Hereditary carrier

Punnett square: If the other parent does not have the recessive genetic disposition, it does not appear in the phenotype of the children, but on the average 50% of them become carriers.

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 usually 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.

Carriers in autosomal inheritances

Punnett square: If both parents are carriers, on the average 25 % of the offspring have the recessive trait in phenotype and 50 % are carriers.

Autosomal dominant-recessive inheritance is made possible by the fact that the individuals of most species (including all higher animals and plants) have two alleles of most hereditary predispositions because the chromosomes in the cell nucleus are usually present in pairs (diploid). Carriers can be female or male as the autosoms are homologous indepentantly from the sex.

In carriers the expression of a certain characteristic is recessive (from Latin recedere "withdraw"). The individual has both a genetic predisposition for the dominant trait and a genetic predisposition for the recessive trait, and the dominant expression prevails in the phenotype. In an individual which is heterozygous regarding a certain allele, it is not externally recognizable that it also has the recessive allele. But if the carrier has offspring, the recessive trait appeares in the phenotye, in case the descendant receives the recessive allele from both parents and therefore does not have the dominant allele that would cover the recessive trait. According to Mendelian Law of Segregation of genes an average of 25 % of the offspring become homozygous and express the recessive trait. Carriers can either pass on normal recessive hereditary traits or a recessive hereditary disease.

Carriers in gonosomal inheritances

The mother is a carrier of the recessive hereditary disposition for Color blindness. The Y chromosome of the father cannot oppose this. The healthy allele on the X chromosome of the father can compensate for this in a daughter. She can see normally, but she becomes a conductor. The same pattern of inheritance applies to Haemophilia.

Gonosomeal recessive genes are also passed on by carriers. The term is used in human genetics in cases of hereditary traits in which the observed trait lies on the female sex chromosome the X chromosome. The carriers are always women. Men cannot be carriers because they only have one X chromosome. The Y chromosome is not a really homologous chromosome. For this reason, the genetic make-up of the observed trait is not twofold. If a man has a certain recessive genetic disposition on his X chromosome, this is called hemizygot and it gets phenotypically expressed. Also a recessive genetic disposition on his Y chromosome - also hemizygot - can come to expression, because there is no homologous chromosome with an allele, which could overlay it. If there is no genetic information on the Y chromosome for a certain trait, the effect of the Y is neutral and the allele on his X chromosome, which would be recessive in a heterozygous woman, can now alone come to expression.

Women have two homologous sex chromosomes (XX). Therefore women can be carriers of X-linked genes. Examples of traits inherited via the X chromosome are color blindness and the most common hereditary form of Haemophilia. Men are affected much more often than women.

Queen Victoria, and her daughters Princesses Alice and Beatrix, were carriers of the 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 B. 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.

Gonosomal dominant inheritances are also known. There are no carriers, since carriers of a dominant hereditary disposition also phenotypically express the trait in each case.

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. 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