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Sources of Variation. Differences between members of a species Result of inheritance and environment Eg : Exposure to UV light, Diet, Fitness. 1. Random Assortment of Chromosomes during meiosis Chromosomes exist in homologous pairs
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Differences between members of a species • Result of inheritance and environment • Eg: Exposure to UV light, Diet, Fitness
1. Random Assortment of Chromosomes during meiosis • Chromosomes exist in homologous pairs • Homologous: genes on one member of the pair control the same characteristics as the genes on the other member of the pair • These homologous pairs assort themselves • randomly during the first meiotic division. • The genes on a single chromosome will • generally be inherited together (gene linkage)
2. Random Fertilisation • The variation which is a consequence of the number of possible sperm/egg combinations. • 3. Crossing Over • At times the chromosomes of a homologous pair may become tangled with each other during the 1st meiotic division (called crossing over) • Chiasma(plural: chiasmata): point where two • chromatids cross over • On some occasions the chromatids break at the chiasma and reconnect to the other chromatid (called recombination) • This results in a new set of alleles on the recombinant chromosome
4. Non-Disjunction • At times , during the 1st meiotic division, homologous pairs fail to separate OR During the 2nd meiotic division the pairs of chromatids fail to separate. • Results in one daughter cell having an extra chromosome and another having one less. (often causes severe and distinctive birth defects or miscarriages) • Trisomy: Individual inherits an extra copy of a chromosomes • (three rather than two) • Monosomy: individual is missing a chromosome • (one instead of two) • Partial Trisomy/Monosomy: Part of an extra/missing • chromosome
E.g. Trisomy 21 (Down Syndrome): characteristic facial appearance, variable degrees of mental retardation, & physical abnormalities • E.g. Trisomy 13 (Patau syndrome): mental retardation, small head, extra finger on each hand, cleft lip/palate, and malformation of ears and eyes. (80% die within 1st month) • E.g. Trisomy 16: spontaneous miscarriage in • first 3 months of pregnancy • E.g.TrisomyXXY (Klinefelter’s syndrome): • small testes incapable of producing sperm, • enlarged breasts, sparse body hair, possible mental retardation
Monosomy X (Turner’s syndrome): females are short in stature, lack secondary sexual characteristics and are often infertile. • E.g. Partial Monosomy 5 (Cri du chat syndrome): Missing section of chromosome 5 – cat like cry due to problems with larynx and nervous system, difficulty swallowing / suckling, poor growth, low birth weight and unusual facial features.
Mutations • Permanent change in the DNA • Results in sudden occurrence of new and different characteristics in offspring, not evident in parents. • Accepting Human Variations • Species: group of organisms, with common characteristics, are able to interbreed producing fertile offspring under natural conditions