Related Experiment Videos
Two highly polymorphic CA repeats in the Menkes gene (ATP7A)
C R Begy1, H A Dierick, J W Innis
1Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA.
Human Genetics
|September 1, 1995
Summary
Two new highly polymorphic CA repeats in the Menkes gene (ATP7A) offer valuable tools for prenatal diagnosis and carrier detection of Menkes disease and X-linked cutis laxa.
Area of Science:
- Genetics
- Molecular Biology
Background:
- Menkes disease and X-linked cutis laxa are genetic disorders.
- The ATP7A gene is implicated in these conditions.
Purpose of the Study:
- To identify polymorphic markers within the ATP7A gene.
- To assess the utility of these markers for genetic diagnostics.
Main Methods:
- Identification of CA repeat sequences in the ATP7A gene.
- Analysis of heterozygosity in Centre d'Etude du Polymorphisme Humaine (CEPH) families.
Main Results:
- Two highly polymorphic CA repeats were identified in the ATP7A gene.
- Observed heterozygosity rates were 0.778 and 0.60 in CEPH families.
Conclusions:
- These CA repeats are suitable for prenatal diagnosis and carrier detection in families affected by Menkes disease and X-linked cutis laxa.