Background: Short tandem repeat polymorphisms (STRPs) are powerful tools for gene mapping and other applications. A STRP genome scan of 10 cM is usually adequate for mapping single gene disorders. However mapping studies involving genetically complex disorders and especially association (linkage disequilibrium) often require higher STRP density.
Results: We report the development of two separate 10 cM human STRP Screening Sets (Sets 12 and 52) which span all chromosomes. When combined, the two Sets contain a total of 782 STRPs, with average STRP spacing of 4.8 cM, average heterozygosity of 0.72, and total sex-average coverage of 3535 cM. The current Sets are comprised almost entirely of STRPs based on tri- and tetranucleotide repeats. We also report correction of primer sequences for many STRPs used in previous Screening Sets. Detailed information for the new Screening Sets is available from our web site: http://research.marshfieldclinic.org/genetics.
Conclusion: Our new human STRP Screening Sets will improve the quality and cost effectiveness of genotyping for gene mapping and other applications.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC152641 | PMC |
| http://dx.doi.org/10.1186/1471-2164-4-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Hierarchical Porous Microspheres-Assisted Serum Metabolic Profile for the Early Diagnosis and Surveillance of Postmenopausal Osteoporosis.
Anal Chem
December 2024
Department of Chemistry, Institutes of Biomedical Sciences, Zhongshan Hospital, Fudan University, Shanghai 200433, China.
With the aging global population, the incidence of osteoporosis (OP) is increasing, putting more individuals at risk. Since postmenopausal osteoporosis (PMOP) often remains asymptomatic until a fracture occurs, making the early clinical diagnosis of PMOP particularly challenging. In this work, the AuNPs-anchored hierarchical porous ZrO microspheres (Au/HPZOMs) is designed to assist laser desorption/ionization mass spectrometry (LDI-MS) for the requirement of serum metabolic fingerprints of PMOP, postmenopausal osteopenia (PMON), and healthy controls (HC) and realize the early diagnosis and surveillance of PMOP.
View Article and Find Full Text PDFDifferences associated with different prior mental disorders among earthquake-exposed treatment-seeking individuals.
BJPsych Open
December 2024
Department of Psychological Medicine, University of Otago, Christchurch, New Zealand.
Article Synopsis
- The study explores how a history of mental disorders, especially PTSD, influences the severity of PTSD symptoms in people affected by earthquakes, highlighting the need for better understanding in treatment.
- Researchers compared individuals with prior mental disorders to those without and found that those with any past mental issues tend to experience more current psychological disorders.
- The results indicate that while prior PTSD patients faced more life challenges, the presence of any previous mental disorder doesn't necessarily lead to more severe PTSD, suggesting the importance of screening for all trauma survivors, regardless of their mental health history.
Prevalence of depression and anxiety among university students in Jeddah, Saudi Arabia: exploring sociodemographic and associated factors.
Front Public Health
December 2024
Faculty of Pharmacy, King Abdulaziz University, Jeddah, Saudi Arabia.
Introduction: Previous studies have shown that mental health issues such as depression and anxiety are on the rise globally, particularly among university students. The aim of this study is to assess the prevalence of depressive and anxiety symptoms among university students, and the associated potential risk factors, in Jeddah, Saudi Arabia.
Methods: A cross-sectional questionnaire study was conducted in a sample of 728 students who anonymously completed three sets of questionnaires: a sociodemographic and lifestyle information questionnaire, the Patient Health Questionnaire-9 (PHQ-9) to screen for depressive symptoms and the Generalized Anxiety Disorder-7 (GAD-7) scale to screen for anxiety symptoms.
Comprehensive assessment of risk factors and development of novel predictive tools for perioperative hidden blood loss in intertrochanteric femoral fractures: a multivariate retrospective analysis.
Eur J Med Res
December 2024
Department of Orthopedics, The Yangzhou School of Clinical Medicine of Dalian Medical University, Yangzhou, Jiangsu, China.
Objectives: To identify independent risk factors for perioperative hidden blood loss (HBL) in intertrochanteric femoral fractures (ITFs) and to develop a predictive model.
Methods: We enrolled 231 patients with ITFs who underwent proximal femoral nail antirotation (PFNA) surgery at the Orthopedics Department of Northern Jiangsu People's Hospital, Jiangsu Province, China, from January 2021 to December 2023. Hidden blood loss was calculated using the OSTEO formula, and independent risk factors were screened using the Least Absolute Shrinkage and Selection Operator (LASSO) logistic regression.
Independent Validation of a HER2-low Focused IHC Scoring System for Enhanced Pathologist Precision and Consistency.
Mod Pathol
December 2024
Anatomical Pathology, Peter MacCallum Cancer Centre, Melbourne, Australia.
For two decades the ASCO CAP HER2 testing criteria have included 0 and 1+ scores, but this distinction was inconsequential. Now, based on the DESTINY Breast-04 Trial (DB-04) results, for patients with metastatic breast cancer it underpins eligibility for T-DXd treatment. Discerning 0 from 1+ IHC staining is challenging, as HER2 low is not a biologically distinct cancer subset, there are no reference standards or controls and second-tier tests do not apply.
View Article and Find Full Text PDFWant 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!