Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases.

ABSTRACT:

Purpose

The preimplantation genetic testing for monogenic defects (PGT-M) is a beneficial strategy for the patients suffering from a Mendelian disease, which could protect their offspring from inheriting the disease. The purpose of this study is to report the effectiveness of PGT-M based on karyomapping for three cases of dynamic mutation diseases with trinucleotide repeat expansion.

Methods

PGT-M was carried out on three couples, whose family members were diagnosed with Huntington's disease or spinocerebellar ataxias 2 or 12. The whole genome amplification was obtained using the multiple displacement amplification (MDA) method. Then, karyomapping was performed to detect the allele that is carrying the trinucleotide repeat expansion using single nucleotide polymorphism (SNP)

SUBMITTER: Shi D 

PROVIDER: S-EPMC7125288 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature