Improved PCR conditions for the stretch of (CAG) sub(n) repeats causing Huntington's disease

The defect causing Huntington's disease (HD) has been identified as an expanded (CAG) sub(n) repeat, which is probably contained in the open reading frame of the Huntingtin gene (IT15). This trinucleotide stretch is varying in the range of 11 to 34 copies on normal chromosomes. On affected chro...

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Bibliographic Details
Published in:Human molecular genetics 1993-01, Vol.2 (6), p.637-638
Main Authors: Riess, O, Noerremoelle, A, Soerensen, SA, Epplen, J T
Format: Article
Language:English
Subjects:
defects
genes
Huntington's chorea
man
polymerase chain reaction
Online Access:Get full text
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Summary:The defect causing Huntington's disease (HD) has been identified as an expanded (CAG) sub(n) repeat, which is probably contained in the open reading frame of the Huntingtin gene (IT15). This trinucleotide stretch is varying in the range of 11 to 34 copies on normal chromosomes. On affected chromosomes, however, repeat units larger than 42 have been identified. To analyze repeat expansions in our populations, we investigated control individuals as well as HD patients using the published primer sequences. Unspecific amplification product was always present covering partly the expected fragments. On the basis of our PCR data, it was particularly painstaking to have to define the expanded repeat units in HD patients with certainty. To develop the PCR amplification into a reliable tool for analyzing the repeat expansion in HD we designed novel PCR primers and conditions.
ISSN:0964-6906