Proband

Proband is a term used in genetics and medical genetics to denote the individual in a family who is the first to be identified as carrying a particular genetic mutation or genetic trait. The proband's family members are then studied to determine the pattern of inheritance of the trait or mutation. The term is derived from the Latin word 'probandus', which means 'the one being tested'.

Definition

The proband, also known as the index case or patient zero, is the first individual in a family to be identified as having a particular genetic trait or mutation. This individual is often the one who brings the genetic issue to the attention of medical professionals. The proband's family members are then studied to determine the pattern of inheritance of the trait or mutation.

Use in Genetics

In genetics, the proband is used as a starting point for the study of a genetic trait or mutation within a family. The proband's genotype and phenotype are studied in detail, and the genetic information of other family members is compared to that of the proband. This allows researchers to determine the pattern of inheritance of the trait or mutation, and to identify other individuals in the family who may be at risk of inheriting the trait or mutation.

Use in Medical Genetics

In medical genetics, the proband is often the individual who brings a genetic issue to the attention of medical professionals. This individual may have been diagnosed with a genetic disorder, or may have a family history of a particular disorder. The proband's genetic information is used as a starting point for the study of the disorder within the family, and to identify other family members who may be at risk of developing the disorder.

See Also

• Genetics
• Medical genetics
• Genetic mutation
• Genetic trait
• Genotype
• Phenotype

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