El gen del receptor CCK-A posiblemente está asociado con las alucinaciones auditivas en la esquizofrenia

1999 ◽  
Vol 6 (7) ◽  
pp. 428-432
Author(s):  
J. Wei ◽  
G.P. Hemmings
Keyword(s):  
Exon 2 ◽  
Intron 1

ResumenEn este estudio, se identificó un locus polimórfico de Pstl con dos alelos individuales, a saber, Al y A2, dentro del límite entre el intrón 1 y el exón 2 del gen del receptor tipo A de la colecistoquini-na (CCK). El locus polimórfico de Pstl se utilizó como marcador genético para estudiar su asociación con síntomas psicóticos en la esquizofrenia. Se encontró una diferencia significativa en la frecuencia alélica entre los pacientes esquizofrénicos con y sin alucinaciones auditivas (χ2 = 6,26, gl = 1, P = 0,012), y la relación de ventaja para la asociación alélica fue 2,21 (IC de 95% = 1,18-4,15), con una fracción atribuible de 0,1. La frecuencia de los genotipos A1-A1 y A1-A2 mostró una presencia mayor significativa en los pacientes esquizofrénicos con alucinaciones auditivas en comparación con los pacientes sin estos síntomas (χ2 = 5,45, gl = 1, P = 0,02), y la relación de ventaja para la asociación genotípica fue 2,27 (IC de 95% = 1,13-4,57), con una fracción atribuible de 0,177. La prueba de riesgo relativo de haplotipo basada en el haplotipo (HHRR) reveló una diferencia significativa entre los alelos transmitidos y no transmitidos en las familias nucleares de los pacientes esquizofrénicos con alucinaciones auditivas (χ2 = 4,54, gl = 1, P = 0,033), pero no en las familias de los pacientes esquizofrénicos sin ellas. El presente estudio indica que el gen del receptor CCK-A puede estar asociado con las alucinaciones auditivas en la esquizofrenia.

Effect of 5' splice site mutations on splicing of the preceding intron

1990 ◽  
Vol 10 (12) ◽  
pp. 6299-6305
Author(s):  
M Talerico ◽  
S M Berget
Keyword(s):  
Splice Site ◽  
Exon Skipping ◽  
Splicing Factors ◽  
Exon 2 ◽  
Intron 1 ◽  
Direct Assembly ◽  
Internal Exon ◽  
Exon 1 ◽  
Lariat Rna

Three exon constructs containing identical intron and exon sequences were mutated at the 5' splice site beginning intron 2 and assayed for the effect of the mutation on splicing of the upstream intron in vitro. Alteration of two or six bases within the 5' splice site reduced removal of intron 1 at least 20-fold, as determined by quantitation of either spliced product or released lariat RNA. The prominent product was skip splicing of exon 1 to exon 3. Examination of complex formation indicated that mutation of the 5' splice site terminating exon 2 depressed the ability of precursor RNAs containing just the affected exon to direct assembly in vitro. These results suggest that mutation at the end of an internal exon inhibits the ability of the exon to be recognized by splicing factors. A comparison of the known vertebrate 5' splice site mutations in which the mutation resides at the end of an internal exon indicated that exon skipping is the preferred phenotype for this type of mutation, in agreement with the in vitro observation reported here. Inhibition of splicing by mutation at the distal and of the exon supports the suggestion that exons, rather than splice sites, are the recognition units for assembly of the spliceosome.

