Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Immunoglobulin-Superfamilie Mitglied 1

Das IGSF1-Gen kodiert eine Rezeptorprotein in der Hypophyse. Mutationen sind für die x-chromosomale zentrale Hypothyreose und Makroorchidie verantwortlich.

Diagnostik:

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

Krankheiten:

Zentrale Hypothyreose und Makroorchidie
IGSF1

Referenzen:

1.

Frattini A et. al. (1996) Computer gene mapping by Eagl-based STSs.

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2.

Nagase T et. al. (1997) Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

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3.

Mazzarella R et. al. (1998) Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25.

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4.

Frattini A et. al. (1998) Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25.

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5.

Bernard DJ et. al. (2003) Normal reproductive function in InhBP/p120-deficient mice.

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6.

Sun Y et. al. (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

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