David M Ledbetter

US Patent:

6143504, Nov 7, 2000

Filed:

Oct 27, 1999

Appl. No.:

9/429499

Inventors:

Soma Das - Chicago IL
David H. Ledbetter - Chicago IL

Assignee:

Arch Development Corporation - Chicago IL

International Classification:

C07H 2104
C12Q 168
C12P 1934

US Classification:

435 6

Abstract:

The present invention relates generally to the field of diagnostics. More particularly, it concerns the use of methylation-specific PCR in order to identify those males having Fragile X syndrome. The present invention provides a method in which amplification specific for the methylated FMR1 sequence is observed in all individuals with a full mutation, while all normal and premutation individuals show only amplification specific for the unmethylated sequence, thus allowing affected and unaffected males to be distinguished. A full mutation in the presence of mosaicism also may detectable by this method. Thus, methylation-specific PCR is demonstrated as a rapid and reliable tool for the diagnosis of fragile X.