Wilson's disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene

Gene ◽  
2015 ◽  
Vol 569 (2) ◽  
pp. 276-279 ◽  
Author(s):  
Eva Mameli ◽  
Maria Barbara Lepori ◽  
Francesca Chiappe ◽  
Giusy Ranucci ◽  
Fabiola Di Dato ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Atp7b Gene ◽  
Exon 2 ◽  
Intron 1

CD55−CD59− Granulocytes in Patients with Aplastic Anemia Are Clonal Populations Derived from Single PIG-A Mutant Stem Cells without Any Proliferative Advantage.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 1702-1702
Author(s):  
Kanako Mochizuki ◽  
Chiharu Sugimori ◽  
Zhirong Qi ◽  
Xuzhang Lu ◽  
Shinji Nakao
Keyword(s):  
Stem Cells ◽  
Aplastic Anemia ◽  
Immunosuppressive Therapy ◽  
Small Populations ◽  
Hematopoietic Stem ◽  
Exon 2 ◽  
E Coli ◽  
Intron 1 ◽  
Primer Sets ◽  
Proliferative Advantage

Abstract Small populations of CD55−CD59− blood cells are detectable in approximately 50% of all acquired aplastic anemia (AA) patients and the presence of such PNH-type cells are also associated with a good response to immunosuppressive therapy (Sugimori C, et al. Blood 2006). In most patients showing 0.1% to 1.0% PNH-type cells at the diagnosis of AA, the PNH-type cell proportion remains unchanged over 3 years even after successfully responding to immunosuppressive therapy (Mochizuki K, et al. ASH 2006). Although these findings suggest that small populations of PNH-type cells are derived from a limited number of PIG-A mutants without any proliferative advantage, this hypothesis has not yet been verified at the molecular level. To appropriately address this issue, we studied 3 patients with AA who showed 0.14 to 1.6% PNH-type granulocytes. The CD55−CD59− granulocytes were sorted from these patients 2 different times at a minimum of 6 month intervals and then they were subjected to a PIG-A gene analysis. Five exons were amplified using 6 different primer sets and each amplified product was then subcloned into E. coli. At least 5 transformed clones for each amplified product were randomly plucked and subjected to sequencing. Single mutations were thereafter detected in all 3 patients as shown in Table 1. The same single mutations were then detected in the CD55−CD59− granulocytes from the patient obtained 6 months after the first examination. Two patients were in a state of hematologic remission at from 1 to 7 years after the first examination of their peripheral blood and the proportion of PNH-type cells remained stable during this period in all patients. Response to immunosuppressive therapy was not evaluable in one patient because he rejected ATG therapy. These findings indicate that PNH-type granulocytes from patients with AA are therefore clonal populations derived from single hematopoietic stem cells (HSCs) with a PIG-A mutation. If an AA patient has many HSCs with PIG-A mutations before the development of AA, then the immune system attack against HSCs should allow for the survival of the PIG-A mutants leading to the generation of a polyclonal PNH-type cell population. The presence of clonal PNH-type cells at the time of AA diagnosis suggests that the number of HSCs with a PIG-A mutation in healthy individuals may therefore be much lower than we expected and the paucity of PIG-A mutant HSCs may therefore account for the absence of increased number of PNH-type cells in approximately 20% of all AA patients who apparently respond to immunosuppressive therapy. Table 1 Patient Age Gender Proportion of PNH-type granulocytes PIG-A mutation Response to IST 1 64 M 0.147% 593 bp (exon 2) T insertion PR 2 82 M 1.629% 3′splice site (intron 1) G to A change PR 3 76 M 0.161% 276 bp (exon 2) G deletion not evaluable

MRD Monitoring in AML Patients with MLL-MLLT4 by Quantification of Fusion Gene Transcripts and Genomic Chromosomal Breakpoint Sequences

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4888-4888
Author(s):  
Grigory Tsaur ◽  
Anna Ivanova ◽  
Olga Plekhanova ◽  
Tatyana Riger ◽  
Yulia Yakovleva ◽  
...  
Keyword(s):  
Genomic Dna ◽  
Fusion Gene ◽  
Rt Pcr ◽  
Pcr Assay ◽  
Exon 2 ◽  
Standard Curve ◽  
Healthy Donors ◽  
Intron 1 ◽  
Exon 9 ◽  
Chromosomal Breakpoint

