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Role of progesterone receptor polymorphisms in the recurrent spontaneous abortions: Indian case.

Aruna M, Nagaraja T, Andal S, Tarakeswari S, Sirisha PV, Reddy AG, Thangaraj K, Singh L, Reddy BM - PLoS ONE (2010)

Bottom Line: 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.We did not find any new mutations, not observed earlier, in our population.The results suggest that the PR gene mutations may not play any exclusive role in the manifestation of RSA, and instead, given significantly higher frequency of the *2 allele among the normal women, we surmise if it does not really confer a protective role among the Indian populations, albeit further studies are required in the heterogeneous populations of this region before making any conclusive statement.

View Article: PubMed Central - PubMed

Affiliation: Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical Institute, 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/significance: The results suggest that the PR gene mutations may not play any exclusive role in the manifestation of RSA, and instead, given significantly higher frequency of the *2 allele among the normal women, we surmise if it does not really confer a protective role among the Indian populations, albeit further studies are required in the heterogeneous populations of this region before making any conclusive statement.

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Related in: MedlinePlus

Gel picture showing bands for homozygotes (T1) allele, heterozygotes (T1/T2), and homozygote (T2) allele run on 2% agarose.Lane 3, 4, 5, and 6 are heterozygotes, and lane 13 is homozygous for the T2 allele and the remaining are homozygous for the T1 allele.
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pone-0008712-g005: Gel picture showing bands for homozygotes (T1) allele, heterozygotes (T1/T2), and homozygote (T2) allele run on 2% agarose.Lane 3, 4, 5, and 6 are heterozygotes, and lane 13 is homozygous for the T2 allele and the remaining are homozygous for the T1 allele.

Mentions: DNA was isolated from the above samples following Sambrook et al., [35] protocol. PCR amplification of all the 8 exons of PR gene was carried out as per Schweikert et al. [11] and the PROGINS Alu insertion analysis was carried as per Gomes et al., [36]. Reactions were carried out in an ABI Gene Amp PCR system 9700. Cycle Sequencing of PCR products of the 8 exons was carried out with either the forward or the reverse primers using the Big-Dye Terminator ready reaction kit (Perkin Elmer) depending on the position of the mutation and analyzed on an ABI 3730 automated DNA Analyzer (Applied Biosystems) (Figure 4). The PROGINS amplification products were loaded in a 2% agarose gel, stained with ethidium bromide (1µg/ml), and electrophoresis was carried out at 100 volts for 30 minutes, in 0.5× TAE buffer (Figure 5).


Role of progesterone receptor polymorphisms in the recurrent spontaneous abortions: Indian case.

Aruna M, Nagaraja T, Andal S, Tarakeswari S, Sirisha PV, Reddy AG, Thangaraj K, Singh L, Reddy BM - PLoS ONE (2010)

Gel picture showing bands for homozygotes (T1) allele, heterozygotes (T1/T2), and homozygote (T2) allele run on 2% agarose.Lane 3, 4, 5, and 6 are heterozygotes, and lane 13 is homozygous for the T2 allele and the remaining are homozygous for the T1 allele.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2806831&req=5

pone-0008712-g005: Gel picture showing bands for homozygotes (T1) allele, heterozygotes (T1/T2), and homozygote (T2) allele run on 2% agarose.Lane 3, 4, 5, and 6 are heterozygotes, and lane 13 is homozygous for the T2 allele and the remaining are homozygous for the T1 allele.
Mentions: DNA was isolated from the above samples following Sambrook et al., [35] protocol. PCR amplification of all the 8 exons of PR gene was carried out as per Schweikert et al. [11] and the PROGINS Alu insertion analysis was carried as per Gomes et al., [36]. Reactions were carried out in an ABI Gene Amp PCR system 9700. Cycle Sequencing of PCR products of the 8 exons was carried out with either the forward or the reverse primers using the Big-Dye Terminator ready reaction kit (Perkin Elmer) depending on the position of the mutation and analyzed on an ABI 3730 automated DNA Analyzer (Applied Biosystems) (Figure 4). The PROGINS amplification products were loaded in a 2% agarose gel, stained with ethidium bromide (1µg/ml), and electrophoresis was carried out at 100 volts for 30 minutes, in 0.5× TAE buffer (Figure 5).

Bottom Line: 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.We did not find any new mutations, not observed earlier, in our population.The results suggest that the PR gene mutations may not play any exclusive role in the manifestation of RSA, and instead, given significantly higher frequency of the *2 allele among the normal women, we surmise if it does not really confer a protective role among the Indian populations, albeit further studies are required in the heterogeneous populations of this region before making any conclusive statement.

View Article: PubMed Central - PubMed

Affiliation: Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical Institute, 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/significance: The results suggest that the PR gene mutations may not play any exclusive role in the manifestation of RSA, and instead, given significantly higher frequency of the *2 allele among the normal women, we surmise if it does not really confer a protective role among the Indian populations, albeit further studies are required in the heterogeneous populations of this region before making any conclusive statement.

Show MeSH
Related in: MedlinePlus