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Because the color blind 'affected' alleles are recessive, color blindness specifically follows X-linked recessive inheritance. Males have only one X chromosome (XY), and females have two (XX); Because the male only has one of each gene, if it is affected, the male will be color blind.
X-linked recessive diseases are more frequently encountered than dominant ones and predominantly affect males, with Red-green colour blindness having the highest prevalence among all. Genetic screening including carrier screening , prenatal screening and newborn screening could be done on individuals for early detection of genetic defects.
The most common X-linked recessive disorders are: [7] Red–green color blindness, also known as daltonism, [8] which affects roughly 7% to 10% of men and 0.49% to 1% of women. Its relative benignity may explain its commonness.
The incidence of X-linked recessive conditions in females is the square of that in males: for example, if 1 in 20 males in a human population are red–green color blind, then 1 in 400 females in the population are expected to be color-blind (1 / 20)*(1 / 20).
X-linked recessive conditions include the serious diseases hemophilia A, Duchenne muscular dystrophy, and Lesch–Nyhan syndrome, as well as common and less serious conditions such as male pattern baldness and red–green color blindness. X-linked recessive conditions can sometimes manifest in females due to skewed X-inactivation or monosomy X ...
Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects XY karyotypes.
Haemophilia and red-green colour blindness are recessive, X-linked, pseudodominant genetic disorders, expressed mainly in human males because human females need to be homozygous (i.e., to have inherited the recessive allele from both parents) to show these traits. [citation needed]
(A female may carry such a disease on one X chromosome but not show symptoms if the other X chromosome works sufficiently.) For this reason, such conditions are far more common in males than in females. X-linked recessive disorders include: [129] Red-green colour blindness; Haemophilia A (factor VIII) Haemophilia B (factor IX) Duchenne Muscular ...
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