Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity.

Mol Genet Genomics

Medical Genomics LLC, 48 Zhelyabov Str, Tver, 170100, Russian Federation.

Published: November 2023

Uniparental disomy (UPD) is a rare chromosomal condition, which apart from its importance in medical genetics can affect an outcome of parentage DNA testing, often causing pseudo exclusions. We describe a case of trio paternity test using 24 informative STR loci with potential exclusion at 2 systems located on chromosome 21. Consequent genotyping of an additional 25 autosomal and 27 Y-specific STRs revealed one other inconsistency, also located on this chromosome. All three inconsistent markers had the same heteroallelic state between the child and the biological mother providing evidence for maternal heterodisomy of chromosome 21. The case highlights the importance of considering UPD as a cause of genetic inconsistencies, especially when the inconsistent marker systems are located on the same chromosome.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00438-023-02064-8DOI Listing

Publication Analysis

Top Keywords

located chromosome
12
uniparental disomy
8
systems located
8
chromosome
5
maternal uniparental
4
disomy chromosome
4
chromosome pseudo-exclusion
4
pseudo-exclusion paternity
4
paternity uniparental
4
disomy upd
4

Similar Publications

The integral role of in brain function: from neurogenesis to synaptic plasticity and social behavior.

Acta Neurobiol Exp (Wars)

January 2025

Laboratory of Animal Models, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.

The phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene is a critical tumor suppressor that plays an essential role in the development and functionality of the central nervous system. Located on chromosome 10 in humans and chromosome 19 in mice, PTEN encodes a protein that regulates cellular processes such as division, proliferation, growth, and survival by antagonizing the PI3K‑Akt‑mTOR signaling pathway. In neurons, PTEN dephosphorylates phosphatidylinositol‑3,4,5‑trisphosphate (PIP3) to PIP2, thereby modulating key signaling cascades involved in neurogenesis, neuronal migration, and synaptic plasticity.

View Article and Find Full Text PDF

Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.

Neurol Genet

February 2025

Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.

In the late 1800s, Nikolaus Friedreich first described "degenerative atrophy of the posterior columns of the spinal cord," noting its connection to progressive ataxia, sensory loss, and muscle weakness, now recognized as Friedreich ataxia (FRDA). Renewed interest in the disease in the 1970s and 80s by the Quebec Cooperative Group and by Anita Harding led to the development of clinical diagnostic criteria and insights into associated biochemical abnormalities, although the primary defect remained unknown. In 1988, Susan Chamberlain mapped FRDA's location on chromosome 9.

View Article and Find Full Text PDF

Background: Hexaploid oat (Avena sativa L.) is a commercially important cereal crop due to its soluble dietary fiber β-glucan, a hemicellulose known to prevent cardio-vascular diseases. To maximize health benefits associated with the consumption of oat-based food products, breeding efforts have aimed at increasing the β-glucan content in oat groats.

View Article and Find Full Text PDF

Genome-wide association analysis of flowering date in a collection of cultivated olive tree.

Hortic Res

January 2025

UMR AGAP Institut, Univ Montpellier, CIRAD, INRAE, Institut Agro, Montpellier, France.

Flowering date in perennial fruit trees is an important trait for fruit production. Depending on the winter and spring temperatures, flowering of olive may be advanced, delayed, or even suppressed. Deciphering the genetic control of flowering date is thus key to help selecting cultivars better adapted to the current climate context.

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!