41 symptom-free individuals aged 0-39 years who were at risk of familial adenomatous polyposis (FAP) were genotyped with six linked DNA probes. 28 individuals were informative for probes flanking the gene and 14 people assigned a probe-derived risk of over 0.93 were subsequently shown to be affected by clinical screening. 4 individuals who had been discharged from follow-up were designated high risk by this method. In those screened negative, risk was calculated from genotypic, colonic, and CHRPE findings and 89% of subjects had a risk below 0.003. An integrated risk analysis may have an important place in screening programmes for FAP.

Download full-text PDF

Source
http://dx.doi.org/10.1016/0140-6736(91)90940-qDOI Listing

Publication Analysis

Top Keywords

linked dna
8
familial adenomatous
8
adenomatous polyposis
8
risk
6
dna markers
4
markers presymptomatic
4
presymptomatic diagnosis
4
diagnosis familial
4
polyposis symptom-free
4
symptom-free individuals
4

Similar Publications

Cardiovascular diseases (CVDs) include atherosclerosis, which is an inflammatory disease of large and medium vessels that leads to atherosclerotic plaque formation. The key factors contributing to the onset and progression of atherosclerosis include the pro-inflammatory cytokines interferon (IFN)α and IFNγ and the pattern recognition receptor (PRR) Toll-like receptor 4 (TLR4). Together, they trigger the activation of IFN regulatory factors (IRFs) and signal transducer and activator of transcription (STAT)s.

View Article and Find Full Text PDF

Genomic analysis has played a significant role in the identification of driver mutations that are linked to disease progression and response to drug treatment in ovarian cancer. A prominent example is the stratification of epithelial ovarian cancer (EOC) patients with homologous recombination deficiency (HRD) characterized by mutations in DNA damage repair genes such as for treatment with PARP inhibitors. However, recent studies have shown that some epithelial ovarian tumors respond to PARP inhibitors irrespective of their HRD or mutation status.

View Article and Find Full Text PDF

Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.

J Endocr Soc

January 2025

Cellular and Molecular Endocrinology Laboratory LIM/25, Division of Endocrinology and Metabolism, Clinicas Hospital, School of Medicine, University of Sao Paulo, 01246-903 Sao Paulo, Brazil.

Human puberty is a dynamic biological process determined by the increase in the pulsatile secretion of GnRH triggered by distinct factors not fully understood. Current knowledge reveals fine tuning between an increase in stimulatory factors and a decrease in inhibitory factors, where genetic and epigenetic factors have been indicated as key players in the regulation of puberty onset by distinct lines of evidence. Central precocious puberty (CPP) results from the premature reactivation of pulsatile secretion of GnRH.

View Article and Find Full Text PDF

Background: Resistin may connect obesity and intervertebral disc (IVD) degeneration (IDD) and is linked with chronic inflammation. Furthermore, human IDD is characterized by high expression of interleukin-20 (IL-20). The response of human nucleus pulposus (NP) cells to tensile forces depends on both the duration and magnitude of the force applied.

View Article and Find Full Text PDF

Objective: Ocular toxoplasmosis, caused by , is a significant cause of posterior uveitis and vision impairment globally. Accurate diagnosis is essential to prevent retinal damage and optimise treatment. This study aimed to compare three diagnostic methods funduscopy, serology (ELISA), and PCR in detecting ocular toxoplasmosis in patients at ECWA Eye Hospital, Kano, Nigeria.

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!