Abstract Statement. The MLL-MLLT4 (former MLL-AF6) fusion gene (FG) is relatively rare genetic abnormality, predominantly found in AML. It averages 3–5% among other MLL rearrangements. Here we present data of MRD monitoring in 2 patients with AML carrying an MLL-MLLT4 rearrangement by 2 approaches: using FG transcript at RNA/cDNA level in comparison with FG at genomic DNA level. Materials and methods. Patients (pts) were diagnosed according French-American-Britain (FAB) classification. Initial diagnostics included cytomorphology, immunophenotyping of blast cells, cytogenetics, FISH and reverse transcriptase PCR (RT-PCR). RT-PCR products were directly sequenced afterwards. In both cases identification of genomic chromosomal breakpoint sequences within MLL and MLLT4 genes was done by long-distance inverse PCR (LDI-PCR). MRD quantification in genomic DNA was performed using patient-specific primers and probes by real-time quantitative PCR (RQ-PCR). 500 ng of DNA was used per reaction. Standard curve was received by serial 10-fold dilutions of pts’ DNA into the DNA isolated from pooled lymphocytes of ten healthy donors. b-actin was used as DNA quality and quantity control. Detection of FG transcript kinetics during treatment was performed by RQ-PCR according to “Europe Against Cancer” recommendations for normalization by using control gene ABL (Gabert J. et al Leukemia, 2003, 17) and for using 10-fold dilutions of plasmids carrying MLL-MLLT4 fragment as source of standard curve. MRD value for cDNA targets were estimated as previously described (Beillard E. et al Leukemia, 2003, 17). Each sample was run in triplicates. According to the treatment design, time-points for MRD estimation were scheduled before each block of treatment. Totally 5 samples were evaluated in each patient (initial and 4 follow-ups). FLT3-ITD status was estimated at the time of diagnosis. Informed consent was obtained in both cases. Patients’ characteristics, treatment and clinical outcome Case # 1 Case #2 Age 58 13 Sex Male Male Initial WBC*106/ml 5.5 94.9 Immunophenotype CD34+CD117+HLA-DR+ CD11c+CD13+CD33+CD65+ CD34+CD117+CD13+ CD33+CD45+MPO+ Cytogenetics 46, XY, del(5)(q?), der(5)t(5;6;11) (q22;q15q27;q23), der(6)t(5;6) (q22;q15), del der(11) 46, XY, t(6;11)(q27;q23) FISH with LSI MLL MLL deletion MLL split RT-PCR MLL-MLLT4 positive MLL-MLLT4 positive MLL-MLLT4 FG transcript exon 9-exon 2 exon 9-exon 2 Localization of genomic chromosomal breakpoint within MLL and MLLT4 intron 9-intron 1 intron 9-intron 1 FLT3-ITD Negative Negative Induction treatment 7+3 AIE Consolidation therapy 2× HAM 2× HDAC 1× HAM 1× FLAG 1× HAE Maintenance − + Duration of therapy, months 8 7 Achievement of CR + + OS, months 8 7 EFS, months 6 5 Current status Alive in CR Alive in CR Results. Despite of achievement of CR, MLL-MLLT4 FG transcripts were detected in every sample tested after induction and consolidation chemotherapy by RQ-PCR. MRD value in case #1 in cDNA was fluctuated significantly within 2 log. Although in case #2 there was successive reduction from 260% at the beginning of treatment till 0.7% before maintenance therapy (after HAE block). Limited dilution series of a MLL-MLLT4-positive RNA into RNA of ten healthy donors showed a sensitivity limitation of 1E–05. For quantification of genomic chromosomal breakpoint sequences b-actin was amplified in each well. Deviation between Ct values of b-actin in different wells did not exceed ±2.0. In case # 1 the standard curve of the RQ-PCR assay for MLL-MLLT4 FG had slope of −3.19. Correlation coefficient was 0.987. Quantitative range of this assay was 1E–04 and sensitivity 1E–5. It was also observed a considerable variation of MRD levels in genomic DNA during treatment, like it was observed in MRD monitoring by FG transcripts. Fluctuations run up to 2.5 log. In case #2 the standard curve of the RQ-PCR assay for MLL-MLLT4 had a slope of −3.63 with correlation coefficient 0.992. Quantitative range of this assay was reached 1E–04 with sensitivity 1E–05. MRD level in this patient constantly decreased. Conclusions. The same tendency has been shown in each patient: fluctuations of MRD levels (2.5 log in case #1) and successive reduction (case #2). Results received at RNA/cDNA level and in genomic DNA cannot substitute each other, but they can be used as additives. It has been demonstrated that quantification of MLL-MLLT4 FG in genomic DNA is precise and suitable for MRD monitoring.

