MICROARRAY AND KIT FOR DIAGNOSING PRADER-WILLI SYNDROME

摘要

A microarray and kit for diagnosis of Prader-Willi syndrome are provided to detect chromosome disorder caused by the loss of active genes in a specific region of chromosome 15 of the total human genomic DNA rapidly and accurately by using a probe specific to Prader-Willi syndrome. The microarray for diagnosis of Prader-Willi syndrome comprises at least one probe which is immobilized therein and selected from (a) at least one genomic DNA fragment selected from BAC(bacterial artificial chromosome) DNA Nos. 1-321 listed, (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 probe has up to 85% content ratio of the repeated sequence in the nucleotide sequence, and the nucleotide sequence of the probe has a single locus in the chromosome. The kit for diagnosis of Prader-Willi 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.