasis of pregnancy)
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7q21.1
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18q21
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Progressive low γ-GT familial intrahepatic cholestasis (PFIC1, PFIC2, PFIC3)
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18q21
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2q24
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7q21.1
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thrombophilia (4 Mutations):
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Factor V-Leiden Mutation (1691G>A)
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F5:
1691G>A
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1q23
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MTHFR 677C>T
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MTHFR:
677C>T
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1p36.3
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MTHFR 1298A>C
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MTHFR:
1298A>C
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1p36.3
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Prothrombin Mutation (20210G>A)
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F2:
20210G>A
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11p11-q12
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Other
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Glucose-6-Phosphate Dehydrogenase Deficiency
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Xq28
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Cystic Fibrosis
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CFTR
(36 Mutationen / S)
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7q31.2
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Surfactant metabolism dysfunction-3 (SMDP3)
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16p13.3
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¹
Routinely analysis is performed by sequencing, additional methods are indicated as follows:
FISH
Fluorescence in situ Hybridisation
FI
3 kb-founder-insertion