Term
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Definition
| total genetic information in human cells |
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Term
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Definition
| sequenced nuclear human DNA |
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Term
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Definition
how genes interact with each other
how gene expression is regulated |
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Term
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Definition
| used to produce strains of mice, homozygous or heterozygous for cystic fibrosis |
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Term
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Definition
one extra chromosome (3 in one set)
Trisomy 21 (Down syndrome)
Klinefelter syndrome (XXY) |
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Term
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Definition
missing one chromosome (1 in a set)
Turner syndrome (X0) |
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Term
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Definition
| (abnormal # of chromosomes |
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Term
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Definition
| Sister chromatids or homologous chromosomes fail to move apart properly during meiosis |
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Term
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Definition
| Part of one chromosome becomes attached to another chromosome |
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Term
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Definition
| when two nonhomologous chromosomes exchange segments |
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Term
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Definition
Chromosome breaks, fails to rejoin
deletion ranges from a few base pairs to an entire chromosome arm |
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Term
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Definition
| part of chromosome 5 is deleted |
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Term
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Definition
Occur at specific locations on both chromatids of a chromosome
Might not show up on the karyotype, or can be an uncondensed region – look like a gap or break in the chromosome |
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Term
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Definition
occurs near tip of X chromosome
nucleotide triplet CGG repeated many times
common cause of inherited mental retardation |
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Term
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Definition
Autosomal recessive traits
Inborn error of metabolism |
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Term
| Autosomal recessive traits |
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Definition
most human genetic diseases
simple inheritance pattern |
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Term
| Inborn error of metabolism |
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Definition
metabolic disorder
mutation of gene that codes for an enzyme needed for a biochemical pathway |
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Term
| Autosomal Recessive Disorders |
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Definition
Phenylketonuria (PKU)
Sickle cell anemia
Cystic fibrosis
Tay–Sachs disease |
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Term
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Definition
| toxic phenylketones damage nervous system |
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Term
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Definition
| produces abnormal hemoglobin |
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Term
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Definition
abnormal secretions in respiratory system
Cystic fibrosis transmembrane regulator (CFTR gene) on chromosome 7
Cells do not release chloride ions properly, causing a salt imbalance and mucous build up. |
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Term
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Definition
abnormal lipid metabolism in the brain
Hexosaminidase A (HEXA gene) on chromosome 15
Harmful amounts of ganglioside lipids accumulate in the plasma membrane of nerve |
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Term
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Definition
autosomal dominant inheritance
mental and physical deterioration usually beginning in adulthood |
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Term
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Definition
X-linked recessive disorder
defect in blood clotting |
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