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排序方式: 共有1385条查询结果,搜索用时 15 毫秒
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2.
Carrier diagnosis of Duchenne muscular dystrophy using restriction fragment length polymorphisms 总被引:6,自引:0,他引:6
Molecular probes that are tightly linked to and flank the Duchenne muscular dystrophy (DMD) locus, have been used to characterize DMD mutations and diagnose female carriers. Deletions within the Xp21 region were identified for 8 of 71 families studied. Using both DNA and CK studies, accurate (96 to 98%) carrier or noncarrier diagnoses were made for 51 of 75 females at risk in 24 families with a single affected male. DNA studies resulted in an alteration of predicted risk in 40% of the cases. Recombinant diagnostic methods are useful for carrier detection in families with one or more affected males. 相似文献
3.
Gordon Winocur Fergus I M Craik Brian Levine Ian H Robertson Malcolm A Binns Michael Alexander Sandra Black Deirdre Dawson Heather Palmer Tara McHugh Donald T Stuss 《Journal of the International Neuropsychological Society》2007,13(1):166-171
This study provides an overview of the papers emanating from the experimental trial that evaluated a new cognitive rehabilitation program in older adults who were experiencing normal cognitive decline. The main features of the design are summarized, along with evidence that the training produced long-lasting improvement in memory performance, goal management, and psychosocial status. The benefits were attributed to several factors, including the program's emphasis on techniques that promoted efficient strategic processing. Limitations of the program and directions for future research are discussed. 相似文献
4.
A questionnaire on anxiety disorder services was sent to 240 Canadian hospitals, of which 117 responded. Eighteen of the responding hospitals had anxiety disorder clinics and saw an average of 208 patients a year. These clinics appear to be scarce although, according to epidemiological studies, there is a high prevalence of anxiety disorders in the community. The specific diagnoses of the patients seen in the specialty clinics and the treatments offered generally followed international patterns. 相似文献
5.
Ellen Bialystok Fergus I M Craik 《Journal of the International Neuropsychological Society》2007,13(2):209-11; discussion 215-8
The article by Gollan, Fennema-Notestine, Montoya, and Jernigan (2007, this issue) raises important issues about the, effects of bilingualism on naming test performance in older adults. In particular, proficiency in their two languages determines the ability with which older bilingual adults can name pictures in each of those languages. This observation is important if cognitive status is inferred from naming performance. In this commentary we largely endorse the arguments made by Gollan and colleagues, although we point to some limitations in their experimental design. 相似文献
6.
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy 总被引:7,自引:6,他引:7
While an unstable CTG triplet repeat expansion is responsible for myotonic
dystrophy, the mechanism whereby this genetic defect induces the disease
remains unknown. To detect proteins binding to CTG triplet repeats, we
performed bandshift analysis using as probes double- stranded DNA fragments
having CTG repeats [ds(CTG)6-10] and single- stranded oligonucleotides
having CTG repeats ss(CTG)8 or RNA CUG triplet repeats (CUG)8. The source
of protein was nuclear and cytoplasmic extracts of HeLa cells, fibroblasts
and myotubes. Proteins binding to the double-stranded DNA repeat
[ds(CTG)6-10], were inhibited by nonlabeled ds(CTG)6-10, but not by a
non-specific DNA fragment (USF/AD-ML). Another protein binding to ssCTG
probe and RNA CUG probe was inhibited by nonlabeled (CTG)8 and (CUG)8.
Nonlabeled oligos with different triplet repeat sequences, ss(CAG)8 or
ss(CGG)8, did not inhibit binding to the ss(CTG)8 probe. However, when
labeled as probes, the (CAG)8 and (CGG)8 bound to proteins distinct from
the CTG proteins and binding was inhibited by nonlabeled (CAG)8 or (CGG)8
respectively. The protein binding only to the RNA repeat (CUG)8 was
inhibited by nonlabeled (CUG)8 but not by nonlabeled single- or
double-stranded CTG repeats. Furthermore, the CUG-BP exhibited no binding
to an RNA oligonucleotide of triplet repeats of the same length but having
a different sequence, CGG. The CUG binding protein was localized to the
cytoplasm, whereas dsDNA binding proteins were localized to the nuclear
extract. Thus, several trinucleotide binding proteins exist and their
specificity is determined by the triplet sequence. The novel protein,
CUG-BP, is particularly interesting since it binds to triplet repeats known
to be present in myotonin protein kinase mRNA which is responsible for
myotonic dystrophy.
相似文献
7.
8.
M Grompe N Rao F F Elder C T Caskey F Greenberg 《American journal of medical genetics》1992,42(1):39-43
We present a patient with 45,X/46,X,+r(X) mosaicism and lack of inactivation of either the normal or the ring X in the 46,X,+r(X) cells. The patient has mental retardation, syndactyly, minor facial anomalies, and a congenital heart defect. Although most patients with 45,X/46,X,+r(X) have the Ullrich-Turner syndrome, 2 previously described patients with this karyotype also had a distinct phenotype consisting of severe mental retardation, syndactyly, and abnormal face. The unusually severe phenotype in these patients was thought to be due to lack of X-inactivation of the ring X chromosome. The findings in our patient support this hypothesis. 相似文献
9.
Applications of recombinant DNA to pathologic diagnosis 总被引:1,自引:0,他引:1
Recombinant DNA techniques are contributing to the understanding of the pathogeneses of genetic, neoplastic, and viral diseases, and are used in the diagnosis of certain genetic and viral diseases. Such techniques will have wider application in the future and will play an increasing role in the clinical laboratory. The technology of this field rests upon the cleavage of DNA by certain enzymes, restriction endonucleases, and upon the ability to locate specific sequences of nucleotides in a cleaved DNA sample by using known fragments of DNA ("probes") labeled with radioisotopes or biotin. To produce useful probes, one "clones" multiple copies of the same DNA fragment in bacteria. The use of DNA probes in the clinical laboratory is valuable in antenatal diagnosis, genetic counseling, and post-natal diagnosis of genetic diseases, especially hematologic diseases and inborn errors of metabolism. DNA probes can also be used to detect viral genetic material in clinical specimens. 相似文献
10.
Rodney C. G. Franklin David J. Spiegelhalter Fergus J. Macartney Kate Bull 《Journal of clinical monitoring and computing》1990,6(3):157-166
When a new-born baby with congenital heart disease is referred to a regional specialist centre, the transportation management is crucial but must be decided on the basis of clinical information obtained over the telephone. We consider algorithmic and naive statistical approaches to helping in this decision, and on the basis of preliminary results the relative strengths and weaknesses are discussed. A synthesised logical and probabilistic approach appears to have the best potential and could be implemented on hand-held computers.Paper presented at symposium on Computer-assisted Decision Support and Database Management in Anaesthesia, Intensive Care and Cardio-pulmonary Medicine, Rotterdam, 1988. 相似文献