Goal 3 - Pedigrees Notes
PEDIGREES (page 309)
If more than one individual in a family is afflicted with a disease, it is a clue that the disease may be inherited. A doctor needs to look at the family history to determine whether the disease is indeed inherited and, if it is, to establish the mode of inheritance. This information can then be used to predict recurrence risk in future generations. A basic method for determining the pattern of inheritance of any trait (which may be a physical attribute like eye color or a serious disease like Marfan syndrome) is to look at its occurrence in several individuals within a family, spanning as many generations as possible. For a disease trait, a doctor has to examine existing family members to determine who is affected and who is not. The same information may be difficult to obtain about more distant relatives, and is often incomplete.
Once family history is determined, the doctor will draw up the information in the form of a special chart called a pedigree (family tree) that uses a particular set of standardized symbols. This is referred to as a pedigree. In a pedigree, males are represented by squares and females by circles . An individual who exhibits the trait in question, for example, someone who suffers from Marfan syndrome, is represented by a filled symbol. A horizontal line between two symbols represents a mating.
If more than one individual in a family is afflicted with a disease, it is a clue that the disease may be inherited. A doctor needs to look at the family history to determine whether the disease is indeed inherited and, if it is, to establish the mode of inheritance. This information can then be used to predict recurrence risk in future generations. A basic method for determining the pattern of inheritance of any trait (which may be a physical attribute like eye color or a serious disease like Marfan syndrome) is to look at its occurrence in several individuals within a family, spanning as many generations as possible. For a disease trait, a doctor has to examine existing family members to determine who is affected and who is not. The same information may be difficult to obtain about more distant relatives, and is often incomplete.
Once family history is determined, the doctor will draw up the information in the form of a special chart called a pedigree (family tree) that uses a particular set of standardized symbols. This is referred to as a pedigree. In a pedigree, males are represented by squares and females by circles . An individual who exhibits the trait in question, for example, someone who suffers from Marfan syndrome, is represented by a filled symbol. A horizontal line between two symbols represents a mating.
How to read a pedigree
The offspring
are connected to each other by a horizontal line above the symbols and
to the parents by vertical lines. Roman numerals (I, II, III, etc.)
symbolize generations with the most recent generation at the bottom.
Arabic numerals (1,2,3, etc.) symbolize birth order within each
generation. In this way, any individual within the pedigree can be identified
by the combination of two numbers (i.e., individual II3).
Dominant Pedigree
Using genetic principles, the information presented in a pedigree can be analyzed to determine whether a given physical trait is inherited or not and what the pattern of inheritance is.
A dominant trait is passed on to a son or daughter from only one parent. Characteristics of a dominant pedigree are:
1) Every affected individual has at least one affected parent;
2) Affected individuals who mate with unaffected individuals have a 50% chance of transmitting the trait to each child; and
3) Two affected individuals may have unaffected children.
- In simple terms, traits can be either dominant or recessive.
A dominant trait is passed on to a son or daughter from only one parent. Characteristics of a dominant pedigree are:
1) Every affected individual has at least one affected parent;
2) Affected individuals who mate with unaffected individuals have a 50% chance of transmitting the trait to each child; and
3) Two affected individuals may have unaffected children.
Recessive Pedigree
Recessive traits are passed on to children from both parents, although the parents may seem perfectly "normal." Characteristics of recessive pedigrees are:
1) An individual who is affected may have parents who are not affected;
2) All the children of two affected individuals are affected; and
3) In pedigrees involving rare traits, the unaffected parents of an affected individual may be related to each other.
1) An individual who is affected may have parents who are not affected;
2) All the children of two affected individuals are affected; and
3) In pedigrees involving rare traits, the unaffected parents of an affected individual may be related to each other.
Patterns of Inheritance
The reason for the two distinct patterns of inheritance has to do with the genes that predispose an individual to a given disease.
- Genes exist in different forms known as alleles, usually distinguished one from the other by the traits they specify.
- Individuals carrying identical alleles of a given gene are said to be homozygous for the gene in question.
- Similarly, when two different alleles are present in a gene pair, the individual is said to be heterozygous.
- Dominant traits are expressed in the heterozygous condition (in other words, you only need to inherit one disease-causing allele from one parent to have the disease).
- Recessive traits are only expressed in the homozygous condition (in other words, you need to inherit the same disease-causing allele from both parents to have the disease).