Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband.

ABSTRACT:

Background

β-thalassemia is one of the most common monogenic diseases in the world. Southeast China is a highly infected area affected by four β-thalassemia mutation types (HBB:c.-78A>G, HBB:c.52A>T, HBB:c.126_129delCTTT, and HBB:c.316-197C>T). Relative haplotype dosage (RHDO), a haplotype-based approach, has shown promise as an application for noninvasive prenatal diagnosis (NIPD); however, additional family members (such as the proband) are required for haplotype construction. The abovementioned circumstances make RHDO-based NIPD cost prohibitive; additionally, the genetic information of the proband is not always available. Thus, it is necessary to find a practical method to solve these problems.

Methods

Targeted sequencing was applied to sequence parental genomic DNA and

SUBMITTER: Li H 

PROVIDER: S-EPMC6825866 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature