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Biomedical subjects

A Vignal

Publications and source records attributed to A Vignal.

60 records · Page 4Linked to original sources

[Formation of iodotyrosines and iodothyronines in low iodinated human thyroglobulin fractionated by isopycnic ultracentrifugation].

Iodotyrosines and iodothyronines formation have been studied in thyroglobulins (Tg) extracted from porrly iodinated human thyroid tissues. After centrifugation in RbCl density gradient, various protein fractions containing different amounts of iodine have been isolated from pure Tg. The results indicate that, even after fractionation of Tg, the synthesis of thyroid hormones takes place at a very low level of iodine content. This suggests that the Tg fractions are still heterogenous and contain a large proportion of non-iodinated molecules.

Centrifugation, Isopycnic↗

[Iodoamino acid composition of rat thyroglobulin of varying total iodine concentration and fractions isolated by isopycnic ultracentrifugation].

Iodoaminoacid content (iodothyronines, T3 and T4, and iodotyrosines, MIT and DIT) has been determined in enzymatic hydrolysates of thyroglobulin Tg 19S of different iodine content (0.3-0.9%) isolated from equilibrium labeled rats. Preparative equilibrium centrifugation in RbCl density gradients of pure thyroglobulin was used to obtain protein fractions of largely different iodine content (0.2-1.2% I). Thin layer chromatography of total hydrolysates demonstrated that the distribution of iodoaminoacids depends on the total iodine content of each fraction. It is concluded, in agreement with previous results, that the native structure of Tg is an important factor in the regulation of hormone biosynthesis and that even at low iodination levels of Tg. T3 and T4 are synthesized.

Amino Acids↗

Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.

X-linked dominant inheritance was suspected in a large family with Charcot-Marie-Tooth disease since no male to male transmission was observed, and since the sensory and motor neuropathy was more severe in males than in females. To test linkage to the dominant X-linked Charcot-Marie-Tooth disease (DCMTX) locus in Xq13, genotypes of 19 affected and 19 unaffected individuals from this family were determined for 4 microsatellite markers. Close linkage to mfd66 (DXS453) was found by bipoint analysis (Zmax = 4.8 at theta = 0.00). Multipoint analysis mapped the gene between the androgen receptor and DXYS1. In addition, linkage analysis performed with 11 microsatellite markers, derived from a high density map spanning 16 cM on Xq11-Xq21 revealed 3 new tightly linked loci: afm287zg1 (DXS1216), afm261zh5 and afm207zg5 (DXS995). Multipoint analysis localized the DCMTX gene to a 7.5 cM interval between afm123xd4 (DXS988) and afm116xg1 (DXS986). Combined analysis with these new microsatellites provides a powerful tool for carrier detection because of their high informativity and the small genetic distance (< 10 cM) between the markers flanking the gene.

Blotting, Western↗

Mapping the naked neck (NA) and polydactyly (PO) mutants of the chicken with microsatellite molecular markers.

The bulked segregant analysis methodology has been used to map, with microsatellite markers, two morphological mutations in the chicken: polydactyly (PO) and naked neck (NA). These autosomal mutations show partial dominance for NA, and dominance with incomplete penetrance for PO. They were mapped previously to different linkage groups of the classical map, PO to the linkage group IV and NA being linked to the erythrocyte antigen CPPP. An informative family of 70 offspring was produced by mating a sire, heterozygous for each of the mutations, to 7 dams homozygous recessive for each locus. Three DNA pools were prepared, pool PO included 20 chicks exhibiting at least one extra-toe, pool NA included 20 non-polydactyly chicks showing the typical phenotype associated with heterozygosity for the naked neck mutation, and pool NP included 20 chicks exhibiting neither of the mutant phenotypes. Typings were done on an ABI-373 automatic sequencer with 147 microsatellite markers covering most of the genome. An unbalanced distribution of sire marker alleles were detected between pool PO, and pools NA and NP, for two markers of chromosome 2p, MCW0082 and MCW0247. A linkage analysis taking into account the incomplete penetrance of polydactyly (80% ) was performed with additional markers of this region and showed that the closest marker to the PO locus was MCW0071 (5 cM, lod score = 9). MCW0071 lies within the engrailed gene EN2 in the chicken. In the mouse, the homologous gene maps on chromosome 5, close to the hemimelic extra-toes mutation Hx. In the case of the NA locus, markers of chromosome 3 were selected because CPPP was mapped on this chromosome. Analysis of individual typings showed a linkage of 5.7 cM (lod score = 13) between the NA locus and ADL0237 in the distal region of chromosome 3q. These results contribute to connecting the former classical map to the molecular genetic map of the chicken, and open the way to the identification of the molecular nature of two developmental mutations of the chicken that are known to occur in many breeds of chickens.

Journal Article↗

[Human thyroglobulin radioimmunoassay--Preliminary results in serum and thyroid tissue (author's transl)].

A specific double antibody radioimmunoassay for the measurement of Thyroglobulin (HTg) in human serum was developed according to the method of Van Herle. The sensitivity of the assay is 2.5 ng/ml. The mean concentration of HTg in 47 normal subjects was 15,1 ng/ml. Elevated HTg levels were found in patients with Graves' disease (12 cases) and in patients with metastases of differentiated thyroid carcinomas (14 cases). In patients with metastases of differentiated thyroid carcinoma the Tg level increases under stimulation by endogenous TSH. Sera obtained after total thyroid ablation for thyroid carcinoma did not contain demonstrable amounts of HTg. This technique was also applied to the assay of HTg in thyroid tissue.

Adult↗