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MICROARRAY AND KIT FOR DIAGNOSING KLINEFELTER'S SYNDROME
MICROARRAY AND KIT FOR DIAGNOSING KLINEFELTER'S SYNDROME
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机译：诊断克氏综合征的微阵列和套件
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摘要
A microarray and kit for diagnosis of Klinefelter syndrome are provided to detect chromosome disorder, especially sex chromosome disorder containing addition of one X chromosome which results in Klinefelter syndrome in the total of human genomic DNA rapidly and accurately. The microarray for diagnosis of Klinefelter syndrome comprises at least one probe selected from (a) at least one genomic DNA fragment selected from BAC(bacterial artificial chromosome) DNA Nos. 1-10 of BAC10-I08, BAC52_L18, BAC126_D02, BAC147_N13, BAC170_J12, BAC194_K10, BAC37_G04, BAC41_I24, BAC202_C09 and BAC220_P01, (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 content ratio of repeated sequence in the nucleotide sequence of the probe is up to 85%; the nucleotide sequence of the probe has a single locus in the chromosome; the probe is produced by inserting 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, and is immobilized to the microarray at a concentration of 2-100 pg per spot; and at least two kinds of probes are immobilized per one spot. The kit for diagnosis of Klinefelter 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 first and second marker materials are each independently a radioactive isotope, a fluorescent material, a chemiluminescent or an enzyme.
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