title: Is MUC1 polymorphism associated with female infertility?
abstract: The transmembrane mucin glycoprotein (MUC1) has an anti-adhesive role, and functions to maintain a non-receptive uterine state. A polymorphic variation of the MUC1 gene has been associated with female infertility due to suspected failure of embryo implantation, based on the significant greater size of the lower allele observed in infertile women. The aim of this study was to confirm this preliminary observation using long polymerase chain reaction (PCR), which has amplified the 60-bp polymorphic variable number of tandem repeat (VNTR) associated to the binding domain of the MUC1 glycoprotein. DNA samples were obtained from 20 women, 10 fertile and 10 infertile, and the VNTR region was amplified through a long PCR procedure. The VNTR size range from 1.6 to 2.9 kb (22-44 motifs). The average size for the lower allele was 1.69 kb for both groups, and for the upper allele was 2.35 and 2.49 kb (P > 0.05) for fertile and infertile groups respectively. The VNTR polymorphism of the MUC1 gene was not associated with female infertility, although its significance cannot be discarded. It is suggested that other regulatory molecules and signals may interact with the MUC1 gene variations, favouring endometrial receptivity and embryo attachment.
authors.affiliation: Institute of Genetics and Biochemistry, Universidade Federal de Uberlandia, Uberlandia, MG-Brazil.
authors.forename: L R
authors.initials: LR
authors.lastname: Goulart
authors.forename: G S
authors.initials: GS
authors.lastname: Vieira
authors.forename: L
authors.initials: L
authors.lastname: Martelli
authors.forename: J
authors.initials: J
authors.lastname: Inácio
authors.forename: I M B
authors.initials: IM
authors.lastname: Goulart
authors.forename: J G
authors.initials: JG
authors.lastname: Franco
mesh_terms: D000483:Alleles; D020816:Amino Acid Motifs; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D018598:Minisatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D018396:Mucin-1 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017434:Protein Structure, Tertiary
chemical_list: D018396:Mucin-1