X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed (1) in males (who are necessarily hemizygous for the gene mutation because they have only one X chromosome) and (2) in females who are homozygous for the gene mutation (i.e., they have a copy of the gene mutation on each of their two X chromosomes).
X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X chromosome inactivation can lead to varying degrees of clinical expression in carrier females since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes is 499 and the total including vaguely defined traits is 983
Some scholars have suggested discontinuing the terms dominant and recessive when referring to X-linked inheritance due to the multiple mechanisms that can result in the expression of X-linked traits in females, which include cell autonomous expression, skewed X-inactivation, clonal expansion, and somatic mosaicism.
Read more about X-linked Recessive Inheritance: Sex Differences in Phenotype/Genotypes and Frequency
Famous quotes containing the word inheritance:
“I call it our collective inheritance of isolation. We inherit isolation in the bones of our lives. It is passed on to us as sure as the shape of our noses and the length of our legs. When we are young, we are taught to keep to ourselves for reasons we may not yet understand. As we grow up we become the “men who never cry” and the “women who never complain.” We become another generation of people expected not to bother others with our problems.”
—Paula C. Lowe (20th century)