Biology Chapter 8: Chromosomes and Human Genetics

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Flashcards covering key terminology and concepts from Chapter 8 on chromosomes and human genetics.

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20 Terms

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Karyotype

A photograph of a cell’s chromosomes with homologous chromosomes paired.

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Gene therapy

A technique for correcting abnormal genes responsible for disease development.

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Autosomes

Homologous chromosomes that are exactly alike in length, shape, and genes they carry.

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X-linked

Genes located on the X chromosome, often affecting male and female phenotypes differently.

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Genetic carriers

Individuals who carry a genetic disorder allele but do not have the disease.

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Homozygous

Having two identical alleles at a locus on homologous chromosomes.

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Heterozygous

Having two different alleles at a locus on homologous chromosomes.

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Chromosomal abnormality

Any change in the chromosome number or structure compared to the species' typical set.

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Sickle cell disease

A recessive genetic disorder that affects red blood cell shape and function.

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Punnett square

A diagram used to calculate the probability of inheriting specific traits.

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Recessive genetic disorder

A disorder that is expressed in individuals who are homozygous for a recessive allele.

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CRISPR

A gene-editing tool that allows scientists to cut and modify DNA sequences.

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Pedigree

A chart that shows the genetic relationships among family members over generations.

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XSCID (Severe Combined Immunodeficiency)

An X-linked disorder leaving individuals without an effective immune system.

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Allele

An alternative form of a gene at a given locus on a chromosome.

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Genotype

The genetic makeup of an individual, determining specific traits.

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Phenotype

The observable physical or biochemical characteristics of an individual.

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Dominant genetic disorder

An inherited disease caused by a dominant allele, affecting individuals with AA or Aa genotypes.

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Mutation

A change in the DNA sequence that may lead to genetic disorders.

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Diploid cell

A cell containing two complete sets of chromosomes, one from each parent.