role of progesterone receptor polymorphisms in the recurrent spontaneous abortions indian case孕激素受体多态性在印度例复发性自然流产.pdfVIP

Role of Progesterone Receptor Polymorphisms in the Recurrent Spontaneous Abortions: Indian Case 1 1 2 3 1 Meka Aruna , Theeya Nagaraja , Sadaranga Andal , Surapaneni Tarakeswari , Pisapati V. S. Sirisha , 4 4 4 1 Alla G. Reddy , Kumarasamy Thangaraj , Lalji Singh , B. Mohan Reddy * 1 Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical Institute, Hyderabad, India, 2 Lakshmi Fertility Clinic and Research Centre, Pogathota, Nellore, Andhra Pradesh, India, 3 Fernandez Hospital, Hyderabad, India, 4 Centre for Cellular and Molecular Biology, Hyderabad, India Abstract Background: We attempt to ascertain if the 3 linked single nucleotide polymorphisms (SNPs) of the Progesterone Receptor (PR) gene (exon 1: G 1031 C; S344T, exon 4: G 1978 T; L660V and exon 5: C 2310 T; H770H) and the PROGINS insertion in the intron G, between exons 7 and 8, are associated with Recurrent Spontaneous Abortion (RSA) in the Indian population. Methodology/Principal Findings: A total of 143 women with RSA and 150 controls were sequenced for all the 8 exons looking for the above 3 linked SNPs of the PR gene earlier implicated in the RSA, as well as for any new SNPs that may be possibly found in the Indian population. PROGINS insertion was screened by electrophoresis. We did not find any new mutations, not observed earlier, in our population. Further, we did not find significant role of the *2 allele (representing the mutant allele at the three SNP loci) or the T2 allele (PROGINS insertion) in the manifestation of RSA. We also did not find an LD pattern between each of the 3 SNPs and the PROGINS insertion. Conclusions/Signi