1 / 34

Changes in Genetic Marerial are known as Mutations

Changes in Genetic Marerial are known as Mutations. from the Latin word ( mutatus ) meaning “to change”. Mutagen. anything that can cause a mutation is called a mutagen UV light (sun) some viruses X-rays industrial chemicals pesticides/weed killers food additives.

michaellbrown
Download Presentation

Changes in Genetic Marerial are known as Mutations

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Changes in Genetic Marerial are known as Mutations • from the Latin word (mutatus) • meaning “to change”

  2. Mutagen • anything that can cause a mutation is called • a mutagen • UV light (sun) • some viruses • X-rays • industrial chemicals • pesticides/weed killers • food additives

  3. Mutations in Somatic(body) Cells • only effects the individual • CANNOT be passed on to offspring

  4. Mutations in Gametes • if there is a mutation in your gametes • it may be passed on to thezygote • if any of the gametes are involved in • fertilization, every cell of the offspring • will carry the mutation

  5. Chromosomal Mutations • Involves changes in the number or structure of chromosomes • Nondisjunction • trisomy • monosomy • Polyploidy • Chromosomal Rearrangements • deletions • insertions • chromosomal inversions

  6. Sex chromosomes Most mammals have one pair of sex chromosomes Males Females

  7. Sex chromosomes • Females have two X chromosomes. • Males have an X & Y chromosome.

  8. Meiosis • During meiosis a female can only produce an egg with an X or an X chromosome. • During meiosis a male can produce a sperm with an X or a Y chromosome.

  9. Meiosis & Punnett Square

  10. Normal Karyotype

  11. XX X XXX X Male Female (triple X) Female (Turner’s Syndrome) Sperm XY XXY Y Y Male (Klinefelter’s Syndrome) Nonviable Sex Chromosomal Mutations How nondisjunction can result in abnormalities in the number of sex chromosomes . . . Female XX Nondisjunction Eggs

  12. Turner’s syndrome -XO • most common sex-chromosome abnormalityin females • 1 out of every 2500 female births • 60,000 females in the U. S. • firstdescribed in 1938

  13. Turner’s syndrome symptoms • Young infants & childhood: swollen hands and feet wide and webbed neck drooping eyelids dry eyes

  14. Turner’s syndrome symptoms • Older females: short height infertility - absence of a menstrual period incomplete development at puberty sparse pubic hair and small breasts broad, flat chest shaped like a shield

  15. Possible Complications • Arthritis • Cataracts • Diabetes • Thyroiditis • Heart defects • High blood pressure • Kidney problems • Middle ear infections • Obesity • Scoliosis Alien Autopsy & Turner’s syndrome

  16. Klinefelter's syndrome - XXY1 in 850 newborn males normal physical appearance until puberty first described by Harry F. Klinefelter in 1942

  17. Klinefelter's syndrome symptoms • tall height • abnormal body proportions (long legs, short trunk) • sexual problems･enlarged breasts • little pubic, armpit, and facial hair • Infertility - underdeveloped gonads

  18. Trisomy X - XXXone in every 1,000 newborn girls5 - 10 girls are born in the U. S. each dayDr. Patricia Jacobs identified the extra X in Trisomy

  19. Trisomy X symptoms • appearance similar to Klinefelter’s but female • tall stature - low weight • varying degrees of androgyny • learning disability • delayed speech & language skills • developmental delays • normal sexual development

  20. XYY syndrome (supermale)

  21. XYY syndrome (supermale) • 1 in 1,000 males • first published by Avery A. Sandberg in Buffalo, New York - 1961 • increase risk of learning disabilities • tall with severe acne • aggressive behavior • some studies show a higher % of supermales are in prisons • normal sexual development and are fertile • some medical geneticists question whether the term "syndrome" is appropriate for this condition because its phenotype is normal

  22. Cat cry syndrome deletion of chromosome 5 • 1 in 20,000 to 50,000 live births • all ethnic backgrounds • slightly more common in females • first described by Jerome Lejeune in 1963

  23. Cat cry syndrome symptoms • problems with the larynx and nervous system • infant sounds just like a meowing kitten • feeding problems because of difficulty swallowing • low birth weight and hypotonia(low muscle tone) • severe cognitive, speech, and motor delays • hyperactivity, aggression, tantrums, and repetitive movements • unusual facial features which may change over time

  24. Cat cry syndrome symptoms • The majority of patients die in early childhood • Adults with cat cry exhibit an IQ below 20 • a loss of hypertelorism(increased distance between the eyes) • and epicanthic(skin) folds • development of a thin narrow face with prominent nasal bridge.

  25. Cat cry syndrome symptoms Hypertelorism Epicanthic(skin) folds

  26. TranslocationPhiladelphia Chromosome(can lead toleukemia)

  27. Down SyndromeExtra chromosome 21

  28. Down Syndrome • In the US, 1 baby in 800 is born with Down syndrome • produces mild to severe mental retardation • characterized by an increased susceptibility to many diseases

  29. Trisomy 13

  30. Trisomy 13 Conditions Surgical techniques used for cleft lip and palate repair

  31. What is the disorder??? Klinefelter’s Syndrome

  32. What is the disorder??? Trisomy 13

  33. What is the disorder??? Down’s Syndrome

  34. What is the disorder??? Turner’s Syndrome

More Related