Friday, July 6, 2018

Sex-Linked Diseases

Intermediate Physics for Medicine and Biology: Sex-Linked Diseases In Chapter 3 of Intermediate Physics for Medicine and Biology, Russ Hobbie and I include a homework problem about color blindness.
Problem 6. Color blindness is a sex-linked defect. The defective gene is located in the X chromosome. Females carry an XX chromosome pair, while males have an XY pair. The trait is recessive, which means that the patient exhibits color blindness only if there is no normal X gene present. Let Xd be a defective gene. Then for a female, the possible gene combinations are
XX, XXd, XdXd.

For a male, they are

XY, XdY.

In a large population about 8% of the males are color-blind. What percentage of the females would you expect to be color-blind?
Textbook of Medical Physiology, by Guyton and Hall, superimposed on Intermediate Physics for Medicine and Biology.
Textbook of Medical Physiology,
by Guyton and Hall.
In the Textbook of Medical Physiology (often cited in IPMB), Guyton and Hall write
Red-green color blindness is a genetic disorder that occurs almost exclusively in males. That is, genes in the female X chromosome code for the respective cones. Yet color blindness almost never occurs in females because at least one of the two X chromosomes almost always has a normal gene for each type of cone. Because the male has only one X chromosome, a missing gene can lead to color blindness.
Because the X chromosome in the male is always inherited from the mother, never from the father, color blindness is passed from mother to son, and the mother is said to be a color blindness carrier; this is true in about 8 per cent of all women.
Color blindness is not the only sex-linked defect. Many others exist, including hemophilia; an inability to clot blood. Those who suffer from hemophilia bleed profusely from minor cuts, and bruise easily. Guyton and Hall explain
Hemophilia is a bleeding disease that occurs almost exclusively in males. In 85 per cent of cases, it is caused by an abnormality or deficiency of Factor VIII; this type of hemophilia is called hemophilia A or classic hemophilia. About 1 of every 10,000 males in the United States has classic hemophilia. In the other 15 per cent of hemophilia patients, the bleeding tendency is caused by deficiency of Factor IX [hemophilia B]. Both of these factors are transmitted genetically by way of the female chromosome. Therefore, almost never will a woman have hemophilia because at least one of her two X chromosomes will have the appropriate genes. If one of her X chromosomes is deficient, she will be a hemophilia carrier, transmitting the disease to half of her male offspring and transmitting the carrier state to half of here female offspring.
Hemophilia B was common among the royal families of Europe in the 19th and 20th centuries. Queen Victoria of England was a carrier, and passed the mutation to royal houses in Spain, Germany and Russia. It may have played a role in triggering the Russian Revolution.

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