DNA METHOD FOR PREDICTION OF FETAL GENETIC VARIATIONS BY DNA SEQUENCING OF PREGNANT MOTHER AND PROBAND

摘要

The present invention comprises the steps of: (1) analyzing the DNA sequence of the DNA region having a single gene in the DNA present in the blood cells (proband) having a single gene genetic variation; (2) analyzing the sequence of the DNA region having the single gene mutation in DNA present in the plasma of the carrier mother having the gene causing the single gene mutation; (3) identifying heterozygous SNPs at sites having a single gene genetic variation by comparing DNA sequences of progenitors and mothers obtained in step (2); (4) constructing a haplotype from the heterologous mononucleotide variant identified in step (3); (5) calculating, from the maternal DNA sequence obtained in step (2), the frequency of the single phase including the genetic variation of the single gene in the single phase constructed in step (4); And (6) predicting that the fetus to which the carrier mother is pregnant has a single gene genetic mutation when the frequency of the single-phase including the single gene genetic variation is greater than 0.5, the single gene genetic variation of the fetus. As the method of the present invention, the method of the present invention can predict the single gene genetic variation of the fetus in a non-invasive manner before the birth of the fetus (from 6 weeks after pregnancy) through DNA sequencing of the progenitor and carrier mother. As such, it can be applied to prenatal diagnosis of the fetus by replacing the non-invasive method including conventional chorionic villus sampling or amniotic fluid.