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Flashcards covering key concepts from the lecture on genetics, inheritance patterns, and related disorders.
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What is the definition of disease?
A disorder of structure or function in an organism that produces specific signs or symptoms and has a clearly defined reason behind it.
What are infectious diseases?
Diseases caused by pathogenic microorganisms that can be spread from one person to another.
What does familial mean in genetics?
Transmitted in the gametes through generations.
What is a chromosomal anomaly?
A wrong number of chromosomes.
Define genetic disease or defect.
The correct number of chromosomes, but the gene is defective and does not make the correct protein.
What is a syndrome?
A number of symptoms that suggest a particular disease.
What does congenital mean?
Present at birth; occurs during fetal development and is not genetically determined.
What is the ABO blood system?
A system of blood classification based on the presence of A and B antigens on red blood cells.
Describe polygenic traits.
Traits controlled by two or more genes at different locations on different chromosomes.
What is a karyotype?
An organized profile of a person's chromosomes when they are fully condensed and easy to see.
What does it mean to be a carrier?
A person who has one recessive allele for a trait and one dominant allele, and can pass the allele on to offspring.
Why are X-linked conditions more common in males?
Males only have one X chromosome, meaning any recessive mutation on that chromosome will be expressed.
What are autosomal chromosomes?
Chromosomes that are not sex chromosomes, which appear the same in both males and females.
Define hemizygous.
A condition in which only one copy of a gene or DNA sequence is present in diploid cells.
What is the significance of Turner's Syndrome?
A genetic condition where a female has only one X chromosome, leading to various developmental issues.
What is Sickle-Cell Disease?
A genetic disorder affecting hemoglobin in red blood cells, causing them to become sickle-shaped.
Explain the concept of Heterozygote Advantage.
The idea that being a heterozygote may provide protection against another disease, as seen in carriers of sickle cell disease.
What is Huntington's Disease?
A genetic disorder caused by an abnormal dominant allele, affecting brain cells and leading to severe neurological symptoms.
What are wild type alleles?
The allele that encodes the most common phenotype in a natural population.
What is the relationship between genes and the environment?
Many characteristics are determined by interactions between genes and environmental factors.