METHOD AND SYSTEM FOR IDENTIFYING FETAL ALPHA THALASSEMIA GENE HAPLOTYPE

摘要

Disclosed is a method for identifying a fetal alpha thalassemia gene haplotype, which method comprises the following steps: constructing a three-generation sequencing library based on blood samples, wherein the blood samples are blood samples taken from the father and mother of a fetus; subjecting the three-generation sequencing library to third generation sequencing to obtain three-generation sequencing results; identifying father and mother alpha thalassemia gene haplotypes according to the three-generation sequencing results; constructing a two-generation sequencing library based on test samples, wherein the test samples are blood samples taken from the peripheral blood in a pregnant woman; subjecting the two-generation sequencing library to second generation sequencing to obtain two-generation sequencing results; and identifying the fetal alpha thalassemia gene haplotype according to the two-generation sequencing results and the father and mother alpha thalassemia gene haplotypes.