Purpose: To develop a reliable preimplantation genetic diagnosis protocol for couples who both carry a mutant PKHD1 gene wishing to conceive children unaffected with autosomal recessive polycystic kidney disease (ARPKD).
Methods: Development of a unique protocol for preimplantation genetic testing using whole genome amplification of single blastomeres by multiple displacement amplification (MDA), and haplotype analysis with novel short tandem repeat (STR) markers from the PKHD1 gene and flanking sequences, and a case report of successful utilization of the protocol followed by successful IVF resulting in the birth of an infant unaffected with ARPKD.
Results: We have developed 20 polymorphic STR markers suitable for linkage analysis of ARPKD. These linked STR markers have enabled unambiguous identification of the PKHD1 haplotypes of embryos produced by at-risk couples.
Conclusions: We have developed a reliable protocol for preimplantation genetic diagnosis of ARPKD using single-cell MDA products for PKHD1 haplotyping.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922704 | PMC |
| http://dx.doi.org/10.1007/s10815-010-9432-5 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Association between iron deficiency and fertility.
Acta Obstet Gynecol Scand
January 2025
Dextra Fertility Clinic, Helsinki, Finland.
Introduction: This retrospective, observational cohort study investigated the association between treatment of iron deficiency with conception results and pregnancy outcomes in women with infertility and iron deficiency, before and after intravenous ferric carboxymaltose infusion.
Material And Methods: Data were collected from electronic health records from the Dextra Fertility Clinic (Helsinki, Finland) between 2015 and 2020. The cohort included 292 women (<43 years) with infertility and iron deficiency (s-ferritin ≤30 μg/L), treated with a ferric carboxymaltose infusion (Ferinject®, 500 mg i.
Effect of introducing somatic mitochondria into an early embryo on zygotic gene activation†.
Biol Reprod
January 2025
Laboratory of Animal Genetics and Reproduction, Research Faculty of Agriculture, Hokkaido University, Sapporo 060-8589, Japan.
Unlike differentiated somatic cells, which possess elongated mitochondria, undifferentiated cells, such as those of preimplantation embryos, possess round, immature mitochondria. Mitochondrial morphology changes dynamically during cell differentiation in a process called mitochondrial maturation. The significance of the alignment between cell differentiation and mitochondrial maturity in preimplantation development remains unclear.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!