MICROARRAY AND KIT FOR DIAGNOSING MILLER-DIEKER SYNDROME

摘要

A microarray and kit for diagnosis of Miller-Dieker syndrome are provided to detect chromosome disorder resulting in Miller-Dieker syndrome, especially deletion of chromosome 17p13.3 in the total of human genomic DNA, rapidly and accurately by using an immobilized probe specific to Miller-Dieker syndrome. The microarray for diagnosis of Miller-Dieker syndrome comprises at least one probe selected from (a) at least one genomic DNA fragment selected from BAC(bacterial artificial chromosome) DNA Nos. 1-137, (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 or cDNA, wherein the nucleotide sequence of the probe has a single locus in the chromosome; the probe is produced by introducing the genomic DNA fragment into a vector selected from BAC, HAC(human artificial chromosome), TAC(transformation competent artificial chromosome), YAC(yeast artificial chromosome), PAC(P1-derived artificial chromosome), P1(phage) and cosmid, has up to 85% content ratio of the repeated sequence in the nucleotide sequence, and is immobilized to the microarray at a concentration of 2-100 pg per spot; and at least one or two kinds of probes are immobilized per one spot. The kit for diagnosis of Miller-Dieker 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 kit determines (i) none of chromosome disorder, (ii) increase of chromosome and (iii) deletion of chromosome when the hybridization ratio of the testing DNA is (i) identical to, (ii) higher than and (iii) lower than that of the standard DNA, respectively.