Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A large CMT family with 5 affected males and 10 affected females of 37 members in four generations was investigated by recombinant DNA studies. The proband patient in his original description of the pedigree indicated male-to- male transmission in one of his relatives, suggesting autosomal dominant inheritance. The genetic linkage study between the CMT locus and the loci of six markers mapped on chromosome 1 (FY, APCS, AT3, REN, APOA2, and GBA) gave negative results. These findings prompted further pedigree investigation which proved that male-to-male transmission was not present. A genetic linkage study with DXYS1, which is a DNA marker mapped on the long arm of the chromosome X, revealed tight linkage with z = 3.15 at theta = 0.10.
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PMID:X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study. 322 32

An index measuring the utility of testing a DNA marker before deciding between two alternative treatments is proposed which can be estimated from pharmaco-epidemiological case-control or cohort studies. In the case-control design, external estimates of the prevalence of the disease and of the frequency of the genetic risk variant are required for estimating the utility index. Formulas for point and interval estimates are derived. Empirical coverage probabilities of the confidence intervals were estimated under different scenarios of disease prevalence, prevalence of drug use, and population frequency of the genetic variant. To illustrate our method, we re-analyse pharmaco-epidemiological case-control data on oral contraceptive intake and venous thrombosis in carriers and non-carriers of the factor V Leiden mutation. We also re-analyse cross-sectional data from the Framingham study on a gene-diet interaction between an APOA2 polymorphism and high saturated fat intake on obesity. We conclude that the utility index may be helpful to evaluate and appraise the potential clinical and public health relevance of gene-environment interaction effects detected in genomic and candidate gene association studies and may be a valuable decision support for designing prospective studies on the clinical utility.
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PMID:Making medical decisions in dependence of genetic background: estimation of the utility of DNA testing in clinical, pharmaco-epidemiological or genetic studies. 2355 81