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Flashcards covering key terminology and concepts from Chapter 8 on chromosomes and human genetics.
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Karyotype
A photograph of a cell’s chromosomes with homologous chromosomes paired.
Gene therapy
A technique for correcting abnormal genes responsible for disease development.
Autosomes
Homologous chromosomes that are exactly alike in length, shape, and genes they carry.
X-linked
Genes located on the X chromosome, often affecting male and female phenotypes differently.
Genetic carriers
Individuals who carry a genetic disorder allele but do not have the disease.
Homozygous
Having two identical alleles at a locus on homologous chromosomes.
Heterozygous
Having two different alleles at a locus on homologous chromosomes.
Chromosomal abnormality
Any change in the chromosome number or structure compared to the species' typical set.
Sickle cell disease
A recessive genetic disorder that affects red blood cell shape and function.
Punnett square
A diagram used to calculate the probability of inheriting specific traits.
Recessive genetic disorder
A disorder that is expressed in individuals who are homozygous for a recessive allele.
CRISPR
A gene-editing tool that allows scientists to cut and modify DNA sequences.
Pedigree
A chart that shows the genetic relationships among family members over generations.
XSCID (Severe Combined Immunodeficiency)
An X-linked disorder leaving individuals without an effective immune system.
Allele
An alternative form of a gene at a given locus on a chromosome.
Genotype
The genetic makeup of an individual, determining specific traits.
Phenotype
The observable physical or biochemical characteristics of an individual.
Dominant genetic disorder
An inherited disease caused by a dominant allele, affecting individuals with AA or Aa genotypes.
Mutation
A change in the DNA sequence that may lead to genetic disorders.
Diploid cell
A cell containing two complete sets of chromosomes, one from each parent.