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2 Journal of Applied Genetics

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Usefulness of microsatellite markers in identification of family members carrying a mutation of the b-myosin heavy chain gene in families with hypertrophic cardiomyopathy

100%

Smolik S. , Domal-Kwiatkowska D.-K. D. , Domal-Kwiatkowska D. , Mazurek M. U. , Mazurek U. , Moric M. E. , Moric E. , Nowalany-Kozielska N.-K. E. , Nowalany-Kozielska E. , Glanowska G. G. , Glanowska G. , Kozakiewicz K. K. , Kozakiewicz K. , Wodniecki W. J. , Wodniecki J. , Tendera T. M. , Tendera M. , Wilczok W. T. , Wilczok T.

nr 3

199-208

Familial hypertrophic cardiomyopathy (FHC) is characterised by autosomal dominant transmission, left ventricular hypertrophy and myocardial disarray. Genetic assessment is of special importance in this disease. Missense mutations of the gene coding for the b-myosin heavy chain (bMHC) have been identified as statistically the most important cause of the disease. Identification of specific mutations may be difficult, thus a simpler method of disease carrier identification is needed. We performed haplotype analysis of six Polish families (47 individuals) with three microsatellite markers located at the bMHC locus. Linkage of the disease locus to the bMHC gene was excluded in 4 out of the 6 families analysed. In 2 families particular haplotypes were coinherited with the disease phenotype. Microsatellite markers allowed identification of 2 carriers of the disease gene in these families among children of the patients.

Is the recently discovered EDA gene associated with anhidrotic ectodermal dysplasia?

100%

Kobielak K. , Kobielak A. , Trzeciak W. H.

nr 3

343-357

The evidence from literature strongly suggests that Christ Siemens Touraine (CST) syndrome is associated with mutations of the newly discovered EDA gene. The gene is situated on the long arm of the X chromosome (Xq12.2 q13.1) and contains two exons separated by a 200 kbp intron. The 5' untranslated region and most of the coding sequence are localized in exon 1, while three C terminal amino acids are encoded by exon 2. The coding sequence was interrupted by translocations in three affected females: t(X;1), t(X;12), t(X;9), and submicroscopic deletions of the EDA gene were found in five males with CST syndrome, and point mutations were discovered in exon 1 in nine other patients. Northern blot analysis and in situ hybridization studies revealed that the EDA gene was expressed in the foetus, and postnatally in a specific type of skin cell and that the expression was limited to cells of ectodermal origin. A predicted protein product of the EDA gene contains 135 to 140 amino acids, organized in three distinct domains and may belong to class II transmembrane receptors.