Translocation t(1;6)(p35.3;p25.2) Involves RCC1 and IRF4 and Is Not Restricted to Unmutated Chronic Lymphocytic Leukemia

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4584-4584
Author(s):  
Natalie Put ◽  
Els Lierman ◽  
Iwona Wlodarska ◽  
Anne Hagemeijer ◽  
Peter Vandenberghe ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Chromosomal Aberrations ◽  
Molecular Level ◽  
Fusion Transcript ◽  
Lymphocytic Leukemia ◽  
Lymphocyte Function ◽  
Close Monitoring ◽  
Exon 2 ◽  
Available N ◽  
Intron 1

Abstract Abstract 4584 Introduction The disease course of B-cel chronic lymphocytic leukemia (CLL) is highly variable and genetic aberrations help to stratify patients with different prognosis. Therefore, detailed characterization of CLL associated chromosomal aberrations is important in order to identify patient subsets who need close monitoring and early therapy. The t(1;6)(p35.3;p25.2) involving IRF4 is extremely rare in CLL and has been associated with high-risk chromosomal aberrations [i.e. del(11q) and del(17p)], unmutated IGHV status and a rather progressive clinical course. Aim Here, we report the clinical, morphological and cytogenetic features of five new patients with a t(1;6)(p35.3;p25.2) and characterize for the first time the breakpoints at the molecular level. Materials and methods Five patients with B-NHL and a t(1;6)(p36∼p33;p25∼p23) in the karyotype were included in the study. Immunophenotype and/or morphology corresponded with CLL in 4/5 cases. The fifth case presented with follicular lymphoma (FL). The t(1;6)(p35.3;p25.2) was confirmed by FISH in all cases. Results When the 5 additional cases are considered together with 8 previously reported (Michaux et al., 2005), the female/male ratio is 3/10 with a median age of 63 (range 33–81). Four of the CLL patients presented with Binet stage A, 5 with stage B and 3 with stage C. Median leukocytosis was 11.8×109/L (range 1.8–103×109/L), LDH levels were elevated in 2 and CD38 was expressed in 7/9 patients. Nine patients showed an unmutated and 2 a mutated IGHV status (not available: n=2). Eleven patients required therapy, 0.5–62 months (median 0.5 month) after diagnosis. Only one of the 5 new cases was refractory to the therapy and died due to the disease after a follow-up of 20 months. The t(1;6) was found as the sole karyotypic change in 2 cases and was associated with one abnormality in 2 other cases (i.e. a +12 and a +15). The case with FL showed a complex composite karyotype. In addition, FISH detected a cryptic del(11q) and del(17p) in one case each. The 1p breakpoint was mapped to a 500Kb region between BACs RP11–290H1 and RP11–442N24 and the 6p breakpoint into the BAC RP11–233K4. Molecular analysis of 7 t(1;6) positive patients confirmed the presence of the translocation and demonstrated a fusion between the 5' end of RCC1 (in intron 1, 2 or 3) on 1p35, and IRF4 (in intron 1) on 6p25. The resulting fusion transcript consists of RCC1 exon 1, exon 2 or exon 3, linked to exon 2 of IRF4. In one patient, a 48 basepair long insert from intron 3 was present between RCC1 exon 3 and IRF4 exon 2. The first 4 exons of RCC1 are part of the 5'- untranslated region, whereas the open reading frame of IRF4 starts at exon 2. As such, the t(1;6) likely alters the expression of IRF4. Discussion and conclusion The RCC1 protein is widely expressed and is involved in chromatin condensation. IRF4 is a transcription factor with expression restricted to the immune system. The IRF4 protein plays a critical role in B-cell differentiation and mature T- and B-lymphocyte function. The t(6;14)(p25.2;q32) which juxtaposes IRF4 to the immunoglobulin loci (IG) resulting in IRF4 overexpression, has been reported in rare multiple myeloma (MM) cases and other mature B-NHLs. The oncogenic capacity of IRF4 has been demonstrated in MM. In CLL, the role of IRF4 remains unknown. Heterogeneous IRF4 expression has been observed between patients and examined tissues, and data on prognostic significance are conflicting. Here, we report 5 additional cases with t(1;6)(p35.3;p25.2) and demonstrate that this translocation is seen in unmutated CLL, as well as in mutated CLL and other indolent lymphoproliferative disorders. This is in contrast to the previously reported exclusive association of t(1;6) with unmutated CLL. At the molecular level, the t(1;6) results in a fusion transcript between RCC1 and IRF4 by which IRF4 expression is altered. Recognition of this and other translocations is important in order to refine the prognostic stratification of patients with CLL. Disclosures: No relevant conflicts of interest to declare.

