Chapter 3Biological Foundationsof Development
Genetics• The study of how genes and traits are passed from  parents to children   – Eye color   – Hair color   – Height  ...
Genetics• Genome   – The complete set of genes   – “Book of instructions” for making a body• Genes   – Provide information...
Cell: Basic unit of allliving mater                                                     Cell Structure(Adults= over 10 tri...
Chromosomes• Tightly coiled ribbons of DNA• Genes are located on the “arms” or “legs”• Reproductive or germ cells have the...
Cell Division• Mitosis  – Cells divide by copying    the DNA  – When cell division    occurs, the DNA “unzips”    and dupl...
Cell Division• Meiosis  – Gametes, the ova and    sperm, undergo one    duplication of    chromosomes      – each cell has...
Baby’s Gender• Female Sex Cells XX – ovum – 23rd chromosome• Male Sex Cells XY – sperm - 23rd chromosome• Conception is th...
Multiple Births• Monozygotic (Identical Twins)   – 1 egg + 1 sperm   – Cell divides   – Always the same gender            ...
Multiple Births• Dizygotic (Fraternal Twins)   – 2 Eggs + different sperm   – Will look different, can be different gender...
Multiple Births• Conjoined Twins  – Ovum splits apart, separation not complete  – Babies joined at some part of their bodi...
Multiple Births• Four Factors that may contribute…  1.   History in the family  2.   Increased hormones naturally  3.   Fe...
Transmission• Dominant                    • Recessive  – A gene’s code that is       – A gene’s code that is not    expres...
Sex-Linked Transmission• X chromosome carries a    • Recessive transmission  great deal of               of genetic diseas...
3 | 15
Polygenic Transmission• The combined effect of multiple genes to produce an  outcome   – e.g. height, skin color, intellig...
Chromosomal Abnormalities• Down Syndrome• Sex Chromosome Abnormalities  –   Turner Syndrome  –   Trisomy-X Syndrome  –   K...
Down Syndrome         • Trisomy 21         • Characteristics            – Specific facial appearance            – Heart an...
Turner Syndrome• Cause   – Missing X chromosome   – Missing part of the X chromosome• Characteristics   –   No ovaries/inf...
Trisomy-X Syndrome• Females with extra X chromosome (XXX)• Characteristics   –   Appearance normal   –   Lower intelligenc...
Klinefelter’s Syndrome• Males born with an extra X chromosome (XXY)• Characteristics   –   Sterile/immature testes   –   L...
XYY (Supermale) Syndrome• One or more extra Y chromosomes• Attributed to father• Characteristics   – Appear normal   – Sev...
Prenatal Genetic DiagnosesThere are some genetic tests that can help determine ifthere is an issue with the developing fet...
Ultrasound       • Sound wave echoes are         used to form a live video         image of a fetus       • Can be used fo...
Chorionic Villus Sampling (CVS)• Conducted at 9-12  weeks gestation• Catheter is inserted• Fetal cells are removed  and te...
Alpha Fetoprotein (AFP) Detection• Conducted at 16-18 weeks gestation• Mother’s blood is assayed for AFP levels   – high l...
Amniocentesis• Conducted at 15-19  weeks gestation• Needle is inserted into  abdomen• Fetal skin cells are  removed and as...
Genetic Counseling• Birth defects   – Occur in 1/33 births   – Are the leading cause of infant death• Genetic counselors  ...
Genetic Counseling• Recommended for  –   Parents of children with genetic disorders  –   Parents with a known genetic diso...
Conception and Infertility•   Ovulation    –   For pregnancy to occur,        a human egg, or ovum,        and a sperm cel...
Phases of Ovulation• Menstrual phase   – Menstruation occurs because the lining of the uterus     degenerates and is expel...
Phases of Ovulation                      3 | 32
Spermatogenesis    • Process of sperm development    • Spermatozoa      – Mature sperm cells      – Contain either an X or...
Sperm• Produced at a rate of 100 per second• 200-500 million per ejaculation                                         3 | 34
Fertilization       • Ova must be fertilized in         24-48 hours after         release       • Sperm          – Million...
Infertility• 8.5% of couples have fertility issues• Defined as   – No conception after 12 months of unprotected sex   – Be...
Intrauterine Insemination (IUI)• Sperm directly injected into the uterus when the  woman is ovulating• 8,000 children a ye...
In Vitro Fertilization• Ova   – Removed from woman’s body   – Fertilized with sperm in a petri     dish• Zygotes are trans...
