ArticleJournal of assisted reproduction and genetics1998
Allele dropout in polar bodies and blastomeres.
Article in Journal of assisted reproduction and genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 145 citations in OpenAlex.
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- Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes.Orphanet journal of rare diseases · 2025Article
- Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in NewbornsJournal of clinical research in pediatric endocrinology · 2025Review
- Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease.BMC genomics · 2024Article
- Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission.Frontiers in genetics · 2024Article
- A decade of molecular preimplantation genetic diagnosis of 350 blastomeres for beta-thalassemia combined with HLA typing, aneuploidy screening and sex selection in Iran.BMC pregnancy and childbirth · 2022Article
- Successful implantation and live birth of a healthy boy after triple biopsy and double vitrification of oocyte-embryo-blastocyst.SpringerPlus · 2015Article
- Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential.Journal of clinical medicine · 2014Review
- Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis.Journal of assisted reproduction and genetics · 2012Article
- Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.Molecular biology international · 2012Article
- Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis.Journal of assisted reproduction and genetics · 2011Article
- Whole genome amplification in preimplantation genetic diagnosis.Journal of Zhejiang University. Science. B · 2011Review
- The single cell as a tool for genetic testing: credibility, precision, implication.Journal of assisted reproduction and genetics · 2010Article
- Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.Journal of assisted reproduction and genetics · 2009Article
- Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.The Journal of molecular diagnostics : JMD · 2009Article
- Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping.EJIFCC · 2007Article
- Preimplantation genetic diagnosis: present and future.Journal of assisted reproduction and genetics · 2007Review
- Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis.Journal of assisted reproduction and genetics · 2003Article
- Molecular diagnostics in preimplantation genetic diagnosis.The Journal of molecular diagnostics : JMD · 2002Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeBecause allele dropout (ADO) is frequently observed in single-cell polymerase chain reaction analysis, it is important to develop a method for efficient detection of ADO, in order to avoid possible misdiagnosis in preimplantation diagnosis.
methodsWe introduced a simultaneous amplification of mutant genes and linked polymorphic markers, such as a 4-bp repeat (GATT) at the 3' end of intron 6 in the cystic fibrosis (CF) gene and a short tandem repeat at the 5' end of the beta-globin gene. Three types of single heterozygous cells were studied for the amplification of both alleles, including 150 blastomeres, 1615 fibroblasts, and 170 first polar bodies, obtained from patients at risk for having children with cystic fibrosis (delta F-508 mutation) or sickle cell disease.
resultsADO rates of as high as 33.3% for delta F-508 mutation and 22.8% for beta-globin gene were observed in single blastomeres, compared to 7.1 and 7.7% in single fibroblasts and 5.9 and 9.6% in first polar bodies, respectively. The application of simultaneous amplification of the above linked polymorphic markers allowed detection of more than half of the cases of ADO in blastomeres (19.4% for cystic fibrosis and 12.3% for beta-globin gene) and almost all ADOs in polar bodies, particularly when the two-step sequential analysis of the first and second polar body was applied in preimplantation diagnosis of single gene disorders.
conclusionsSimultaneous amplification of linked polymorphic markers in single-cell DNA analysis of single-gene defects is an efficient method for avoiding the risk of misdiagnosis in preimplantation diagnosis.
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