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Recombination breakpoints in the
Charcot–Marie–Tooth 1A repeat sequence
in Norwegian families
Author(s) -
Aarskog N. K.,
Vedeler C. A.
Publication year - 2001
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1034/j.1600-0404.2001.104002097.x
Subject(s) - breakpoint , genetics , gene duplication , norwegian , recombination , biology , chromosome , gene , linguistics , philosophy
Objective – To investigate the recombination breakpoint in a 3.2 kb junction fragment of the 24 kb CMT1A repeat sequences (CMT1A‐REPs) on chromosome 17p11.2–12. Materials and methods – Thirty‐eight Norwegian CMT1 patients and 15 asymptomatic family members of 15 separate families including 10 normal controls were investigated using repeat (REP)‐PCR. Results – Twenty‐six (68.4%) of the CMT1 patients from 9 (60%) families were positive for the CMT1A duplication which was not found in any of the controls. In 89.9% of the REP‐PCR positive families the recombination breakpoint was mapped to a 1.7 kb “hot‐spot” region, and in 11.1% of the families to a 1.5 kb region telomeric to the 1.7 kb region. Conclusion – The frequency and regions for CMT1A‐REPs crossover events in Norwegian CMT1A cases are similar to what is found in other populations. REP‐PCR is not, however, as sensitive as other diagnostic methods to detect the CMT1A duplication.