Results on single cell PCR for Huntington's gene and WAVE? product analysis for preimplantation genetic diagnosis

2001 ◽  
Vol 183 ◽  
pp. S1-S4 ◽  
Author(s):  
K DRURY
Keyword(s):  
Single Cell ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Product Analysis ◽  
Single Cell Pcr

Reliability of the single cell PCR for the successful preimplantation genetic diagnosis of single gene disorders

2003 ◽  
Vol 80 ◽  
pp. 200
Author(s):  
Hye Won Choi ◽  
Hyoung-Song Lee ◽  
Chun Kyu Lim ◽  
Dong Mi Min ◽  
Inn Soo Kang ◽  
...  
Keyword(s):  
Single Cell ◽  
Preimplantation Genetic Diagnosis ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Single Cell Pcr ◽  
Single Gene Disorders

Experience with Single Cell PCR in Preimplantation Genetic Diagnosis: How to Avoid Pitfalls

2001 ◽  
pp. 8-15
Author(s):  
S. Rechitsky ◽  
O. Verlinsky ◽  
C. Strom ◽  
V. Ivakhnenko ◽  
J. Nefedova ◽  
...  
Keyword(s):  
Single Cell ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Single Cell Pcr

Towards single cell ad hoc protocols: First report of a healthy birth after preimplantation genetic diagnosis for methylmalonic acidemia

2015 ◽  
Vol 2 (2) ◽  
pp. 40-45
Author(s):  
Rosa Bautista-Llácer ◽  
Merche Pardo-Belenguer ◽  
Elena García-Mengual ◽  
Cristina Sánchez-Matamoros ◽  
Empar Raga ◽  
...  
Keyword(s):  
Single Cell ◽  
Preimplantation Genetic Diagnosis ◽  
Ad Hoc ◽  
Genetic Diagnosis ◽  
Methylmalonic Acidemia ◽  
First Report

Preimplantation Genetic Diagnosis for β-Thalassemia Using Single-cell DNA Analysis for Codons 17 and 26 of β-globin Gene

2009 ◽  
Vol 40 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Noor Wahidah Mohd Nasri ◽  
A. Rahman A. Jamal ◽  
Nurshaireen Chue Abdullah ◽  
Zainul Rashid Mohd Razi ◽  
Norfilza Mohd Mokhtar
Keyword(s):  
Single Cell ◽  
Preimplantation Genetic Diagnosis ◽  
Dna Analysis ◽  
Globin Gene ◽  
Genetic Diagnosis

Embryo Genome Profiling by Single-Cell Sequencing for Preimplantation Genetic Diagnosis in a β-Thalassemia Family

2015 ◽  
Vol 61 (4) ◽  
pp. 617-626 ◽  
Author(s):  
Yanwen Xu ◽  
Shengpei Chen ◽  
Xuyang Yin ◽  
Xiaoting Shen ◽  
Xiaoyu Pan ◽  
...  
Keyword(s):  
Single Cell ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Human Leukocyte ◽  
Nucleotide Polymorphisms ◽  
Clinical Practices ◽  
Mendelian Disorder ◽  
Leukocyte Antigen ◽  
Single Cell Sequencing ◽  
Embryonic Genome

Abstract BACKGROUND The embryonic genome, including genotypes and haplotypes, contains all the information for preimplantation genetic diagnosis, representing great potential for mendelian disorder carriers to conceive healthy babies. METHODS We developed a strategy to obtain the full embryonic genome for a β-thalassemia–carrier couple to have a healthy second baby. We carried out sequencing for single blastomere cells and the family trio and further developed the analysis pipeline, including recovery of the missing alleles, removal of the majority of errors, and phasing of the embryonic genome. RESULTS The final accuracy for homozygous and heterozygous single-nucleotide polymorphisms reached 99.62% and 98.39%, respectively. The aneuploidies of embryos were detected as well. Based on the comprehensive embryonic genome, we effectively performed whole-genome mendelian disorder diagnosis and human leukocyte antigen matching tests. CONCLUSIONS This retrospective study in a β-thalassemia family demonstrates a method for embryo genome recovery through single-cell sequencing, which permits detection of genetic variations in preimplantation genetic diagnosis. It shows the potential of single-cell sequencing technology in preimplantation genetic diagnosis clinical practices.

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