To provide a diagnostic agent for human 22q11.2 deletion syndrome and a method for diagnosis.
The method is carried out by isolating a chromosomal DNA containing a human DGCR8 gene or the human DGCR8 cDNA and carrying out Southern hybridization or a quantitative PCR (polymerase chain reaction) of the chromosomal DNA extracted from the object of testing. An antibody specifically recognizing a DGCR8 protein may be prepared and Western blotting of the protein extracted from the object of testing may be carried out. In the case of a patient suffering from the human 22q11.2 deletion syndrome, a signal of an intensity which is one-half of that obtained in a normal human is obtained (in the case of heterozygous) or a signal is not obtained at all (in the case of homozygous).
MINOSHIMA NOBUO
Noritaka Harashima
Kurokawa Megumi
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