METHOD AND KIT FOR DETECTING SEVENTH CHROMOSOMAL UNIPARENTAL DISOMY

摘要

PROBLEM TO BE SOLVED: To provide a method of detecting a seventh chromosomal uniparental disomy which is useful in the diagnosis or the like of Russell-Silver syndrome and contains PEG 1 gene by carrying out PCR for simultaneously detecting the methylation and nonmethylation of a specific object sequence. ;SOLUTION: This method for detecting seventh chromosomal uniparental disomy is carried out by treating a genomic DNA in the object sequence consisting of the whole or one part of a sequence in the promoter domain of PEG 1 gene isoform expressing allele derived from father but not expressing allele derived from mother with a sulfite salt to convert nonmethylated cytosine in the object sequence into uracil and carrying out PCR using a sequence in which whole cytosine other than CG base pair cytosine in the sense chain of the object sequence is converted into uracil or thymine and a sequence in which whole cytosine in the sense chain of the object sequence is converted into uracil or thymine as a target. In the case that amplification is observed only in the former and not in the latter, it is judged to be seventh chromosomal uniparental disomy derived from mother and in the case that amplification is observed in both of them, it is judged to be normal.;COPYRIGHT: (C)2001,JPO