L22 - Sex Linked Genetics

Flashcards for sex-linked genetics, covering sex chromosomes, inheritance patterns (X-linked recessive, X-linked dominant, Y-linked), and related disorders like color blindness, hemophilia, and G6PD deficiency.

Sex-linked genes

Genes located on sex chromosomes (X or Y).

Somatic cells

Having 46 chromosomes, arranged in two sets of 23.

Sex chromosome

A chromosome involved with sex determination.

SRY gene

A gene on the short arm of the Y chromosome that triggers male development.

X-Linked Recessive Disorder

Inheritance pattern involving genes on the X chromosome where the disorder appears when two copies of the recessive allele are present (in females) or one copy is present (in males).

Carrier

Individuals with one normal and one abnormal allele for an X-linked recessive disorder; typically asymptomatic or show mild symptoms.

Red-Green Color Blindness

A vision deficiency where one cannot distinguish between red and green colors.

Hemophilia

Blood clotting disorder; common types are X-linked recessive disorders.

X-inactivation

Inactivation of one X chromosome in females to balance gene dosage with males.

G6PD (Glucose-6-Phosphate Dehydrogenase)

An enzyme that helps mitigate oxidative stress, especially in red blood cells; its deficiency can cause premature breakdown of red blood cells (hemolysis).

Hemolysis

The premature breakdown of red blood cells.

X-Linked Dominant Disorder

Inheritance pattern where the dominant allele on the X chromosome causes the disorder.

Hemizygous

Having only one copy of a gene (e.g., males for X-linked genes).

OTC (Ornithine Transcarbamylase)

Enzyme important in the urea cycle in the liver; deficiency can lead to a buildup of ammonia.

Y-Linked Disorder

Inheritance pattern where the disorder is caused by a gene on the Y chromosome; affects only males.