scholarly journals The E7 Oncoprotein Is Translated from Spliced E6*I Transcripts in High-Risk Human Papillomavirus Type 16- or Type 18-Positive Cervical Cancer Cell Lines via Translation Reinitiation

2006 ◽  
Vol 80 (9) ◽  
pp. 4249-4263 ◽  
Author(s):  
Shuang Tang ◽  
Mingfang Tao ◽  
J. Philip McCoy ◽  
Zhi-Ming Zheng
Keyword(s):  
Cervical Cancer ◽  
High Risk ◽  
Cell Lines ◽  
Rna Splicing ◽  
Human Papillomaviruses ◽  
Small Interfering Rnas ◽  
Coding Region ◽  
Exon 2 ◽  
E7 Oncoprotein ◽  
Intron 1

ABSTRACT High-risk human papillomaviruses (HPVs) encode two viral oncoproteins, E6 and E7, from a single bicistronic pre-mRNA containing three exons and two introns. Retention of intron 1 in the E6 coding region is essential for production of the full-length E6 oncoprotein. However, splicing of intron 1 is extremely efficient in cervical cancer cells, leading to the production of a spliced transcript, E6*I, of E6. Here, we investigated whether this splicing of intron 1 might benefit E7 production. Using RNA interference as a tool, we targeted the intron 1 region using small interfering RNAs (siRNAs) in HPV-positive cell lines. At an effective low dose, the siRNAs specifically suppressed E6 expression but not E7 expression, as demonstrated by the stabilization of p53. However, at high doses the HPV18 intron 1-specific siRNA substantially and specifically reduced the level of the 18E6*I mRNA lacking the intron region in HeLa cells, implying its nuclear silencing on the pre-mRNA before RNA splicing. Two other siRNAs targeting the exon 2 regions of HPV16 and -18, which encode the E7 oncoprotein, reduced the E6*I mRNAs to a remarkable extent and preferentially suppressed expression of E7, leading to accumulation of hypophosphorylated p105Rb and cell cycle arrest, indicating that the majority of E7 proteins are the translational products of E6*I mRNAs. This was confirmed by transient transfection in 293 cells: E7 could be translated only from the E7 open reading frame (ORF) on E6*I mRNA in a distance-dependent matter of upstream E6*I ORF by translation reinitiation. The data thus provide direct evidence that the E6*I mRNAs of high-risk HPVs are responsible for E7 production.

scholarly journals Transcriptional activity of the human tissue inhibitor of metalloproteinases 1 (TIMP-1) gene in fibroblasts involves elements in the promoter, exon 1 and intron 1

