Topic
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.
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TL;DR: This work reviews the heritability of location, familial susceptibility to cigarette smoking, and whether "anticipation" of aneurysm formation has been published and summarizes what it gathered.
Abstract: It is well established that family members of those individuals with intracranial aneurysm are at high risk of intracranial aneurysms. In the past several years, more information on the heritability of location, familial susceptibility to cigarette smoking, and whether “anticipation” of aneurysm formation has been published. We review these three topics in detail and summarize what we gathered from this information.
TL;DR: Data suggest that SCA2 lineages may tend to disappear eventually, due to strong anticipation phenomena, and whether or not the novel cases come from common haplotypes associated with a predisposition to further expansions is a question that needs to be addressed by future studies.
Abstract: Dominant diseases due to expanded CAG repeat tracts, such as spinocerebellar ataxia type 2 (SCA2), are prone to anticipation and worsening of clinical picture in subsequent generations. There is insufficient data about selective forces acting on the maintenance of these diseases in populations. We made a systematic review and meta-analysis on the effect of the CAG length over age at onset, instability of transmissions, anticipation, de novo or sporadic cases, fitness, segregation of alleles, and ancestral haplotypes. The correlation between CAG expanded and age at onset was r2 = 0.577, and transmission of the mutant allele was associated with an increase of 2.42 CAG repeats in the next generation and an anticipation of 14.62 years per generation, on average. One de novo and 18 sporadic cases were detected. Affected SCA2 individuals seem to have more children than controls. The expanded allele was less segregated than the 22-repeat allele in children of SCA2 subjects. Several ancestral SCA2 haplotypes were published. Data suggest that SCA2 lineages may tend to disappear eventually, due to strong anticipation phenomena. Whether or not the novel cases come from common haplotypes associated with a predisposition to further expansions is a question that needs to be addressed by future studies.
TL;DR: Anticipation is a phenomenon in which children have a more severe illness than their parents as mentioned in this paper, with an earlier age of onset and more frequent episodes of anticipation, and it occurs more frequently in children than adults.
Abstract: Anticipation -- a phenomenon in which children have a more severe illness than their parents, with an earlier age of onset and more frequent episodes