Embryo Transfer• Used when both partners are infertile• Donors provide egg and sperm• Fertilized eggs are transplanted int...
Surrogate Mothers        • Woman is artificially          inseminated with sperm        • Carries fertilized egg          ...
Infertility• 14% of births use artificial reproductive technologies• Rates of multiples has increased• Time consuming, exp...
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Chapter 3 pp

  1. 1. Chapter 3Biological Foundationsof Development
  2. 2. Genetics• The study of how genes and traits are passed from parents to children – Eye color – Hair color – Height – Body build – Blood types – Intelligence – Gender 3|2
  3. 3. Genetics• Genome – The complete set of genes – “Book of instructions” for making a body• Genes – Provide information about how proteins, the building blocks of the body, are to be constructed 3|3
  4. 4. Cell: Basic unit of allliving mater Cell Structure(Adults= over 10 trillion cells) Cytoplasm: Substance of a cell outside of the nucleus Nucleus: Central point of cell, contains genetic coding for maintaining life systems and issuing commands for growth and reproduction Chromosomes: 46 in each Nucleus (23 pairs) Genes: bands on chromosomes (thousands of genes) DNA on genes (billions of DNA) 3|4
  5. 5. Chromosomes• Tightly coiled ribbons of DNA• Genes are located on the “arms” or “legs”• Reproductive or germ cells have the same amount – 46 chromosomes • 23 are from mother • 23 are from father 3|5
  6. 6. Cell Division• Mitosis – Cells divide by copying the DNA – When cell division occurs, the DNA “unzips” and duplicates itself – Each of the resulting cells contain 23 pairs of chromosomes – 46 chromosomes total 3|6
  7. 7. Cell Division• Meiosis – Gametes, the ova and sperm, undergo one duplication of chromosomes – each cell has a full set of genetic material – Each cell then undergoes another division; creating ½ sets of chromosomes: – Half of each parent’s genetic information – 23 chromosomes total 3|7
  8. 8. Baby’s Gender• Female Sex Cells XX – ovum – 23rd chromosome• Male Sex Cells XY – sperm - 23rd chromosome• Conception is the union of ovum and sperm (gametes)• Gender determined by the father 3|8
  9. 9. Multiple Births• Monozygotic (Identical Twins) – 1 egg + 1 sperm – Cell divides – Always the same gender 3|9
  10. 10. Multiple Births• Dizygotic (Fraternal Twins) – 2 Eggs + different sperm – Will look different, can be different gender 3 | 10
  11. 11. Multiple Births• Conjoined Twins – Ovum splits apart, separation not complete – Babies joined at some part of their bodies 3 | 11
  12. 12. Multiple Births• Four Factors that may contribute… 1. History in the family 2. Increased hormones naturally 3. Fertility drugs 4. Age 32 - 36 3 | 12
  13. 13. Transmission• Dominant • Recessive – A gene’s code that is – A gene’s code that is not expressed when only expressed in the one copy of the gene is presence of a dominant present gene 3 | 13
  14. 14. Sex-Linked Transmission• X chromosome carries a • Recessive transmission great deal of of genetic diseases on information the sex chromosomes is more common• Y chromosome carries very little information • Females tend to be carriers, while males tend to be those• remember… affected – females: XX – males: XY 3 | 14
  15. 15. 3 | 15
  16. 16. Polygenic Transmission• The combined effect of multiple genes to produce an outcome – e.g. height, skin color, intelligence 3 | 16
  17. 17. Chromosomal Abnormalities• Down Syndrome• Sex Chromosome Abnormalities – Turner Syndrome – Trisomy-X Syndrome – Klinefelter’s Syndrome – XYY Syndrome 3 | 17
  18. 18. Down Syndrome • Trisomy 21 • Characteristics – Specific facial appearance – Heart and eye defects – Visual or hearing impairments – Low muscle tone – Mental retardation • Higher risk for mothers over 35 years old 3 | 18
  19. 19. Turner Syndrome• Cause – Missing X chromosome – Missing part of the X chromosome• Characteristics – No ovaries/infertile – Short – Broad chests – Webbed neck – Normal verbal skills – Poor spatial skills – Heart, kidney and thyroid problems 3 | 19
  20. 20. Trisomy-X Syndrome• Females with extra X chromosome (XXX)• Characteristics – Appearance normal – Lower intelligence – Quiet, passive – May have delayed speech – May have delayed motor skills 3 | 20