1997 ◽  
Vol 324 (2) ◽  
pp. 611-617 ◽  
Author(s):  
Ian M. CLARK ◽  
Andrew D. ROWAN ◽  
Dylan R. EDWARDS ◽  
Torben BECH-HANSEN ◽  
Derek A. MANN ◽  
...  
Keyword(s):  
Point Mutations ◽  
Tissue Inhibitors Of Metalloproteinases ◽  
Minor Role ◽  
Detailed Knowledge ◽  
Rnase Protection ◽  
Exon 2 ◽  
Promoter Fragment ◽  
Basal Expression ◽  
Intron 1 ◽  
Exon 1

The active forms of all of the matrix metalloproteinases (MMPs) are inhibited by a family of specific inhibitors, the tissue inhibitors of metalloproteinases (TIMPs). Inhibition represents a major level of control of MMP activity. A detailed knowledge of the mechanisms controlling TIMP gene expression is therefore important. We have isolated a genomic clone of the human TIMP-1 gene. A 3 kbp XbaI fragment has been sequenced; this fragment contains 1718 bp 5′ flanking sequences, exon 1, a 929 bp intron 1 and part of exon 2. Computer analysis reveals 10 consensus sequences for Sp1, six for activating protein 1 (AP-1), six for polyoma enhancer A3 (PEA3), 12 for AP-2 and five CCAAT boxes. The region hybridizing with a murine TIMP-1 promoter fragment has been subcloned and analysed further. RNase protection identifies six transcription start points, making exon 1 up to 48 bp in length. Transient transfection of promoter–chloramphenicol O-acetyltransferase reporter constructs into primary human connective tissue fibroblasts shows that a 904 bp fragment that hybridizes to a murine TIMP-1 promoter fragment contains a functional promoter. Constructs of -738/+95 to -194/+21 are inducible with serum or phorbol ester to a similar extent to the endogenous TIMP-1 gene. These results and further mapping with 5′ deletion mutants from the -738/+95 region have demonstrated that an AP-1 site at -92/-86 is essential for basal expression of the gene. Point mutations within this region have further confirmed the role of this site, along with a more minor role for a neighbouring PEA3 site, in basal expression. Deletions from the 3′ end also implicate a region across the exon 1/intron 1 boundary and especially +21 to +58 in basal expression. The +21/+58 region contains a putative binding site for the transcription factor leader-binding protein 1 (LBP-1). Gel-shift analysis shows that protein binds specifically to this region, but competition studies suggest that it is unlikely to be LBP-1.

scholarly journals Effect of 5' splice site mutations on splicing of the preceding intron.

1990 ◽  
Vol 10 (12) ◽  
pp. 6299-6305 ◽  
Author(s):  
M Talerico ◽  
S M Berget
Keyword(s):  
Splice Site ◽  
Exon Skipping ◽  
Splicing Factors ◽  
Exon 2 ◽  
Intron 1 ◽  
Direct Assembly ◽  
Internal Exon ◽  
Exon 1 ◽  
Lariat Rna

Three exon constructs containing identical intron and exon sequences were mutated at the 5' splice site beginning intron 2 and assayed for the effect of the mutation on splicing of the upstream intron in vitro. Alteration of two or six bases within the 5' splice site reduced removal of intron 1 at least 20-fold, as determined by quantitation of either spliced product or released lariat RNA. The prominent product was skip splicing of exon 1 to exon 3. Examination of complex formation indicated that mutation of the 5' splice site terminating exon 2 depressed the ability of precursor RNAs containing just the affected exon to direct assembly in vitro. These results suggest that mutation at the end of an internal exon inhibits the ability of the exon to be recognized by splicing factors. A comparison of the known vertebrate 5' splice site mutations in which the mutation resides at the end of an internal exon indicated that exon skipping is the preferred phenotype for this type of mutation, in agreement with the in vitro observation reported here. Inhibition of splicing by mutation at the distal and of the exon supports the suggestion that exons, rather than splice sites, are the recognition units for assembly of the spliceosome.

