Biomedical subjects

T Lindner

Publications and source records attributed to T Lindner.

31 records · Page 2Linked to original sources

PubMed1997

Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.

Recent studies have shown that mutations in the transcription factor hepatocyte nuclear factor (HNF)-1 alpha are the cause of one form of maturity-onset diabetes of the young (MODY3). These studies have identified mutations in the mRNA and protein coding regions of this gene that result in the synthesis of an abnormal mRNA or protein. Here, we report an Italian family in which an A-->C substitution at nucleotide-58 of the promoter region of the HNF-1 alpha gene cosegregates with MODY. This mutation is located in a highly conserved region of the promoter and disrupts the binding site for the transcription factor HNF-4 alpha, mutations in the gene encoding HNF-4 alpha being another cause of MODY (MODY1). This result demonstrates that decreased levels of HNF-1 alpha per se can cause MODY. Moreover, it indicates that both the promoter and coding regions of the HNF-1 alpha gene should be screened for mutations in subjects thought to have MODY because of mutations in this gene.

Animals↗

PubMed1997

[Occurrence of helminths in slaughtered sheep in Upper Bavaria. 2. Relationship between fecal egg count and worm burden].

The relationship between the faecal egg count and the worm burden of the gastrointestinal tract of sheep was examined. Close relationships were found in strongyles, Trichostrongylidae (other than Nematodirus spp.), Nematodirus spp., Strongyloides papillosus, Chabertiidae and Trichuris spp.. Due to high percentage of false negative diagnosis from faecal examination, this relationship was in Nematodirus spp. and Trichuris spp. not as close as in the other nematodes. However, the results support the high diagnostic value of quantitative faecal examinations in sheep.

Abattoirs↗

PubMed1997

[Helminth infection of slaughtered sheep in Upper Bavaria. 3. Distribution of colonization of nematodes in the large intestine of sheep].

The distribution of Chabertia (Ch.) ovina, Oesophagostomum (O.) venulosum and Trichuris spp. within the large intestine of naturally infected sheep in the dependence of worm counts and the presence of nematodes of other species or genera was evaluated. The large intestine was divided into 4 sections. More than 75% of Ch. ovina were found within the disk-like section of the colon independently from worm count and presence of nematodes of other species. O. venulosum and Trichuris spp. preferred the caecum and the first section of the colon up to the beginning of the disk-like section. In both, the share of worms recovered from the first section of the colon did increase with higher worm counts. The simultaneous presence of O. venulosum and Trichuris spp. had a significantly negative influence on the share of Trichuris spp. isolated from the caecum.

Abattoirs↗

PubMed1996

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

Non-insulin-dependent (type 2) diabetes mellitus (NIDDM) is a common disorder of middle-aged individuals characterized by high blood glucose levels which, if untreated, can cause serious medical complications and lead to early death. Genetic factors play an important role in determining susceptibility to this disorder. However, the number of genes involved, their chromosomal location and the magnitude of their effect on NIDDM susceptibility are unknown. We have screened the human genome for susceptibility genes for NIDDM using non-and quasi-parametric linkage analysis methods in a group of Mexican American affected sib pairs. One marker, D2S125, showed significant evidence of linkage to NIDDM and appears to be a major factor affecting the development of diabetes mellitus in Mexican Americans. We propose that this locus be designated NIDDM1.

Chromosomes, Human, Pair 2↗

PubMed1996

An approach for identifying simple sequence repeat DNA polymorphisms near cloned cDNAs and genes. Linkage studies of the islet amyloid polypeptide/amylin and liver glycogen synthase genes and NIDDM.

Genetic factors contribute to the development of NIDDM, and genes involved in regulating pancreatic beta-cell function and insulin's effects on glucose metabolism are good candidates for being NIDDM susceptibility loci. However, testing candidate genes for linkage to NIDDM depends on the identification of highly informative DNA polymorphisms in or near the candidate locus. Here we describe an approach for identifying highly polymorphic markers near candidate genes that utilizes the emerging physical map of the human genome. A sequence-tagged site from the candidate gene is used to screen the Centre d'Etude du Polymorphisme Humain megabase-insert yeast artificial chromosome library, which contains information on the physical localization of >3,000 genetically mapped simple sequence repeat DNA polymorphisms. Thus, identification of a yeast artificial chromosome containing the candidate locus will in many instances also identify a physically linked simple sequence repeat DNA polymorphism that can be used as a marker for the candidate gene in linkage studies. We have used this approach to identify a marker for the islet amyloid polypeptide gene on chromosome 12. The physical mapping of this gene to a yeast artificial chromosome showed that it was in the same yeast artificial chromosome as the gene encoding liver glycogen synthase, another possible NIDDM susceptibility gene. Affected sib pair studies using a simple sequence repeat DNA polymorphism physically linked to the islet amyloid polypeptide and liver glycogen synthase genes showed no evidence for linkage with NIDDM, indicating that they are not major genes contributing to NIDDM susceptibility.

Amyloid↗

PubMed1989