0000000000003890
AUTHOR
Gabriele Rittner
Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes
An increased chromosomal breakage rate (ICBR) was found in 27 of 28 patients with scleroderma (systemic sclerosis, SS) - 5 with the syndrome including calcinosis cutis, Raynaud phenomenon, esophagus hypomotility, sclerodactyly and telangiectasia (CREST), 4 incomplete CREST, 1 overlapping syndrome, 18 progressive systemic sclerosis (PSS). Not only the patients, but also about half of their first-degree relatives showed an increased chromosomal breakage rate (more than 5 breaks per 100 metaphases). This character segregated as a dominant marker in nine families of scleroderma patients. In the six informative of the nine families, the ICBR trait showed close linkage with the HLA region on chro…
Expert witness in paternity testing in Germany.
In Germany, paternity testing can be ordered by a judge as well as by private persons. In the case of private counselling, the expert has the duty to inform the parties on all medical, legal and ethical aspects. Informed consent must be given by each individual included in an exploration of family relationships. Due to the rapid progress of DNA typing in even minute amounts after polymerase chain reaction amplification, genotypes of short tandem repeat systems can be elicited by extraction from single cells. Therefore, the number of unlawful investigations of paternal relationships is steadily increasing. Here the requirements for paternity testing laboratories and sanctions for unlawful ex…
PCR Typing of Alu Elements — Molecular Genetics and Forensic Application
Alu repeats belong to the family of short interspersed elements (SINEs) and are among the most abundant repetitive DNA sequences in the mammalian genome. They represent mobile genetic elements ancestrally derived from the 7SL RNA gene and have presumably spread within the genome by retroposition (reviewed in [1]). A particular group of Alu repeats appears to be human-specific (HS subfamily) and has expanded only recently within the human genome as indicated by distinct dimorphisms at various loci due to the presence or absence of an Alu repeat. In recent extensive studies, the frequency distributions of Alu insertions at selected loci in various human racial groups and populations were dete…
Chromosomal aberrations in patients with primary biliary cirrhosis.
Chromosomal aberrations in untreated lymphocyte cultures, bleomycin (BLM)-induced aberrations and sister chromatid exchanges (SCE) in the peripheral blood lymphocytes of 11 patients suffering from primary biliary cirrhosis (PBC) and 14 matched control individuals were analysed. The lymphocytes of the PBC patients had on average a lower mitotic index (2.3) compared with controls (3.5) in the untreated cultures. The mean baseline rate of aberrations of the cultured lymphocytes of the patients was 5.3 aberrations per 100 metaphases (%); this was significantly different (P = 0.0291) from that of the controls with a mean of 2.3%. In lymphocytes of the patients and controls, most of the aberratio…
The Relevance of Genetic Factors in Tumor Therapy and the Underlying Pharmacogenetic Principles
In the following chapter it is shown that only by the combination of pharmacological and genetic research programs new relevant findings of tumor formation and progression can be gained. This then lead to an improved and individualized therapy of the patients in the area of application.
A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature
There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four-generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years had (mild) nephrogenic diabetes insipidus. In her father with CDI, a known pathogenic heterozygous AVP variant c.232_234del p.(Glu78del) was identified, confirming the diagnosis of CDI in him and the other affected family members. In the proband, molecular analysis disclosed a novel heterozygous AVPR2 gene variant, c.962A > T p.(Asn321Ile) and an extremely skewed X-in…