Method for measuring chromosome, gene or specific nucleotide sequence copy numbers using SNP array

摘要

The present invention relates to a method for measuring the copy number of a chromosome, gene or specific nucleotide sequence, comprising the steps of: (a) mixing a homozygous DNA with a test sample DNA; (b) analyzing the DNA mixture by means of SNP array; and (c) determining the copy number of a chromosome, gene, or specific nucleotide sequence by measuring the difference in signal output from the homozygous DNA and the test sample DNA.

主权项

1. A method for measuring the copy number variations in a chromosome, gene or specific nucleotide sequence, comprising the steps of:
(a) mixing a homozygous DNA with a test sample DNA in a ratio of 1:1; (b) analyzing the DNA mixture to measure SNP signal by means of SNP array; and (c) determining the copy number variations in a chromosome, gene, or specific nucleotide sequence by measuring a signal ratio (SR) of SNP alleles from DNA mixture, wherein if the SNP alleles of the homozygous DNA and the test sample DNA are alter homozygous alleles, the signal ratio from such SNP alleles having no copy number variation is 1:1 and that having copy number variation is not 1:1, and wherein if the SNP allele of the test sample DNA is heterozygous allele, the signal ratio from such SNP alleles having no copy number variation is 1:3 or 3:1 and that having copy number variation is not 1:3 or 3:1.