Appeal No. 95-3606
Application 07/827,691
1.193, filed June 23, 1995, in his Second Supplemental
Examiner’s Answer, mailed August 23, 1995. Claims 41 and 42
thereof are representative of the subject matter claimed and
reproduced hereafter.
41. A method for ascertaining whether an individual
is a carrier for, or afflicted with Fragile X comprising:
a) obtaining a nucleic acid sample from said
individual selected from the group of nucleic acids
consisting of DNA and RNA; and
b) amplifying a nucleic acid in said nucleic
acid sample by performing a polymerase chain
reaction in a reaction mixture that is substantially
free of GTP
and dGTP, said polymerase chain reaction comprising:
(1) at least one primer selected from the
group consisting of oligonucleotides that are
capable of hybridizing to sequences present in
said sample within the FMR-1 fragile site, and
oligonucleotides capable of hybridizing to
sequences present in said sample that are
sufficiently near the FMR-1 GC-rich fragile site
to yield a detectable PCR product, and
(2) nucleotide analogue selected from the
group consisting of 7-deaza GTP, inosine, and
7-deaza inosine; and
c) detecting the presence and size of said
amplified nucleic acid by comparison with known
standards, and using techniques known in the art;
and
d) determining whether said individual is a
carrier for, or afflicted with Fragile X.
42. A kit for determining whether an individual
carries a mutation for Fragile X, comprising:
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