parking, claim language U.S. 6074821........
We claim:
1. A cDNA probe for a human methylenetetrahydrofolate reductase (MTHFR) gene, said probe
comprising a nucleotide sequence as set forth in SEQ ID NO:1 or a nucleoude sequence which encodes
an amino acid sequence as set forth in SEQ ID NO: 2.
2. A method of diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency in a patient
which comprises the steps of:
a) amplifying a DNA sample from said patient or reverse-transcribing an RNA sample from said
patient into DNA and amplifying said DNA; and
b) analyzing the amplified DNA of step a) to determine whether said sample comprises at least
one disease-causing sequence abnormality with respect to the human MTHFR nucleotide
sequence as set forth in SEQ ID NO: 1 or a sequence encoding the human MTHFR amino acid
sequence as set forth in SEQ ID NO: 2, said abnormality leading to a decrease in MTHFR activity
and being indicative of MTHFR deficiency.
3. The method of claim 2, wherein said MTHFR deficiency is associated with a disorder selected from
the group consisting of cardiovascular disorders, cancer, neurological disorders, and disorders influenced
by folic acid metabolism.
4. The method of claim 2, wherein said sequence abnormality comprises a mutation selected from the
group consisting of 167G.fwdarw.A, 482G.fwdarw.A, 559C.fwdarw.T, 677C.fwdarw.T, 692C.fwdarw.T,
764C.fwdarw.T, 792+1A.fwdarw.T, 985C.fwdarw.T, 1015C.fwdarw.T, and 1081C.fwdarw.T.
5. The diagnosis method of claim 2, wherein said MTHFR deficiency is associated with an increased
risk of occurrence of a neural tube defect in an offspring of said patient.
6. The method of claim 3, wherein said cancer is selected from the group consisting of
neuroblastomas and colorectal carcinomas.
7. The method of diagnosis of claim 4, wherein said sequence abnormality consists of the
677C.fwdarw.T sequence abnormality. |
