Short tandem repeat studies are powerful tools for parentage analysis and for identification of missing persons, victims of murder, and victims of mass fatalities when reference samples are unavailable. The primer in the Identifiler kit failed to amplify an allele at the D19S433 locus, producing a silent ("null") allele. The causal mutation is a base change (G>A) 32 nucleotides downstream from the 3' end of the AAGG repeats. The silent alleles are problematical in parentage analysis because when transmitted, they can cause a parent-child inconsistency that is unrelated to Mendelian genetics. The inconsistency is sometimes termed an "apparent opposite homozygosity" and it produces false evidence of nonparentage. Alternative primers were designed to amplify the D19S433 locus alleles and they detect the silent allele. Frequencies of the (no longer) silent allele were determined to be 0.0114 in 176 people from Shizuoka (Honshu) and 0.0128 in 156 people from Okinawa.

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1556-4029.2008.00806.xDOI Listing

Publication Analysis

Top Keywords

silent allele
12
parentage analysis
8
d19s433 locus
8
silent
5
allele
5
d19s433 primer
4
primer binding
4
binding site
4
site mutation
4
mutation frequency
4

Similar Publications

Random X-chromosome inactivation is a hallmark of female mammalian somatic cells. This epigenetic mechanism, mediated by the long noncoding RNA Xist, occurs in the early embryo and is stably maintained throughout life, although inactivation is lost during primordial germ cell (PGC) development. Using a combination of single-cell allele-specific RNA sequencing and low-input chromatin profiling on developing mouse PGCs, we provide a detailed map of X-linked gene reactivation.

View Article and Find Full Text PDF

Four novel HLA-B noncoding variants detected by next-generation sequencing: HLA-B*07:02:107, -B*08:01:78, -B*15:01:89 and -B*52:01:58.

View Article and Find Full Text PDF

The ability to produce pulcherriminic acid is a characteristic feature of yeast species of the pulcherrima clade recently merged under the taxonomic name Metschnikowia pulcherrima. This iron chelator cyclodipeptide forms pulcherrimin, a maroon-red pigment with ferric ions. Its synthesis and secretion into the environment is under the control of closely linked genes referred to as the PUL cluster.

View Article and Find Full Text PDF

Purpose: To evaluate the relationship between the presence of reticular pseudodrusen (RPD) and the risk allele of ARMS2 rs10490924 variation in dry-AMD patients by using multimodal imaging. Also, to compare patients with and without RPD and healthy volunteers according to the distribution of the risk allele.

Methods: In this cross-sectional study, dry-AMD patients with (Group A, n = 50) and without (Group B, n = 50) RPD and healthy volunteers (Group C, n = 50) were enrolled.

View Article and Find Full Text PDF
Article Synopsis
  • - Pseudohypoparathyroidism type 1B (PHP1B) is caused by epigenetic changes affecting the GNAS gene, leading to parathyroid hormone resistance, especially in kidney cells due to inhibited Gsα protein expression from the maternal allele.
  • - Genetic defects in PHP1B patients include loss of methylation in specific regions and additional methylation issues in some, prompting researchers to identify the genetic basis for autosomal dominant PHP1B in families with complex GNAS methylation problems.
  • - Genome sequencing highlighted small GNAS variants and a microdeletion in affected families that possibly alter AS transcript expression, leading to reduced NESP transcription, thus suggesting a mechanism behind PHP1B development.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!