Association analyses of polymorphisms in porcine MYF5 and MYOD1 genes with carcass traits

2007 ◽  
Vol 58 (11) ◽  
pp. 1040 ◽  
Author(s):  
M. Liu ◽  
J. Peng ◽  
D. Q. Xu ◽  
R. Zheng ◽  
F. E. Li ◽  
...  
Keyword(s):  
Myogenic Differentiation ◽  
Carcass Traits ◽  
Large White ◽  
Exon 2 ◽  
Association Analyses ◽  
Intron 1 ◽  
Pcr Rflp ◽  
Exon 1 ◽  
Myogenic Factor ◽  
Fat Thickness

The objective of this study was to assess the effect of polymorphisms of myogenic factor 5 (MYF5) and myogenic differentiation 1 (MYOD1) genes on carcass traits in pigs. PCR-RFLP was used to identify three and one SNP(s) from the MYF5 and the MYOD1 gene, respectively. Association analysis performed on the four polymorphisms in a series of three Large White × Meishan F2 populations totalling near 400 pigs showed: (1) an MYF5 exon 1 Hsp92II polymorphism causing a Met→Leu substitution was significantly associated with fat meat percentage, shoulder fat thickness, thorax-waist fat thickness, average backfat thickness and carcass length to 1st rib (P < 0.05); (2) an MYF5 exon 2 MspI polymorphism and an intron 1 HaeIII polymorphism, which were completely linked, were significantly associated with thorax-waist fat thickness, 6–7th rib fat thickness and carcass length to 1st rib (P < 0.05); (3) an MYOD1 intron 1 DdeI polymorphism was significantly associated with carcass length to 1st rib.

scholarly journals Estrogen Receptor-αgene (T/C) Pvu II Polymorphism in Endometriosis and Uterine Fibroids

2009 ◽  
Vol 26 (4) ◽  
pp. 149-154 ◽  
Author(s):  
Sujatha Govindan ◽  
Noor Ahmad Shaik ◽  
Bhavani Vedicherla ◽  
Vijayalakshmi Kodati ◽  
Kaipa Prabhakar Rao ◽  
...  
Keyword(s):  
Estrogen Receptor ◽  
Asian Indian ◽  
Indian Population ◽  
Uterine Fibroids ◽  
Indian Women ◽  
Exon 2 ◽  
Population Genomic ◽  
Intron 1 ◽  
Asian Indian Women ◽  
Asian Indian Population

Endometriosis and fibroids are estrogen-dependent benign pathologies of the uterus, which account for infertility and pelvic pain along with dysmenorrhea in women. Suppression of the disease and recurrence after discontinuing hormone therapy strongly suggests that these are responsive to hormones, especially estrogen, which acts via its receptor. A T/C SNP in intron 1 and exon 2 boundary of estrogen receptor (ER)αgene recognized by PvuII enzyme has been associated with several female pathologies like breast cancer, osteoporosis, endometriosis and fibroids in various ethnic groups. The aim of the present study was to assess this ERαT/C polymorphism in endometriosis and fibroid patients from Asian Indian population. Genomic DNA was isolated from 367 women, who included 110 cases of endometriosis, 142 cases of uterine fibroids and 115 healthy age matched women volunteers. PCR was carried out to amplify ERαgene followed by restriction digestion with Pvu II. Results indicate a significant association of C allele with both endometriosis [OR = 2.6667, 95% CI = 1.4166 to 5.0199;p< 0.05] and fibroids [2.0833, 95% CI = 1.1327 to 3.8319;p< 0.05]. Further studies are needed in larger population to establish ERαC allele as a risk marker for endometriosis and fibroids in Asian Indian women. Ethnicity, race, diet etc may play a role in susceptibility to endometriosis and fibroids and further studies are warranted in this area.

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