| Autor: |
Haan, Eric A., Mulley, John C., Gedeon, Agi K., Sutherland, Grant R., Sheffield, Leslie J. |
| Zdroj: |
Medical Journal of Australia; September 1988, Vol. 149 Issue: 6 p326-329, 4p |
| Abstrakt: |
A family in which the gene for myotonic dystrophy is segregating was tested with a DNA probe to the apolipoprotein‐C2 (APOC2)gene. The APOC2gene is linked closely to the myotonic dystrophy (DM)gene and can be used as a marker to follow the transmission of the DMgene within families. Results from DNA‐marker studies were combined with information from clinical, ophthalmological and electromyographic examinations, with age‐dependent penetrance and a recombinant frequency of 4% between the genes for myotonic dystrophy and apolipoprotein C2 being taken into account. The chance that an individual had inherited the gene for myotonic dystrophy was determined by means of the computer program, LINKAGE. This analysis altered dramatically the assessed risk that certain individuals in the family were carrying the DMgene. For four individuals in the family, the previous risks of 50% for each member were reduced to 0.9%, 0.9% and 0.2%, respectively, in three cases and increased to 91% in the fourth case. The importance of a complete clinical evaluation of potential gene carriers who donate blood for a DNA‐linkage study is stressed. |
| Databáze: |
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