medical genetics Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the caus ...

and other medical fields, a proband, proposito (male proband), or proposita (female proband)Bennett, RL. The Language of the Pedigree. In: ''The Practical Guide to the Genetic Family History''. Wiley-Liss. is a particular subject (human or other animal) being studied or reported on. On pedigrees, the proband is noted with a square (male) or circle (female) shaded accordingly. Denoting the proband is important, so the relationship to other individuals can be seen and patterns established. In most cases, the proband is the first affected family member who seeks medical attention for a

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

. Among the

ancestor An ancestor, also known as a forefather, fore-elder or a forebear, is a parent or (recursively) the parent of an antecedent (i.e., a grandparent, great-grandparent, great-great-grandparent and so forth). ''Ancestor'' is "any person from whom ...

s of the proband, other subjects may manifest the disease, but the proband typically refers to the member seeking medical attention or being studied, even if affected ancestors are known. Often, affected ancestors are unknown due to the lack of information regarding those individuals or about the disease at the time they lived. Other ancestors might be undiagnosed due to the incomplete

penetrance Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is t ...

or variable expressivity. The diagnosis of a proband raises the index of suspicion for the proband's relatives and some of them may be diagnosed with the same disease. Conventionally, when drawing a pedigree chart, instead of the first diagnosed person, the proband may be chosen from among the affected

s (parents, grandparents) from the first generation where the disease is found. The term "proband" is also used in

genealogy Genealogy () is the study of families, family history, and the tracing of their lineages. Genealogists use oral interviews, historical records, genetic analysis, and other records to obtain information about a family and to demonstrate kins ...

, where it denotes the root node of an ''

ahnentafel An ''ahnentafel'' (German for "ancestor table"; ) or ''ahnenreihe'' ("ancestor series"; ) is a genealogical numbering system for listing a person's direct ancestors in a fixed sequence of ascent. The subject (or proband) of the ahnentafel is li ...

'', also referred to as the

progenitor In genealogy, the progenitor (rarer: primogenitor; german: Stammvater or ''Ahnherr'') is the – sometimes legendary – founder of a family, line of descent, clan or tribe, noble house, or ethnic group.. Ebenda''Ahnherr:''"Stammvater eines G ...

References

Classical genetics {{Genetics-stub