Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

DNA isolation and Southern Blot analysis are two of the many techniques currently being used routinely by molecular biologists to discover genetic defects that affect human health. Together these two techniques have greatly aided in the growing knowledge of genetics on a molecular level. Southern blotting can be used to discern genetic deletions, alterations, or amplifications that are not detectable by cytogenetic methods. Several examples of the clinical applications of these methods are discussed in Table 4. Southern analysis has been recently used: (1) to facilitate prenatal diagnosis of sickle cell hemoglobinopathies, (2) to demonstrate human papillomavirus DNA integration in the genome of cervical cancer cells and (3) to demonstrate that oncogene amplification in the tumors of patients with node positive breast cancer correlates inversely with prognosis. Each of these examples not only have diagnostic value for patient care but also may help begin to understand the very basis of the disease processes themselves.
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PMID:DNA isolation and Southern analysis: a clinician's view. 215 12

The recent report of the U.S. Preventive Services Task Force is a compendium of the scientific evidence supporting clinical preventive services that might be offered by primary care physicians. Pediatric recommendations include height, weight and blood pressure measurements, neonatal screening for hemoglobinopathies and counseling about injury prevention, diet and exercise, sexual behavior, substance abuse and dental health. Lead screening is recommended in communities with a high prevalence of elevated lead levels. Adult recommendations include measurement of blood pressure and weight, selective screening for elevated total cholesterol level, screening persons over age 50 for colorectal cancer, screening women for cervical cancer at least every three years, and screening women 50 to 69 years of age for breast cancer with mammography every one to two years. Counseling patients about substance abuse, diet and exercise, injury prevention, sexual behavior and dental health is recommended. Women of childbearing age should receive folic acid supplementation to prevent neural tube defects if they should become pregnant. Multiple marker testing is recommended for women over age 35 to screen for Down syndrome. Immunization recommendations are similar to those of other national groups.
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PMID:U.S. Preventive Services Task Force: highlights of the 1996 report. 931 58