Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Calpain-10

Das CAPN10-Gen kodiert eine calcium-abhängige Cystein-Protease. Mutationen sind mit nicht-insulinabhängigem Diabetes mellitus 1 assoziiert (NIDDM1).

Diagnostik:

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

Krankheiten:

Nichtinsulinabhängiger Diabetes mellitus 1
CAPN10

Referenzen:

1.

Hanis CL et. al. (1996) A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

[^]
2.

Altshuler D et. al. (2000) Guilt by association.

[^]
3.

Weiss KM et. al. (2000) How many diseases does it take to map a gene with SNPs?

[^]
4.

Horikawa Y et. al. (2000) Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.

[^]
5.

Evans JC et. al. (2001) Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.

[^]
6.

None (2001) Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: examples from studies of the calpain-10 gene.

[^]
7.

Tsai HJ et. al. (2001) Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of association.

[^]
8.

Elbein SC et. al. (2002) Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians.

[^]
9.

Fullerton SM et. al. (2002) Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.

[^]
10.

Ehrmann DA et. al. (2002) Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome.

[^]
11.

Hoffstedt J et. al. (2002) Calpain-10 gene polymorphism is associated with reduced beta(3)-adrenoceptor function in human fat cells.

[^]
12.

Gonzalez A et. al. (2002) Comment: CAPN10 alleles are associated with polycystic ovary syndrome.

[^]
13.

Horikawa Y et. al. (2003) Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese.

[^]
14.

Weedon MN et. al. (2003) Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.

[^]
15.

Gonzalez A et. al. (2003) Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients.

[^]
16.

Song Y et. al. (2004) Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies.

[^]
17.

Carlsson E et. al. (2004) Variation in the calpain-10 gene is associated with elevated triglyceride levels and reduced adipose tissue messenger ribonucleic acid expression in obese Swedish subjects.

[^]
18.

Kang ES et. al. (2006) A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes.

[^]

 

 
Ihre Nachricht: