The invention discloses a method for detecting a fetal
thalassemia pathogenic
gene, which comprises the following steps of: (1) screening SNP sites, wherein the SNP sites are used for designing a primer
pool of the
thalassemia gene in an amplification
genome and for capturing the probe of the
thalassemia gene of the
free DNA in the
plasma of a pregnant woman; (2) extracting the
free DNA in the
plasma of the pregnant woman and the
whole blood genomic DNA of the father, the mother and a born sibling and constructing a corresponding
DNA library, and carrying out template preparation and enrichment; (3) sequencing the
free DNA and the
whole blood genomic DNA library in step (2); (4) constructing the haploid
genotype of the SNP sites on the thalassemia gene, combining the sequencing informationof the free
DNA and the
whole blood genomic DNA library, analyzing the genetic condition of the parent source and the genetic condition of the parent source, so as to determine the corresponding
genotype of the SNP sites of the fetal. According to the method, target area capture and high-
throughput sequencing technology are used, so that the noninvasive antepartum detection of the thalassemia isrealized; the required sample amount is small; on the basis of detecting the
mutation of the parent source, the method can realize the detection of the
gene mutation of the maternal source of the fetal.