Method and apparatus for determining fetus target area haplotype

Abstract

The present invention provides a method and an apparatus for determining the fetus target area haplotype. The method comprises: carrying out sequence sequencing on the target area of free nucleic acids in a pregnant woman body fluid so as to obtain first sequencing data; carrying out sequence sequencing on the same target areas of fetus family members so as to obtain second sequencing data, third sequencing data and fourth sequencing data, wherein the second sequencing data is the sequencing data of the fetus mother, the third sequencing data is the sequencing data of the fetus father, and the fourth sequencing data is the sequencing data of a proband; based on the first sequencing data, the second sequencing data and the optionally selected sequencing data, determining the fetus nucleic acid content in the pregnant woman body fluid; based on the second sequencing data, the third sequencing data and the fourth sequencing data, respectively constructing the target area haplotype of the fetus mother and the target area haplotype of the fetus father; and based on the target area haplotype of the fetus mother, the target area haplotype of the fetus father, and the fetus nucleic acid content, constructing the fetus target area haplotype.

Description

technical field [0001] The invention relates to the field of biological information, in particular, to a method and a device for determining the haplotype of a fetal target region. Background technique [0002] Spinal muscular atrophy (SMA) is a group of common autosomal recessive genetic diseases, ranking second among fatal autosomal recessive genetic diseases, and the incidence rate of patients among live births is 1 / 6000~1 / 10000. Current research has shown that the etiology of SMA is mainly due to the loss of SMN gene: SMN1 is the determining gene, which expresses a complete and stable SMN functional protein, while SMN2 is the modifier gene of SMA. According to reports, 98.7% (226 / 229) of the children with SMN1 gene deletions, about 90% of SMA patients showed homozygous SMN1 exon 7 and / or 8 deletions. SMA neuromuscular disease is a serious condition, and there is currently no effective treatment in clinical practice. Prenatal diagnosis is an important means of prevent...

AI Technical Summary

Problems solved by technology

However, due to the relatively low content of fetal DNA in maternal plasma, the sensitivity of QPCR is not sufficient to detect fetal SMN1 gene mutations in a high maternal background

Images