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The clinical application of NGS-based SNP haplotyping for PGD of Hb H disease.
- Source :
-
Systems Biology in Reproductive Medicine . Jun2017, Vol. 63 Issue 3, p212-217. 6p. - Publication Year :
- 2017
-
Abstract
- This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of -α3.7/αα and –SEA/αα for PGD of Hb H disease. One out of the ten blastocysts (B11) was successfully diagnosed as genotype -α3.7/αα by Gap-PCR, whereas the others revealed allele dropout (ADO) (B1, B2, B4, B5, B7, B8, B12, and B15) or amplification failure (B10). However, NGS-based SNP haplotyping successfully diagnosed the -α3.7/αα and –SEA/αα genotypes from the MDA products of the biopsied TE cells. The haplotyping result showed that B4, B7, B8, B10, B11, B12, and B15 were carriers of the -α3.7deletion (-α3.7/αα), whereas B1, B2, and B5 were carriers of the –SEAdeletion (–SEA/αα). A blastocyst (B11) was transferred into the uterus in a subsequent frozen embryo transfer (FET) cycle after PGD. A healthy infant with a -α3.7/αα genotype weighing 2,800 g was born by cesarean section at the 38thweek of gestation. This result indicates that NGS-based SNP haplotyping is a valid screening tool for the PGD of Hb H disease. [ABSTRACT FROM PUBLISHER]
Details
- Language :
- English
- ISSN :
- 19396368
- Volume :
- 63
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Systems Biology in Reproductive Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 122570869
- Full Text :
- https://doi.org/10.1080/19396368.2017.1296501