Genetics and Genetic Diseases

A trait expressed in only one sex due to anatomical differences, like breast cancer being more common in women.

A trait expressed more often in one sex than the other, like male pattern baldness being more common in men.

The region on the Y chromosome responsible for triggering male development. It's like the switch that turns on male characteristics.

The process of determining the sex of an individual. It starts early in pregnancy, around the sixth week.

DNA from reproductive cells (eggs or sperm) that gets incorporated into the DNA of every cell in the offspring's body.

The act of locating genes on chromosomes. It's like finding a specific book in a huge library.

A new approach to medicine that uses a person's unique genetic and environmental information to diagnose and treat diseases, like tailoring treatments based on your DNA.

A group of mutations that are often found in families, helpful for understanding genetic disorders.

The number of new cases of a disease reported within a specific time period, usually a year.

The proportion of the population affected by a disease at a specific point in time.

The prevalence rate is typically higher than the incidence rate because it reflects the total number of individuals with the disease, including those who were diagnosed earlier.

Genetic variations influence how our bodies process drugs, leading to differences in effectiveness and side effects.

A genetic test can help predict how a person's body will metabolize a drug.

The CYP450 enzyme family plays a crucial role in the metabolism of many medications.

Differences in the CYP450 enzyme activity can result in varying drug responses, leading to individual variations in medication effectiveness and side effects.

The prevalence of diseases varies significantly across populations due to various factors, including genetics, environment, and lifestyle.

A type of cancer that primarily affects women, with a higher risk if a first-degree relative has been diagnosed, particularly at a young age or with bilateral cancer.

A gene mutation linked to an increased risk of developing breast and ovarian cancer.

An autoimmune disorder affecting the pancreas, leading to insulin deficiency. Characterized by T cell infiltration and antibody formation, with higher risk among siblings of those with the condition.

The most common type of diabetes, characterized by insulin resistance.

A cancer with a higher risk if a first-degree relative has been diagnosed. It's the second most common cancer in men.

The second most common cause of cancer deaths in the United States.

A cancer that accounts for one-third of all cancer cases in the United States.

A genetic condition characterized by a higher risk of certain cancers, particularly breast cancer.

The percentage of identical twins who both develop a particular disease, indicating the influence of genes.

A group of genes that are linked to an increased risk for developing schizophrenia.

Drugs that block dopamine receptors in the brain, often used to treat schizophrenia.

A form of psychosis characterized by dramatic mood swings and emotional instability. It is also known as manic-depressive disorder.

The likelihood that a disease will occur in individuals who have a close relative with the disease.

A disease that is influenced by a combination of genetic and environmental factors.

The onset of a disease at a younger age, often associated with a stronger genetic influence.

Lifestyle changes, such as diet, exercise, and stress reduction, that can help reduce the risk of complex disorders.

A disease caused by multiple genes and environmental factors. It is characterized by a continuous distribution of traits, meaning individuals can have different degrees of severity.

The probability of a relative developing a multifactorial disease. It's influenced by factors like the number of affected family members, severity of the disease, and the sex of the affected individuals.

A study comparing the concordance rates of a trait in identical (monozygotic) twins to those in non-identical (dizygotic) twins. Helps estimate the relative contributions of genetics and environment.

Identical twins share the same genetic makeup because they develop from a single fertilized egg that splits into two embryos.

Fraternal twins develop from two separate eggs fertilized by different sperm. They share half their genes, similar to any other siblings.

A condition where the pyloric sphincter, a muscle at the end of the stomach, narrows, making it difficult for food to pass into the intestines.

Twin studies are useful for investigating the relative contributions of genetics and environment to complex traits. Monozygotic twins share all their genes, while dizygotic twins share only half. By comparing concordance rates (the probability of both twins having a trait) between these two groups, we can estimate the heritability of a trait, and therefore the extent to which genes are responsible.

In multifactorial diseases, the recurrence risk typically decreases rapidly in more distant relatives. This contrasts with single gene diseases where recurrence risk decreases by 50% for every degree of relationship. This rapid decrease in recurrence risk in multifactorial diseases suggests that there is a significant environmental component influencing the expression of the disease.

A phenomenon where genes are expressed differently depending on whether they are inherited from the mother or father.

A condition caused by a deletion on chromosome 15, inherited from the father, resulting in short stature, small hands and feet, obesity, mild to moderate intellectual disability, and hypogonadism.

A condition caused by the same deletion on chromosome 15 as in Prader-Willi Syndrome, but inherited from the mother, leading to severe intellectual disability, seizures, and ataxia.

A rare genetic disorder caused by the inheritance of two copies of chromosome 11 from the father and no copy from the mother.

A condition characterized by growth retardation, proportionate short stature, a small triangular face, and other developmental abnormalities.

The study of how environmental factors can alter gene expression without changing the underlying DNA sequence.

The study of how environmental factors, like exposure to alcohol during pregnancy, can affect brain development and mental health.

The process by which a cell changes from one type to another, such as a stem cell changing to a neuron.