Statistical evaluation of age-at-onset anticipation: a new test and evaluation of its behavior in realistic applications
Article Abstract:
Tests for age-at-onset anticipation based on affected parent-child pairs may not be meaningful. The type I error rate of the test is probably high compared to the statistical power of the test. The type I error rate is elevated because the sample of affected pairs is usually drawn from pedigrees already selected on the basis of the number of affected individuals. Furthermore, the underlying biological model indicates that the power of the test is likely to be quite low for expanding trinucleotide-repeat diseases.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
User Contributions:
Comment about this article or add new information about this topic:
Mapping of a congenital microcoria locus to 13q31-q32
Article Abstract:
A gene associated with congenital microcoria has been mapped to 13q31-q32 through linkage analysis of a large French family including 31 affected members, 27 unaffected members, and 12 spouses. The linked region was narrowed through haplotype analysis to an interval of less than 8 cM between markers D13S1239 and D13S1280. Congenital microcoria is inherited as an autosomal dominant trait and characterized by small pupils, iris transillumination defects, and pupil dilation poor or absent.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: An evaluation of whole body potassium-40 content for estimating lean and fat mass in pigeons. Body composition of the European Barn Owl during the nonbreeding period
- Abstracts: Identification of a novel mechanism of regulation of Ah (dioxin) receptor function. Enhancer control of V(D)J recombination at the TCR-beta locus: differential effects on DNA cleavage and joining
- Abstracts: The strange evolutionary history of plant mitochondrial tRNAs and their aminoacyl-tRNA synthetases
- Abstracts: Candidate-gene studies of the atherogenic lipoprotein phenotype: a sib-pair linkage analysis of DZ women twins
- Abstracts: Mixed messages: presentation of information in cystic fibrosis-screening pamphlets. Prenatal screening for cystic fibrosis carriers: an economic evaluation