The pattern of color blindness described in Example 12.3.10 and Example 12.3.13 of the textbook arises because of the way that this condition is genetically determined.


In humans the sex of an individual is determined by inherited sex chromosomes. All individuals carry two sex chromosomes, but males carry a so-called X and a Y chromosome (and are thus called XY) whereas females carry two X chromosomes (and are thus called XX). When a male and female produce an offspring, each gives the offspring one of its sex chromosomes, chosen with equal probability. Thus a child always inherits an X chromosome from its mother since, regardless of which of her sex chromosomes is chosen, it will always be an X. But the child inherits the X chromosome from its father with probability 1/2 (in which case it will be female) or the Y chromosome from its father with probability 1/2 (in which case it will be male).


X-linked mutations are mutations that are found on the X chromosome. Often X-linked mutations that cause diseases or disabilities are recessive. This means that an individual needs to carry only one normal copy of the gene to avoid expressing the condition (because the normal copy can compensate for the mutated copy). As a result, because females are XX, they can carry the mutation without expressing the condition. On the other hand, because males are XY, they will always express the condition if they carry the mutation because there is no other copy of the X chromosome to compensate.


Color blindness is an example of an X-linked recessive condition. Thus, females can carry the mutation for color blindness without being color blind. Males, however, will always be color blind if they carry the mutation. This is why color blindness is more common in males than in females.


See this website for a list of other X-linked recessive conditions.


© James Stewart and Troy Day, 2014