PEDGREE
PEDGREE
Gregor Mendel’s experiments showed that the “factors” that we now know as “genes”, are
the factors which are responsible for the inheritance of traits from parents to offspring.
Therefore, genes are the hereditary unit of organisms which are responsible for carrying the
information from the parents to their offspring. These genes are responsible for the
characteristics of a living organism and can also be the reason for some disorders present in
them.
These conclusions are based on the evidence provided by the controlled cross experiments in
pea plants and other organisms. Since we can’t perform similar experiments on human
populations due to ethical reasons, we formed pedigree analysis to study the pattern of the
inheritance even when we have limited data.
Mendelian disorders are genetic diseases which follow a Mendelian inheritance pattern, and
their inheritance is controlled by Mendelian genetics. Therefore, by studying the family
history of an individual through pedigree analysis, we can predict whether an individual is at
risk of a genetic disorder.
Here, the rows represent the generations of a family, squares represent males, and
circles represent females. Individuals on the same row belong to the same generation.
A marriage or mating is represented as a horizontal bar between the square and the
circle. Likewise, a double bar between the symbols indicates a marriage.
The offsprings are indicated by a suspending vertical line drawn perpendicular to the
horizontal bar or marriage bar.
The homozygous individuals are represented as fully shaded symbols. Whereas
heterozygous individuals are just carriers and are represented by half-shaded
symbols.
A normal or natural genotype is denoted as wild type. Unshaded squares and circles
indicate the normal or “unaffected” individuals.
Usually, the carrier of a sex-linked recessive gene is represented by a black spot in the
middle of the symbol.
Sometimes, a particular affected individual who is being interviewed or who bought
the trait to the geneticists is indicated by a pointing arrow.