Genetic mutations, including point and frameshift mutations, play a crucial role in human variation and disease. Point mutations can be silent, missense, or nonsense, affecting protein function. Frameshift mutations alter the reading frame, often leading to nonfunctional proteins. Chromosomal mutations, such as deletions and duplications, can cause disorders like Down syndrome and Turner syndrome. Understanding these mutations is vital for medical genetics.
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Genetic mutations can be classified as either somatic or germline, and can arise spontaneously or be induced by environmental factors
Double Helix Structure
DNA is composed of two complementary strands wound around each other, with repeating units called nucleotides
Nucleotide Components
Nucleotides consist of a sugar molecule, phosphate group, and nitrogenous base, which make up the genetic instructions for organisms
Genes direct the synthesis of proteins or RNAs that play critical roles in biological processes
Point mutations involve changes in individual or small numbers of nucleotides, which can result in various outcomes such as silent, missense, or nonsense mutations
Frameshift mutations, caused by insertions or deletions of nucleotides, disrupt the reading frame of a gene and can result in nonfunctional proteins
Chromosomal mutations involve changes in the structure or number of chromosomes and can have profound effects on an organism's phenotype
Genetic mutations can lead to a wide range of disorders, such as cystic fibrosis, sickle cell disease, Down syndrome, and Turner syndrome
While mutations can lead to inherited diseases, beneficial mutations can provide a survival advantage and become more common in a population over time
Detrimental mutations can result in conditions such as Marfan syndrome or Tay-Sachs disease, and studying them helps us understand the molecular mechanisms underlying various diseases
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Genetic alterations in a gene's DNA sequence are known as ______ and can result from modifications in the nucleotide arrangement.
genetic mutations
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Mutations that occur in reproductive cells and may be passed to offspring are termed ______ mutations.
germline
02
DNA Components
Nucleotides: sugar (deoxyribose), phosphate group, nitrogenous base (A, T, C, G).
