title: Study of p53 gene mutations and placental expression in recurrent miscarriage cases.
abstract: This study aimed to investigate the role of p53 in early human development by screening patients with recurrent miscarriages (RM) for mutations in the p53 gene and by studying p53 expression in placental tissue. A total of 46 women with RM and 191 control women were included in the study. A sample was also obtained from 40 male partners of RM patients. The samples were screened for p53 sequence variations using denaturing high-performance liquid chromatography, sequencing and allele-specific polymerase chain reaction. Placental tissue was available from 19 miscarriages. p53 expression in placental tissue was studied by immunohistochemical staining. The C11992A polymorphism in p53 was found to be associated with RM in Finnish patients. The C/A or A/A genotype was detected in 32.6% of the women with RM and in 18.9% of the controls (P = 0.0414, odds ratio 2.083, confidence interval 1.018-4.259). The results suggest that women carrying the C/A or A/A genotype have a two-fold higher risk for RM than women with the C/C genotype. Further studies are, however, necessary to define whether the intronic polymorphism has functional consequences. The immunohistochemical staining of placental tissues revealed no abnormal p53 expression patterns in the samples studied.
authors.affiliation: Folkhälsan Institute of Genetics, University of Helsinki, PO Box 63, 00014 Helsinki, Finland. milja.kaare@helsinki.fi
authors.forename: Milja
authors.initials: M
authors.lastname: Kaare
authors.forename: Ralf
authors.initials: R
authors.lastname: Bützow
authors.forename: Veli-Matti
authors.initials: VM
authors.lastname: Ulander
authors.forename: Risto
authors.initials: R
authors.lastname: Kaaja
authors.forename: Kristiina
authors.initials: K
authors.lastname: Aittomäki
authors.forename: Jodie N
authors.initials: JN
authors.lastname: Painter
mesh_terms: D000026:Abortion, Habitual; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D017931:DNA Primers; D005260:Female; D016158:Genes, p53; D006801:Humans; D009154:Mutation; D010920:Placenta / Q000378:metabolism*; D011110:Polymorphism, Genetic
chemical_list: D017931:DNA Primers