Methods and compositions for DMXL-associated mental retardation
AssigneeEmory University
InventorsMadhuri Hegde, Margaret Adam
Life of this patent
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Abstract
The present invention provides a method of identifying a human subject as having an increased likelihood of having DMXL-associated mental retardation, comprising detecting, in a nucleic acid sample from the subject, a mutation in a nucleotide sequence encoding DMXL1 and/or a mutation in a nucleotide sequence encoding DMXL2. The present invention further provides a method of identifying a human subject as having an increased likelihood of having DMXL-associated mental retardation, comprising detecting, in a sample from the subject, a mutation in a DMXL1 protein and/or a mutation in a DMXL2 protein.
Claims18
A method of identifying a human subject as having an increased likelihood of having DMXL-associated mental retardation, comprising detecting, in a nucleic acid sample from the subject, a mutation in a nucleotide sequence encoding DMXL1 and/or a mutation in a nucleotide sequence encoding DMXL2.
A method of identifying a human subject as having DMXL-associated mental retardation, comprising detecting, in a nucleic acid sample from the subject, a mutation in a nucleotide sequence encoding DMXL1 and/or a mutation in a nucleotide sequence encoding DMXL2.
A method of identifying a human subject as having an increased likelihood of having DMXL-associated mental retardation, comprising detecting, in a sample from the subject, a mutation in a DMXL1 protein and/or a mutation in a DMXL2 protein.
A method of identifying a human subject as having DMXL-associated mental retardation, comprising detecting, in a sample from the subject, a mutation in a DMXL1 protein and/or a mutation in a DMXL2 protein.
A method of amplifying a segment of a nucleotide sequence encoding DMXL1, comprising:
- a) choosing a first oligonucleotide primer from a nucleic acid sequence comprising the nucleotide sequence of SEQ ID NO:1, the nucleotide sequence of SEQ ID NO:3 or the nucleotide sequence of SEQ ID NO:5;
- b) choosing a second oligonucleotide primer from a nucleic acid sequence comprising the nucleotide sequence of SEQ ID NO:1, the nucleotide sequence of SEQ ID NO:3 or the nucleotide sequence of SEQ ID NO:5 that differs in nucleotide sequence from the first oligonucleotide primer;
- c) adding said first oligonucleotide primer and said second oligonucleotide primer to a nucleic acid sample;
- and
- d) amplifying a segment of the nucleotide sequence encoding DMXL1 defined by said first oligonucleotide primer and said second oligonucleotide primer, wherein said nucleic acid sample is from a subject having a DMXL-associated mental retardation phenotype.
A method of amplifying a segment of a nucleotide sequence encoding DMXL2, comprising:
- a) choosing a first oligonucleotide primer from a nucleic acid sequence comprising the nucleotide sequence of SEQ ID NO:2, the nucleotide sequence of SEQ ID NO:4 or the nucleotide sequence of SEQ ID NO:7;
- b) choosing a second oligonucleotide primer from a nucleic acid sequence comprising the nucleotide sequence of SEQ ID NO:1, the nucleotide sequence of SEQ ID NO:3 or the nucleotide sequence of SEQ ID NO:5 that differs in nucleotide sequence from the first oligonucleotide primer;
- c) adding said first oligonucleotide primer and said second oligonucleotide primer to a nucleic acid sample;
- and
- d) amplifying a segment of the nucleotide sequence encoding DMXL2 defined by said first oligonucleotide primer and said second oligonucleotide primer, wherein said nucleic acid sample is from a subject having a DMXL-associated mental retardation phenotype.
Dependencies are inferred from the claim text.