Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kollagen Typ IV, alpha 6

Das COL4A6-Gen kodiert eine Kollagen-Komponente der Balsamembranen, das Vorkommen ist auf das Glomerulum und die Haut sowie Schleimhaut beschränkt. Deshalb umfasst die Klinik sowohl ein Alport-Syndrom wie auch eine Leiomyomatose(benigne Tumore der glatten Muskulatur).

Diagnostik:

Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Alport-Syndrom mit Leiomyomatose
COL4A5
COL4A6
Hereditäre Leiomyomatose mit Nierenzellkarzinom
COL4A6
FH

Referenzen:

1.

Oohashi T et al. (1995) Isolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genes.

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2.

Heidet L et al. (1995) Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.

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3.

Sugimoto M et al. (1994) The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters.

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4.

Oohashi T et al. (1994) Identification of a new collagen IV chain, alpha 6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5.

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5.

Zhou J et al. (1994) Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains.

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6.

Zhou J et al. (1993) Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.

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7.

Zhang X et al. (1996) Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis.

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8.

Ueki Y et al. (1998) Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.

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