Stúdium genetickej väzby medzi autozómovou dominantnou formou amyotrofie Charcot-Marie-Tooth a tromi genetickými markermi chromozómu c. 1
[Genetic linkage of the autosomal dominant form of Charcot-Marie-Tooth amyotrophy and 3 genetic markers on chromosome 1]
Language Slovak Country Czech Republic Media print
Document type English Abstract, Journal Article
PubMed
2582521
- MeSH
- Antithrombin III genetics MeSH
- Charcot-Marie-Tooth Disease diagnosis genetics MeSH
- Genes, Dominant MeSH
- Genetic Linkage * MeSH
- Isoamylase genetics MeSH
- Duffy Blood-Group System genetics MeSH
- Humans MeSH
- Chromosomes, Human, Pair 1 * MeSH
- Pedigree MeSH
- Muscular Atrophy, Spinal genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- English Abstract MeSH
- Journal Article MeSH
- Names of Substances
- Antithrombin III MeSH
- Isoamylase MeSH
- Duffy Blood-Group System MeSH
In a large pedigree with the autosomal dominant form of Charcot-Marie-Tooth neuropathy type I (CMT 1) segregating in four generations, genetic linkage was studied between this disease and three genetic markers from the centromere region of chromosome 1: Duffy blood group (Fy), salivary and pancreatic isoamylases (AMY 1, AMY 2), and DNA polymorphism at the antithrombin III locus, detected with the probe pAT3c. The lod-scores found do not support linkage between CMT 1 and both Fy and AT 3, since they are negative for all recombination frequencies. Very close linkage could have been excluded. For the AMY polymorphism, the pedigree was not linkage-informative. In agreement with the data from literature, these results support the notion of genetic heterogeneity of CMT 1: in the pedigree under study, the responsible locus is probably not in the centromeric region of the chromosome 1, where it was shown to map to in several other pedigrees. Thus, there seem to exist at least two loci responsible for this type of CMT disease.