In this section
About medical genetics
- Chromosome abnormalities
- Genetic services: when, where, how
- Identification, treatment and prevention of birth defects
- Multifactorial inheritance
- Neurofibromatosis and related disorders
- Non Traditional Inheritance
- Rasopathy disorders
- Single gene defects
- Autosomal dominant: myotonic dystrophy
- Autosomal recessive: cystic fibrosis (CF), sickle cell anemia (SC), Tay Sachs disease
- Overview of single gene defects
- X-linked dominant: incontinentia pigmenti
- X-linked recessive: red-green color blindness, Hemophilia A
- Genetics and genomics support groups
- The difference between a chromosome abnormality and a single gene defect
- Tuberous sclerosis
- Uses of genetic testing
X-linked recessive: red-green color blindness, Hemophilia A
Genes are inherited from our biological parents in specific ways. One of the basic patterns of inheritance of our genes is called X-linked inheritance.
What is X-linked inheritance?
X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Remember, females have two X chromosomes, while males have one X and one Y. Genes on the X can be recessive or dominant, and their expression in females and males is not the same because the genes on the Y chromosome do not exactly pair up with the genes on the X. X-linked recessive genes are expressed in females only if there are two copies of the gene (one on each X chromosome). However, for males, there only needs to be one copy of an X-linked recessive gene in order for the trait or disorder to be expressed. For example, a woman can carry a recessive gene on one of the X chromosomes unknowingly, and pass it on to a son, who will express the trait:
Therefore, half of the daughters have the gene and can pass it to the next generation. The other half do not have the gene and, therefore, cannot pass it on. Half of the sons do not have the gene and cannot pass it on. The other half of the sons have inherited the gene and will express the trait or disorder.
What are some of the different types of X-linked recessive conditions?
Examples of X-linked recessive conditions include red-green color blindness and hemophilia A:
Red-green color blindness
Red-green color blindness simply means that a person cannot distinguish shades of red and green (usually blue-green). Their visual acuity (ability to see) is normal. There are no serious complications; however, affected individuals may not be considered for certain occupations involving transportation or the Armed Forces where color recognition is required. Males are affected 16 times more often than females, because the gene is located on the X chromosome.
Hemophilia A is a disorder where the blood cannot clot properly due to a deficiency of a clotting factor called Factor VIII. This results in abnormally heavy bleeding that will not stop, even from a small cut. People with hemophilia A bruise easily and can have internal bleeding into their joints and muscles. Hemophilia A is seen in one in 10,000 live male births. Treatment is available by infusion of Factor VIII (blood transfusion). Female carriers of the gene may show some mild signs of Factor VIII deficiency such as bruising easily or taking longer than usual to stop bleeding when cut. However, not all female carriers present these symptoms. One third of all cases are thought to be new mutations in the family (not inherited from the mother).
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