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Biology
DNA
24
Biology
Undergraduate 2
04/22/2014

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Term
Human genome
Definition
total genetic information in human cells
Term
Human Genome Project
Definition
sequenced nuclear human DNA
Term
Helps understand
Definition
how genes interact with each other
how gene expression is regulated
Term
Gene targeting
Definition
used to produce strains of mice, homozygous or heterozygous for cystic fibrosis
Term
Trisomy
Definition
one extra chromosome (3 in one set)
Trisomy 21 (Down syndrome)
Klinefelter syndrome (XXY)
Term
Monosomy
Definition
missing one chromosome (1 in a set)
Turner syndrome (X0)
Term
Aneuploidy
Definition
(abnormal # of chromosomes
Term
Nondisjunction
Definition
Sister chromatids or homologous chromosomes fail to move apart properly during meiosis
Term
Translocation
Definition
Part of one chromosome becomes attached to another chromosome
Term
Translocation occurs
Definition
when two nonhomologous chromosomes exchange segments
Term
Deletion
Definition
Chromosome breaks, fails to rejoin
deletion ranges from a few base pairs to an entire chromosome arm
Term
Cri du chat syndrome
Definition
part of chromosome 5 is deleted
Term
Fragile Sites
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
Term
Fragile X syndrome
Definition
occurs near tip of X chromosome
nucleotide triplet CGG repeated many times
common cause of inherited mental retardation
Term
Genetic Defects
Definition
Autosomal recessive traits
Inborn error of metabolism
Term
Autosomal recessive traits
Definition
most human genetic diseases
simple inheritance pattern
Term
Inborn error of metabolism
Definition
metabolic disorder
mutation of gene that codes for an enzyme needed for a biochemical pathway
Term
Autosomal Recessive Disorders
Definition
Phenylketonuria (PKU)
Sickle cell anemia
Cystic fibrosis
Tay–Sachs disease
Term
Phenylketonuria (PKU)
Definition
toxic phenylketones damage nervous system
Term
Sickle cell anemia
Definition
produces abnormal hemoglobin
Term
Cystic fibrosis
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.
Term
Tay–Sachs disease
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
Term
Huntington’s disease
Definition
autosomal dominant inheritance
mental and physical deterioration usually beginning in adulthood
Term
Hemophilia A
Definition
X-linked recessive disorder
defect in blood clotting
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