Hereditary carrier

A hereditary carrier (or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic if they inherit the recessive allele from both parents. The chance of two carriers having a child with the disease is 25%. This phenomenon is a direct result of the recessive nature of many genes.

Punnett square depicting a cross between two genetic carriers. The chance of two genetic carriers having a child with two copies of the recessive gene, thus being homozygous recessive, is 25%.

X-linked genes

Queen Victoria, and her daughters Princesses Alice and Beatrix, were carriers of the X-linked hemophilia gene (an abnormal allele of a gene, necessary to produce one of the blood clotting factors). Both had children who continued to pass on the gene to succeeding generations of the royal houses of Spain and Russia, into which they married. Since males only have one X chromosome, males who carried the altered gene had hemophilia. Females have two X chromosomes, so one copy of an X-linked recessive gene would cause them to be an asymptomatic carrier. These females simply passed it to half of their children.

Cystic fibrosis

Up to 1 in 25 individuals of Northern European ancestry may be considered carriers of mutations (CFTR genes) that can lead to cystic fibrosis. The disease appears only when two of these carriers have children, as each pregnancy between them will have a 25% chance of producing a child with the disease. However, it is also thought that carriers of CF may be more resistant to diarrhea during typhoid fever or cholera, and are therefore not truly asymptomatic. This resistance leads to increased fitness of the carriers, known as a heterozygote advantage, and thereby increases the frequency of the altered genes in the population. Although only about 1 of every 3,000 Caucasian newborns has CF, there are more than 900 known mutations of the gene that causes CF. Current tests look for the most common mutations.

Genetic testing can be used to tell if a person carries one or more mutations of the CF gene and how many copies of each mutation. The test looks at a person’s DNA, which is taken from cells in a blood sample or from cells that are gently scraped from inside the mouth.

The mutations screened by the test vary according to a person's ethnic group or by the occurrence of CF already in the family. More than 10 million Americans, including 1 in 25 Caucasian Americans, are carriers of one mutation of the CF gene. CF is present in other races, though not as frequently as in Caucasian individuals. 1 in 46 Hispanic Americans, 1 in 65 African Americans, and 1 in 90 Asian Americans carry a mutation of the CF gene.

Sickle cell anemia

Sickle cell anemia is the most common genetic disorder among African Americans in the United States. While approximately 8% are carriers, 1 in 375 African Americans are born with the disease. Carriers are typically asymptomatic, but they may show symptoms at high altitudes or under oxygen-poor environments as in instances of extreme exercise. Carriers are also known to be resistant to malaria, suggesting there is a heterozygote advantage in certain regions of Africa. This is a probable explanation for why the disease is most prevalent among African Americans