title: Rapid method for growth hormone receptor exon 3 delete (GHRd3) SNP genotyping from archival human placental samples.
abstract: Analysis of archival samples from cohorts of pregnant women may be key to discovering prognosticators of stillbirth and pregnancy/perinatal complications. Growth hormone (GH) and its receptor (GHR) are pivotal in feto-placental development and pregnancy maintenance. We report a rapid, optimized method for genotyping the GHR full-length versus exon 3-deleted isoform (GHRd3). TaqMan single nucleotide polymorphism (SNP) genotyping proved superior to standard multiplex polymerase chain reaction (PCR) in allele detection and GHR genotyping from archived samples, including those with poor genomic deoxyribonucleic acid quality/quantity such as formalin fixed, paraffin embedded, blood, and serum. Furthermore, this assay is suitable for high through put 96 or 384-well plate quantitative PCR machines with automated genotype calling software. The TaqMan genotyping assay can increase the data obtained from precious archival human samples.
authors.affiliation: Experimental Fetal Medicine Group, UQ Centre for Clinical Research, The University of Queensland, Herston, QLD, 4029, Australia, r.pelekanos@uq.edu.au.
authors.forename: Rebecca A
authors.initials: RA
authors.lastname: Pelekanos
authors.forename: Varda S
authors.initials: VS
authors.lastname: Sardesai
authors.forename: Marloes
authors.initials: M
authors.lastname: Dekker Nitert
authors.forename: Leonie K
authors.initials: LK
authors.lastname: Callaway
authors.forename: Nicholas M
authors.initials: NM
authors.lastname: Fisk
authors.forename: Penny L
authors.initials: PL
authors.lastname: Jeffery
mesh_terms: D000328:Adult; D001315:Australia / Q000453:epidemiology; D002352:Carrier Proteins / Q000235:genetics*; D002478:Cells, Cultured; D015331:Cohort Studies; D005091:Exons; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D010920:Placenta / Q000737:chemistry*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D016707:Tissue Fixation
chemical_list: D002352:Carrier Proteins; C051815:somatotropin-binding protein