scispace - formally typeset
Search or ask a question
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.


Papers
More filters
Journal ArticleDOI
TL;DR: Investigating the mechanism underlying the meiotic instability of expanded CAG repeats in the gene for DRPLA determined the CAG repeat sizes of 427 single sperm from two individuals with DRPLA, which are consistent with the clinical observation that the genetic anticipation on the paternal transmission of DRPLA is the most prominent among C AG repeat diseases.
Abstract: Dentatorubral-pallidoluysian atrophy (DRPLA) is known to show the most prominent genetic anticipation among CAG repeat diseases. To investigate the mechanism underlying the meiotic instability of expanded CAG repeats in the gene for DRPLA, we determined the CAG repeat sizes of 427 single sperm from two individuals with DRPLA. The mean variance of the change in the CAG repeat size in sperm from the DRPLA patients (288.0) was larger than any variances of the CAG repeat size in sperm from patients with Machado-Joseph disease (38. 5), Huntington's disease (69.0) and spinal and bulbar muscular atrophy (16.3), which is consistent with the clinical observation that the genetic anticipation on the paternal transmission of DRPLA is the most prominent among CAG repeat diseases. The variance of the change in CAG repeat size was significantly different between the two DRPLA patients (F-test, P < 0.0001). However, the segregation ratio of single sperm with an expanded allele to ones with a normal allele is not statistically different ( P = 0.161) from the expected 1:1 segregation ratio, and thus segregation distortion of expanded alleles in meiosis in male patients with DRPLA was not demonstrated.

33 citations

Journal ArticleDOI
TL;DR: An increased platelet A2A receptor Bmax may belong in a cascade of toxic events leading to earlier onset of HD: as such it could be a useful marker of onset anticipation.
Abstract: Huntington's disease (HD) may manifest at an earlier age in affected offspring than in transmitting parents. Earlier onset in successive generations (anticipation) only partially depends on intergenerational parent-child elongation of the CAG expanded mutation. An aberrant amplification of adenosine A(2A) receptor signaling documented in peripheral blood cells of subjects with HD implies that this cellular dysfunction may be related to clinical and genetic features. Prompted by evidence of higher receptor densities in siblings of HD subjects with stronger onset anticipation, in this study we investigated a possible relationship between A(2A) receptor densities and age at onset. We measured adenosine A(2A) receptor densities in blood cell platelets from 32 patients with HD and healthy control siblings, and sought a possible linear correlation between maximum platelet A(2A) receptor binding (B(max)) values for the whole cohort of HD subjects and anticipation in years. The increased B(max) values for the 32 subjects with HD (220 in patients vs. 137 in healthy control subjects, P = 0.0001) correlated significantly with anticipation in years (r2, 0.48, P = 0.0001 by linear correlation analysis). An increased platelet A(2A) receptor B(max) may belong in a cascade of toxic events leading to earlier onset of HD: as such it could be a useful marker of onset anticipation.

33 citations

Journal ArticleDOI
TL;DR: There is a tendency for children to be younger than their parents at the time of diagnosis of familial IBD, and that this difference in mean AAD is almost doubled for grandparent/grandchild pairs, but these differences are most likely due to a bias based on length of follow-up or recent multigenerational temporal changes in the risk of IBD.

33 citations

Journal ArticleDOI
TL;DR: The efforts toward the identification of RLS genes must continue in order to obtain a better characterization of the syndrome and to identify new therapeutic strategies.

32 citations


Performance
Metrics
No. of papers in the topic in previous years
YearPapers
202116
202013
201911
201818
201716
201615