  21. 21. Klinefelter’s Syndrome• Males born with an extra X chromosome (XXY)• Characteristics – Sterile/immature testes – Long limbs – Abnormal pubertal development – May have • Mental retardation • Language deficits • Attention problems 3 | 21
  22. 22. XYY (Supermale) Syndrome• One or more extra Y chromosomes• Attributed to father• Characteristics – Appear normal – Severe acne during adolescence – May exhibit • Lower intelligence • High impulsivity 3 | 22
  23. 23. Prenatal Genetic DiagnosesThere are some genetic tests that can help determine ifthere is an issue with the developing fetus:•Ultrasound•Chorionic Villus Sampling•Alpha Fetoprotein Screen•Amniocentesis•Genetic Counseling 3 | 23
  24. 24. Ultrasound • Sound wave echoes are used to form a live video image of a fetus • Can be used for diagnosis of birth defects • Very safe 3 | 24
  25. 25. Chorionic Villus Sampling (CVS)• Conducted at 9-12 weeks gestation• Catheter is inserted• Fetal cells are removed and tested for various genetic disorders 3 | 25
  26. 26. Alpha Fetoprotein (AFP) Detection• Conducted at 16-18 weeks gestation• Mother’s blood is assayed for AFP levels – high levels indicate possible neural tube defects – low levels indicate possible chromosomal abnormalities 3 | 26
  27. 27. Amniocentesis• Conducted at 15-19 weeks gestation• Needle is inserted into abdomen• Fetal skin cells are removed and assayed for genetic abnormalities• Low risk 3 | 27
  28. 28. Genetic Counseling• Birth defects – Occur in 1/33 births – Are the leading cause of infant death• Genetic counselors – Help determine risk – Provide counseling for families with an infant born with genetic problems 3 | 28
  29. 29. Genetic Counseling• Recommended for – Parents of children with genetic disorders – Parents with a known genetic disorder – Women who have repeatedly miscarried – Older pregnant women – Couples of certain ancestry/ethnicities – Couples who are related to each other 3 | 29
  30. 30. Conception and Infertility• Ovulation – For pregnancy to occur, a human egg, or ovum, and a sperm cell meet and share their genetic material – Each month a woman releases at least one ovum from her ovaries during ovulation 3 | 30
  31. 31. Phases of Ovulation• Menstrual phase – Menstruation occurs because the lining of the uterus degenerates and is expelled in a bloody discharge• Follicular phase – The lining of the uterus grows back and thickens, influenced by the female hormone estrogen. Mostly likely time pregnancy occurs• Luteal phase – Different hormones are secreted (i.e., progesterone) that prepare the uterus for the arrival of a fertilized ovum 3 | 31
  32. 32. Phases of Ovulation 3 | 32
  33. 33. Spermatogenesis • Process of sperm development • Spermatozoa – Mature sperm cells – Contain either an X or Y chromosome – Form in 72 days 3 | 33
  34. 34. Sperm• Produced at a rate of 100 per second• 200-500 million per ejaculation 3 | 34
  35. 35. Fertilization • Ova must be fertilized in 24-48 hours after release • Sperm – Millions are released – Viable for 3 days – About 100-1,000 reach the egg – Fertilization occurs when a single sperm penetrates the outer layer of the ovum 3 | 35
  36. 36. Infertility• 8.5% of couples have fertility issues• Defined as – No conception after 12 months of unprotected sex – Being unable to carry a fetus to term• Causes – 50% maternal origin – 20% paternal origin – 30% of unclear origin 3 | 36
  37. 37. Intrauterine Insemination (IUI)• Sperm directly injected into the uterus when the woman is ovulating• 8,000 children a year in the U.S. are conceived through IUI 3 | 37
  38. 38. In Vitro Fertilization• Ova – Removed from woman’s body – Fertilized with sperm in a petri dish• Zygotes are transferred to the uterus• Common method• Can result in multiple births if multiple eggs are transferred 3 | 38
  39. 39. Embryo Transfer• Used when both partners are infertile• Donors provide egg and sperm• Fertilized eggs are transplanted into woman• Rare• Low success rate 3 | 39
  40. 40. Surrogate Mothers • Woman is artificially inseminated with sperm • Carries fertilized egg through pregnancy and birth 3 | 40
  41. 41. Infertility• 14% of births use artificial reproductive technologies• Rates of multiples has increased• Time consuming, expensive, emotionally draining• Most resulting children are healthy• Ethical questions 3 | 41
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