The effect of pedigree structure on detection of deletions and other null alleles

European Journal of Human Genetics : EJHG
Anna M Johansson, Torbjorn Sall

Abstract

Deletions and other null alleles for genetic markers can be detected as a special case of non-Mendelian inheritance, ie when a parent and a child appear to be homozygous for different alleles. The probability to detect a deletion for a fixed overall number of investigated individuals was calculated for biallelic and multiallelic markers with varying allele frequencies. To determine the effect of increasing the number of parents and grandparents, the probability for this event was derived for a parent and one child, a trio, a trio with one grandparent and a trio with two grandparents. The results for biallelic markers show that for a fixed total number of individuals, a sample of trios with two grandparents is always more efficient than the other family types, despite a lower total number of founder chromosomes in the sample. For multiallelic markers the outcome varies. The effect of adding additional children to a nuclear family was also investigated. For nuclear families, the optimal number of children is two or three, depending on the allele frequencies. It is shown that adding children is more efficient than adding grandparents.

References

Jan 1, 1983·American Journal of Medical Genetics·S P Daiger, A Chakravarti
Jun 23, 1998·American Journal of Human Genetics·J R O'Connell, D E Weeks
Nov 21, 2000·American Journal of Human Genetics·S SilversteinD Abeliovich
Mar 30, 2001·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·J AlonsoA Pestaña
Nov 14, 2003·Human Heredity·Christopher I AmosRobert K Yu
Aug 25, 2005·Human Heredity·Anna M JohanssonTorbjorn Sall
Dec 6, 2005·Nature Genetics·Donald F ConradJonathan K Pritchard
Dec 6, 2005·Nature Genetics·David A HindsKelly A Frazer
Dec 21, 2005·Thrombosis and Haemostasis·Anna M JohanssonChrister Halldén
Feb 10, 2006·Nature Genetics·Steven A McCarrollUNKNOWN International HapMap Consortium
Jun 20, 2006·Annual Review of Genomics and Human Genetics·Andrew J SharpEvan E Eichler
Aug 8, 2006·Molecular Biology and Evolution·William Amos
Sep 28, 2006·PLoS Genetics·Aleeza C GersteinSarah P Otto
Oct 24, 2006·Nature Genetics·Donald F ConradJonathan K Pritchard
Nov 24, 2006·Nature·Richard RedonMatthew E Hurles
Nov 30, 2006·Current Opinion in Oncology·Amit Dutt, Rameen Beroukhim
Mar 17, 2007·Science·Jonathan SebatMichael Wigler
Sep 12, 2007·American Journal of Human Genetics·Jared R Kohler, David J Cutler

❮ Previous
Next ❯

Citations

Aug 28, 2012·Nature Genetics·James X SunKari Stefansson
Jul 31, 2013·PloS One·Pernilla LindahlChrister Halldén

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.