Anticipation (genetics)

About: Anticipation (genetics) is a research topic. Over the lifetime, 669 publications have been published within this topic receiving 21784 citations. The topic is also known as: Genetic Anticipation & Anticipation, Genetic.

Anticipation in familial pancreatic cancer

Abstract: Background: Previous studies of anticipation in familial pancreatic cancer have been small and subject to ascertainment bias Our aim was to determine evidence for anticipation in a large number of European families Patients and methods: A total of 1223 individuals at risk from 106 families (264 affected individuals) were investigated Generation G3 was defined as the latest generation that included any individual aged over 39 years; preceding generations were then defined as G2 and G1 Results: With 80 affected child-parent pairs, the children died a median (interquartile range) of 10 (7, 14) years earlier The median (interquartile range) age of death from pancreatic cancer was 70 (59, 77), 64 (57, 69), and 49 (44, 56) years for G1, G2, and G3, respectively These indications of anticipation could be the result of bias Truncation of Kaplan-Meier analysis to a 60 year period to correct for follow up time bias and a matched test statistic indicated significant anticipation (p = 0002 and p 0001) To minimise bias further, an iterative analysis to predict cancer numbers was developed No single risk category could be applied that accurately predicted cancer cases in every generation Using three risk categories (low with no pancreatic cancer in earlier generations, high with a single earlier generation, and very high where two preceding generations were affected), incidence was estimated without significant error Anticipation was independent of smoking Conclusion: This study provides the first strong evidence for anticipation in familial pancreatic cancer and must be considered in genetic counselling and the commencement of secondary screening for pancreatic cancer

Cysltr2 polymorphisms in aspirin intolerance in asthma

Abstract: CysLTR2(cysteinyl-leukotriene receptor 2) polymorphisms associated with aspirin intolerance in asthma are provided to diagnose and anticipate the aspirin intolerance, and develop drugs for controlling aspirin intolerance The CysLTR2 polymorphisms for diagnosis and anticipation of aspirin intolerance are provided, wherein the CysLTR2 polymorphisms include CysLTR2-819G>T, CysLTR2+2079C>T, CysLTR2+2534A>G and CysLTR2+2842A>G gene polymorphisms

[From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1].

Abstract: Myotonic dystrophy type 1 is the most common muscular dystrophy in adults. Clinical features are variable and include myotonia, a slowly progressive muscle weakness and organ complications. Inheritance is autosomal dominant and characterised by anticipation, i.e. an earlier age of onset and more severe clinical course in subsequent generations, and exclusively maternal transmission of the most severe congenital type. The myotonic dystrophy type 1 mutation is an untranslated cytosine-thymine-guanine (CTG) expansion in the 'dystrophia myotonica-protein kinase' (DMPK) gene. The repeat expansion alters RNA processing, including alternative splicing of several genes and the expression of several transcription factors. Furthermore, reduced DMPK protein levels are present and it is proposed that the expanded CTG repeat has a local effect on genes in the myotonic dystrophy type 1 region by altering the chromatin structure.

The Treatment of the Auto-Intoxications of Pregnancy by Thyroid Extract; the Anticipation of Impending Eclampsia.

Abstract: a question upon which much attention has recently been directed. "While it is not yet fully established that organic disease can originate in this way, it is quite certain that very grave functional disturbances may be produced. When the complex processes of metabolism are perfectly performed, and at the same time there is efficient elimination of waste products, then auto-intoxication will not occur. It is probably seldom, however, that this ideal state of matters exists; consequently every one is liable at times to suffer from attacks of toxaemia. In some the toxins may. only produce transient symptoms which, although unpleasant, are not dangerous. In others the results may be of a most serious