NSG 533 EXAM 2
• balanced inversion: no net loss/gain of genetic chromosomal material (nophenotypic
abnormalities)
• unbalanced inversion: loss/gain of chromosomal material (will see abnormalphenotype)
• substitution: type of chromosomal mutation in which there is an exchange ofone base for
another
• translocation: type of chromosomal mutation in which a segment or wholechromosome
becomes attached with another chromosome
• balanced translocation: no net gain/loss of genetic material (no phenotypicabnormalities)
• unbalanced translocation: gain/loss of genetic material (does show phenotyp-ic
abnormality)
• penetrance: proportion of individuals with a mutation who actually exhibit theclinical
symptoms (often autosomal dominant)
• anticipation: tendency for individuals with certain genetic disorders in succes-sive
generations to present at an earlier age and/or with more severe manifestations
severity and age of onset
• consanguinity: genetic relatedness between individuals descended from atleast one
common ancestor
• mosacisism: occurrence of two or more cell lines with different genetic orchromosomal
constitutions within a single individual
• types of mosaicism: 1. germline
2. somatic
• which type of mosaicism can be transmitted to the offspring?: germline
• genotype: individual's genetic makeup
• phenotype: the observable physical characteristics of a gene
• gene associated with Tay-Sachs: HEXA gene
• gene associated with Cystic Fibrosis: CFTR gene
• gene associated with Sickle Cell Anemia: HBB gene
• genetics: study of inherited traits and their variation (individual)
• genome: total genetic composition of an organism or species (group)
, • genomics: molecular analysis of the entire genome of a species
• gene: basic unit of heredity
• list the four types of mendelian inheritance: 1. autosomal dominant
2. autosomal recessive
3. X-linked dominant
4. X-linked recessive
• autosomal dominant: - phenotype is expressed in those who have 1 copy of agene mutation
- mothers and fathers are equally likely to transmit or inherit the disorder
- seen in multiple generations
• autosomal recessive: - requires presence of 2 copies of a gene mutation in orderto express
phenotype
- usually seen in a single generation
- mothers/fathers equally likely to transmit or inherit disorder
• X-linked dominant: - dominant disorder caused by a mutation in a gene on theX
chromosome
- heterozygous female (XAXa) and hemizygous male (XAY)
- affected males have more severe phenotype
• X-Linked Recessive: mutation on gene in X chromosome causes phenotype tobe expressed
in hemizygous males (XaY) and homozygous females (XaXa)
• types of X-linked recessive disorders: 1. duchene muscular dystrophy
2. hemophilia
3. color blindness
11. examples of X-Linked dominant disorders: 1. Fragile X syndrome
2. Rett syndrome
• examples of Autosomal Dominant disorders: -Marfan syndrome
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