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.
- MeSH
- antithrombin III genetika MeSH
- Charcotova-Marieova-Toothova nemoc diagnóza genetika MeSH
- dominantní geny MeSH
- genetická vazba * MeSH
- isoamylasa genetika MeSH
- krevní skupiny - systém Duffy genetika MeSH
- lidé MeSH
- lidské chromozomy, pár 1 * MeSH
- rodokmen MeSH
- spinální svalová atrofie genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- Názvy látek
- antithrombin III MeSH
- isoamylasa MeSH
- krevní skupiny - systém Duffy MeSH
- MeSH
- chromatografie iontoměničová * MeSH
- glykosidhydrolasy krev MeSH
- isoamylasa krev MeSH
- katalýza MeSH
- klinické enzymatické testy metody MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- srovnávací studie MeSH
- Názvy látek
- glykosidhydrolasy MeSH
- isoamylasa MeSH
