Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

BBS6-Gen

Das MKKS-Gen ist für das autosomal rezessive Bardet-Biedl-Syndroms 6 verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 10
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Bardet-Biedl-Syndrom 6
MKKS

Referenzen:

1.

Stone DL et al. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

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2.

Slavotinek AM et. al. (2000) Mutations in MKKS cause Bardet-Biedl syndrome.

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3.

Katsanis N et. al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

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4.

Beales PL et. al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

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5.

Katsanis N et. al. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

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6.

Slavotinek AM et al. (2002) Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.

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7.

Badano JL et al. (2003) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

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8.

Karmous-Benailly H et. al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

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