| 摘要 |
PURPOSE: Provided are a diagnosis method of congenital adrenogenital hyperplasia(CAH) by using a specific mutant sequence capable of being used for the selection of metabolism disorder in the newborn and an oligonucleotide chip used therefor. CONSTITUTION: The diagnosis method comprises the steps of: preparing an oligonucleotide, wherein mutant type CAH 21-hydroxylase gene and 7 sets of tandem cDNA of wild type gene (exon 1, intron 2, exon 4) are fixed on a base plate; performing PCR by using a part of 21-hydroxylase genome gene(exon1, intron2, exon4) as a primer; hybridizing amplified genes and 7 sets of tandem cDNA gene fragments fixed on the oligonucleotide chip; and detecting hybridization to diagnose CAH.
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