Article
X chromosome inactivation and the diagnosis of X linked disease in females.
Journal of medical genetics - 1 Mar 1993
Brown R M, Brown G K
Abstract excerpt
In studies of female patients with suspected deficiency of the E1 alpha subunit of the pyruvate dehydrogenase complex, we have found that X inactivation ratios of 80:20 or greater occur at sufficient frequency in cultured fibroblasts to make exclusion of the diagnosis impossible in about 25% of c...
Topics
- Cells, Cultured
- Chorionic Villi Sampling
- DNA
- Densitometry
- Dosage Compensation, Genetic
- Electrophoresis, Agar Gel
- Female
- Fetal Diseases
- Fibroblasts
- Gene Expression
- Genetic Linkage
- Heterozygote
- Humans
- Methylation
- Mutation
- Polymorphism, Restriction Fragment Length
- Pregnancy
- Pyruvate Dehydrogenase (Lipoamide)