To detect the high-frequency loss of heterozygosity (LOH) chromosome regions for ectopic endometrium of ovarian endometriosis (EMs) and to investigate the significance of high-frequency LOH chromosome regions in EMs, we obtained ectopic endometrium by laser capture microdissection (LCM (22 samples)), manual capture microdissection (MCM (18 samples)), and routine dissection (14 samples), respectively. After restriction and circularization-aided rolling circle amplification (RCA-RCA), LOH was detected at 12 microsatellite (MS) loci. The frequency of LOH was 59.09% (13/22) in LCM group, 61.11% (11/18) in the MCM group and 21.43% (3/14) in the routine dissection group. The latter was significantly lower when compared with the former two (p < 0.05). In the LCM group, candidate chromosome regions 17q21.31 and 9p21.3 had LOH frequencies of 23.8 and 13.6%, respectively. The highest LOH frequency was detected at the locus AAAT2 on chromosome 17q21.31 (40%). The chromosome region with the highest frequency of LOH for ectopic endometrium was 17q21.31, especially at the AAAT2 locus, which prompted that down regulation of the candidate genes nearby the locus might be one of the mechanisms of EMs pathogenesis. LCM combined with RCA-RCA is a reliable technique for analyzing endometrial LOH at multiple MS loci. MCM combined with RCA-RCA, which provided similar results, was more cost-effective.

Download full-text PDF

Source
http://dx.doi.org/10.3109/09513590.2011.650746DOI Listing

Publication Analysis

Top Keywords

chromosome regions
16
loh chromosome
12
ectopic endometrium
12
loh
9
significance high-frequency
8
high-frequency loh
8
candidate genes
8
capture microdissection
8
routine dissection
8
frequency loh
8

Similar Publications

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Ann Clin Transl Neurol

January 2025

Department of Neurology, Movement Disorders Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.

View Article and Find Full Text PDF

Viral diseases severely impact maize yields, with occurrences of maize viruses reported worldwide. Deployment of genetic resistance in a plant breeding program is a sustainable solution to minimize yield loss to viral diseases. The meta-QTL (MQTL) has demonstrated to be a promising approach to pinpoint the most robust QTL(s)/candidate gene(s) in the form of an overlapping or common genomic region identified through leveraging on different research studies that independently report genomic regions significantly associated with the target traits.

View Article and Find Full Text PDF

Structural variations (SVs) play important roles in genetic diversity, evolution, and carcinogenesis and are, as such, important for human health. However, it remains unclear how spatial proximity of double-strand breaks (DSBs) affects the formation of SVs. To investigate if spatial proximity between two DSBs affects DNA repair, we used data from 3C experiments (Hi-C, ChIA-PET, and ChIP-seq) to identify highly interacting loci on six different chromosomes.

View Article and Find Full Text PDF

Identification of QTL-by-environment interaction by controlling polygenic background effect.

J Genet Genomics

January 2025

Department of Botany and Plant Sciences, University of California, Riverside, CA 92521, USA. Electronic address:

The QTL by environment interaction (Q×E) effect is hard to detect because there are no effective ways to control the genomic background. In this study, we propose a novel linear mixed model that simultaneously analyzes data from multiple environments to detect Q×E interactions. This model incorporates two different kinship matrices derived from the genome-wide markers to control both main and interaction polygenic background effects.

View Article and Find Full Text PDF

Assessment of the pathogenicity of Y. enterocolitica B1A isolates from San Luis, Argentina.

Gene

January 2025

Área Microbiología e Inmunología, Facultad de Química, BioquímicaArgentina y Farmacia, Universidad Nacional de San Luis, Ejercito de los Andes 950, P. O. 5700 San Luis, Argentina. Electronic address:

Yersinia enterocolitica, a bacterial enteropathogen that produces a variety of clinical manifestations in humans, includes six biotypes (B), called 1A, 1B, 2, 3, 4 and 5 and about 70 serotypes. The biotypes exhibit diverse pathogenic potential; while 1B and 2-5 may show ability to produce clinical symptoms due to the presence of chromosomal and plasmid (pYV) virulence genes, B1A is supposed a non-pathogenic biotype since it lacks pYV plasmid. Therefore, although B1A strains cause diarrhea in humans, their pathogenic potential has not yet been extensively studied.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!