Publication
Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene
Related concepts (39)
Neutral mutation
Neutral mutations are changes in DNA sequence that are neither beneficial nor detrimental to the ability of an organism to survive and reproduce. In population genetics, mutations in which natural selection does not affect the spread of the mutation in a species are termed neutral mutations. Neutral mutations that are inheritable and not linked to any genes under selection will be lost or will replace all other alleles of the gene. That loss or fixation of the gene proceeds based on random sampling known as genetic drift.
DNA
Deoxyribonucleic acid (diːˈɒksᵻˌraɪboʊnjuːˌkliːᵻk,_-ˌkleɪ-; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of all known organisms and many viruses. DNA and ribonucleic acid (RNA) are nucleic acids. Alongside proteins, lipids and complex carbohydrates (polysaccharides), nucleic acids are one of the four major types of macromolecules that are essential for all known forms of life.
Direct image with compact support
In mathematics, the direct image with compact (or proper) support is an for sheaves that extends the compactly supported global sections functor to the relative setting. It is one of Grothendieck's six operations. Let f: X → Y be a continuous mapping of locally compact Hausdorff topological spaces, and let Sh(–) denote the of sheaves of abelian groups on a topological space. The direct image with compact (or proper) support is the functor f!: Sh(X) → Sh(Y) that sends a sheaf F on X to the sheaf f!(F) given by the formula f!(F)(U) := {s ∈ F(f −1(U)) | f|supp(s): supp(s) → U is proper} for every open subset U of Y.
Principle of indifference
The principle of indifference (also called principle of insufficient reason) is a rule for assigning epistemic probabilities. The principle of indifference states that in the absence of any relevant evidence, agents should distribute their credence (or 'degrees of belief') equally among all the possible outcomes under consideration. In Bayesian probability, this is the simplest non-informative prior.
Child prostitution
Child prostitution is prostitution involving a child, and it is a form of commercial sexual exploitation of children. The term normally refers to prostitution of a minor, or person under the legal age of consent. In most jurisdictions, child prostitution is illegal as part of general prohibition on prostitution. Child prostitution usually manifests in the form of sex trafficking, in which a child is kidnapped or tricked into becoming involved in the sex trade, or survival sex, in which the child engages in sexual activities to procure basic essentials such as food and shelter.
Child care
Child care, otherwise known as day care, is the care and supervision of a child or multiple children at a time, whose ages range from two weeks of age to 18 years. Although most parents spend a significant amount of time caring for their child(ren), child care typically refers to the care provided by caregivers that are not the child's parents. Child care is a broad topic that covers a wide spectrum of professionals, institutions, contexts, activities, and social and cultural conventions.
Pregnancy rate
Pregnancy rate is the success rate for getting pregnant. It is the percentage of all attempts that leads to pregnancy, with attempts generally referring to menstrual cycles where insemination or any artificial equivalent is used, which may be simple artificial insemination (AI) or AI with additional in vitro fertilization (IVF). There is no universally accepted definition of the term. Thus in IVF pregnancy rates may be based on initiated treatment cycles, cycles that underwent oocyte retrieval, or cycles where an embryo transfer was performed.
Gamete
A gamete (ˈɡæmiːt; , ultimately ) is a haploid cell that fuses with another haploid cell during fertilization in organisms that reproduce sexually. Gametes are an organism's reproductive cells, also referred to as sex cells. In species that produce two morphologically distinct types of gametes, and in which each individual produces only one type, a female is any individual that produces the larger type of gamete—called an ovum— and a male produces the smaller type—called a sperm.
Fanconi anemia
Fanconi anaemia (FA) is a rare, AR, genetic disease resulting in impaired response to DNA damage in the FA/BRCA pathway. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), MDS, and liver tumors. 90% develop aplastic anemia (the inability to produce blood cells) by age 40.