Related Experiment Video
Updated: Jul 8, 2026

Visualization of Estrogen Receptors in Colons of Mice with TNBS-Induced Crohn's Disease using Immunofluorescence
Published on: March 12, 2020
Intron 1 and exon 1 alpha estrogen receptor gene polymorphisms in women with endometriosis
Hélio Sato1, Naiara C Nogueira-de-Souza, Paulo D'Amora
1Universidade Federal de São Paulo, São Paulo, Brazil. dr.heliosato@uol.com.br
Objective:
To evaluate the association of intron 1 and exon 1 polymorphisms in the estrogen receptor alpha gene (ER-alpha) with endometriosis in women.
Design:
Association study.
Setting:
Endometriosis Unit, Federal University of São Paulo.
Patient(S):
The control group consisted of volunteers older than 45 years who had no evidence of endometriosis antecedents. Two groups with the disease were evaluated: the first group had stage I or II endometriosis and the second group stage III or IV.
Intervention(S):
Polymerase chain reaction (PCR) followed by digestion with HaeIII and MspI endonucleases (RFLP) were applied to detect intron 1 and exon 1 polymorphisms, respectively, in a total of 125 controls and 105 affected women.
Main Outcome Measure(S):
Frequency and distribution of HaeIII and MspI polymorphisms in ER-alpha.
Result(S):
No significant differences in the frequency of polymorphisms either in intron 1 or exon 1 of ER-alpha were found when endometriosis patients were compared with control subjects. Furthermore, the frequency of ER-alpha polymorphisms within the two different groups of patients with disease was statistically similar. The odds ratio between presence of intron 1 single-nucleotide polymorphisms (SNP) and endometriosis was 0.904, and the odds ratio between exon 1 SNP and endometriosis was 0.976.
Conclusion(S):
The evaluated polymorphisms were not associated with endometriosis.
Related Concept Videos
Oogenesis
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Non-LTR Retrotransposons
RNA Splicing
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
