ArticleAmerican journal of human genetics1996
Analysis of meiotic segregation, using single-sperm typing: meiotic drive at the myotonic dystrophy locus.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.Genetics · 2026Pooled it
- Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?European journal of human genetics : EJHG · 2012Pooled it
- Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice.Genetics · 2017Article
- Hot and cold spots of recombination in the human genome: the reason we should find them and how this can be achieved.American journal of human genetics · 2003Review
- Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.American journal of human genetics · 2000Article
- SPERMSEG: analysis of segregation distortion in single-sperm data.American journal of human genetics · 1999Article
- Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.American journal of human genetics · 1999Article
- Genetic analysis of meiotic recombination in humans by use of sperm typing: reduced recombination within a heterozygous paracentric inversion of chromosome 9q32-q34.3.American journal of human genetics · 1998Article
- FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Meiotic drive at the myotonic dystrophy and the cone-rod dystrophy loci on chromosome 19q13.3.American journal of human genetics · 1997Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Meiotic drive at the myotonic dystrophy (DM) locus has recently been suggested as being responsible for maintaining the frequency, in the human population, of DM chromosomes capable of expansion to the disease state. In order to test this hypothesis, we have studied samples of single sperm from three individuals heterozygous at the DM locus, each with one allele larger and one allele smaller than 19 CTG repeats. To guard against the possible problem of differential PCR amplification rates based on the lengths of the alleles, the sperm were also typed at another closely linked marker whose allele size was unrelated to the allele size at the DM locus. Using statistical models specifically designed to study single-sperm segregation data, we find no evidence of meiotic segregation distortion. The upper limit of the two-sided 95% confidence interval for the estimate of the common segregation probability for the three donors is at or below .515 for all models considered, and no statistically significant difference from .5 is detected in any of the models. This suggests that any greater amount of segregation distortion at the myotonic dystrophy locus must result from events following sperm ejaculation. The mathematical models developed make it possible to study segregation distortion with high resolution by using sperm-typing data from any locus.
Indexed as
Identifiers
8808606PMC1914809W1531485638What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.