Genetic linkage relationships of Charcot-Marie-Tooth disease (HMSN-Ib) to chromosome 1 markers

Area of Science:

• Human genetics
• Molecular biology
• Neurology

Background:

• Hereditary motor and sensory neuropathy-Ib (HMSN-Ib) is an autosomal dominant disorder.
• HMSN-Ib is known to be linked to the Duffy blood group locus on chromosome 1.
• The antithrombin III (AT3) gene is also located on chromosome 1.

Purpose of the Study:

• To investigate the genetic linkage between HMSN-Ib, the Duffy blood group locus, and the AT3 gene.
• To refine the chromosomal localization of the HMSN-Ib and Duffy loci.

Main Methods:

• Utilized DNA restriction fragment length polymorphism (RFLP) analysis for the AT3 gene.
• Examined genetic linkage in two families affected with HMSN-Ib.

Main Results:

• HMSN-Ib was not found to be tightly linked to the AT3 gene.
• The Duffy blood group locus was also not tightly linked to the AT3 gene.
• Both HMSN-Ib and Duffy loci appear to be located near the centromere of chromosome 1.

Conclusions:

• The AT3 gene is not located between the HMSN-Ib and Duffy loci.
• Further studies with additional markers and families are required for precise localization and gene order determination on chromosome 1.