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[Genetic linkage of the autosomal dominant form of Charcot-Marie-Tooth amyotrophy and 3 genetic markers on chromosome 1].
Cesk Neurol Neurochir. 1989 May; 52(3):200-7.CN

Abstract

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.

Authors

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Pub Type(s)

English Abstract
Journal Article

Language

slo

PubMed ID

2582521

Citation

Ferák, V, et al. "[Genetic Linkage of the Autosomal Dominant Form of Charcot-Marie-Tooth Amyotrophy and 3 Genetic Markers On Chromosome 1]." Ceskoslovenska Neurologie a Neurochirurgie, vol. 52, no. 3, 1989, pp. 200-7.
Ferák V, Kádasi L, Hrubisko M, et al. [Genetic linkage of the autosomal dominant form of Charcot-Marie-Tooth amyotrophy and 3 genetic markers on chromosome 1]. Cesk Neurol Neurochir. 1989;52(3):200-7.
Ferák, V., Kádasi, L., Hrubisko, M., Siváková, D., & Véghová, E. (1989). [Genetic linkage of the autosomal dominant form of Charcot-Marie-Tooth amyotrophy and 3 genetic markers on chromosome 1]. Ceskoslovenska Neurologie a Neurochirurgie, 52(3), 200-7.
Ferák V, et al. [Genetic Linkage of the Autosomal Dominant Form of Charcot-Marie-Tooth Amyotrophy and 3 Genetic Markers On Chromosome 1]. Cesk Neurol Neurochir. 1989;52(3):200-7. PubMed PMID: 2582521.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Genetic linkage of the autosomal dominant form of Charcot-Marie-Tooth amyotrophy and 3 genetic markers on chromosome 1]. AU - Ferák,V, AU - Kádasi,L, AU - Hrubisko,M, AU - Siváková,D, AU - Véghová,E, PY - 1989/5/1/pubmed PY - 1989/5/1/medline PY - 1989/5/1/entrez SP - 200 EP - 7 JF - Ceskoslovenska neurologie a neurochirurgie JO - Cesk Neurol Neurochir VL - 52 IS - 3 N2 - 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. SN - 0301-0597 UR - https://www.unboundmedicine.com/medline/citation/2582521/[Genetic_linkage_of_the_autosomal_dominant_form_of_Charcot_Marie_Tooth_amyotrophy_and_3_genetic_markers_on_chromosome_1]_ L2 - https://medlineplus.gov/spinalmuscularatrophy.html DB - PRIME DP - Unbound Medicine ER -