Chapter 4b - Variations in Genome Structure (Changes in Chromosome Structure) Flashcards
chromosomal aberrations
- alterations in number of genes
- alterations in location of genes
alterations in number of genes
- deletions
- duplications
alterations in location of genes
- inversions
- translocations
- loss of chromosomal segment
- could be homozygous or heterozygous
deletions
genetic effects of deletions
- lethal in homozygous and hemizygous condition
- reduced viability
- modified phenotypic ratio
- pseudodominance
situation in which the inheritance of a recessive trait mimics a dominant pattern
Pseudodominance
due to a deletion in the short arm of chromosome #5
Cri du chat syndrome
chromosome 7 loses an end piece
Williams syndrome
symptoms of people with Williams syndrome
- turned up nose
- wide mouth, small chin
- poor academic skills
- developed verbal and musical skills
due to repeated portion in a chromosome due to unequal crossing oer or errors in replication
duplication
genetic effects of duplications
gene redundancy
- occur when parts of chromosomes become detached, turn thruogh 180 degrees and reinserted in such a way that the genes are in reversed order
- arise from chromosome entanglements and breakages during meiotic prophase; also from recombination between transposable elements
- cause linear rearrangement of genes in a chromosome
inversions
two types of inversion
- pericentric inversion
- paracentric inversion
inversion that is situated in a chromosome arm to one side off the centromere
paracentric inversion
color pattern due to a large inversion on Equus caballus chromosome 3
tobiano color pattern