MICROARRAY AND KIT FOR DIAGNOSING DIGEORGE SYNDROME

摘要

A microarray and kit for diagnosis of Digeorge syndrome are provided to detect chromosome disorder, especially deletion of a portion of chromosome 22 resulting in Digeorge syndrome in the total of human genomic DNA rapidly and accurately. The microarray for diagnosis of Digeorge syndrome comprises at least one probe selected from (a) at least one genomic DNA fragment selected from BAC(bacterial artificial chromosome) DNA Nos. 1-231, (b) a 20-100 bp oligonucleotide continuously positioned in the genomic DNA fragment, (c) a 100bp-10kbp cDNA(complementary DNA) derived from the genomic DNA fragment, and (d) a complementary gene of the genomic DNA fragment, oligonucleotide and cDNA, wherein the probe is produced by inserting the genomic DNA fragment into BAC vector, and is immobilized to the microarray at a concentration of 2-100 pg per spot; the nucleotide sequence of the probe has a single locus in the chromosome; the probe has up to 85% of the content ratio of repeated sequence in the nucleotide sequence; and at least two kinds of probes are immobilized per one spot. The kit for diagnosis of Digeorge syndrome comprises the microarray and a marker material-detecting tool, and determines chromosome disorder of a testing sample by reacting the total genomic DNA of testing sample labeled with a first probe detectable marker material with the standard DNA labeled with a second probe detectable marker material, and measuring each hybridization ratio of the testing sample DNA and standard DNA, wherein the testing sample is body fluid selected from saliva, blood, urine, semen and amniotic fluid, tissue or cell; and the first and second marker materials are each a radioactive isotope, a fluorescent material, a chemiluminescent or an enzyme.