1. UNIT 9 – THE HUMAN GENOME Test Tuesday 2-14-12 (chapter 14)

2. I. HUMAN GENETICS (pp. 341-343) A. Human Somatic Cells ________ cells are ______ or __. Each cell contains ___ chromosomes, or ___ pairs of chromosomes. – Of the pairs, ___ are ____________, contain the same genes in the same order, and are called ____________. body diploid2n 46 23 22 homologous autosomes

3. A. Human Somatic Cells The 23rd pair of chromosomes are the ____ chromosomes. – Female =___ – Male= ___. sex XX XY

4. B. Human Gametes Gametes are _______, or __, and contain ___ chromosomes. Female gametes are _____ cells made in the ___________ in the process of __________. Male gametes are ______cells made in the _________ in the process of __________. haploid n 23 egg sperm meiosis ovaries testes meiosis

5. B. Human Gametes Egg cell can only contain an __ chromosome Sperm cell produced has a ___% chance of containing a ___ and a ___% chance of containing an __. – The _____ determines the sex of the offspring. X 50 Y X male

6. C. Analyzing Human Chromosome Numbers 1. Nondisjunction - Abnormal numbers of chromosomes in ______ result in genetic disorders called ___________. ____________, which means ______________. gametes number disorders nondisjunction “not coming apart”

7. C. Analyzing Human Chromosome Numbers A chromosome pair fails to separate correctly in ________ so the gametes produced have an abnormal _____________________. Number disorders are not inherited; therefore, they cannot be predicted with ________________. anaphase number of chromosomes Punnett squares

8. C. Analyzing Human Chromosome Numbers 2. Karyotypes – A karyotype is a photograph of ________________. Cells are stopped during _________ and are stained, photographed, and the photograph is enlarged. chromosome pairs mitosis

9. C. Analyzing Human Chromosome Numbers The chromosomes are cut out and arranged in ____________ pairs in size order, with the ____ chromosomes making up the 23rd pair. Used to detect _________ disorders and to determine the ________ of an unborn child. homologous sex number gender

10. C. Analyzing Human Chromosome Numbers They do not detect abnormal _______; therefore, a normal karyotype does not guarantee a ______ child! genes normal

11. II. HUMAN GENETIC DISORDERS – NUMBER DISORDERS (pp. 352, 353) A. Autosomal Number Disorders Most are _____. The only autosomal number disorder that allows survival into adulthood is ___________________. lethal Down syndrome

12. Is there a problem with this karotype

13. A.Autosomal Number Disorders Down syndrome Down syndrome known as __________ because there are ___ chromosomes at the ____ position, instead of ___. Individuals have characteristic facial features; growth, behavior, and mental development are all affected trisomy 21 3 21st2

14. Autosomal Number Disorders Down syndrome There is also a higher risk of _________ heart defects. The incidence of babies with Down syndrome is much higher in ______ mothers. congenital olol older

15. Is there a problem with this karyotype?

16. B. Sex Chromosome Number Disorders 1. Turner Syndrome Called ______ because individuals lack __________________. _______, typically ______ in stature, underdeveloped sexually, ______, with a normal life expectancy. 45 XO 2 nd sex chromosome female short sterile

17. Does this individual have a number disorder?

18. B. Sex Chromosome Number Disorders 2. Klinefelter Syndrome Called ________. Symptoms do not appear until ________ at which time affected _________ show poor sexual development and infertility. Treated with __________. Normal life expectancy. 47 XXY puberty males testosterone

19. III. ANALYSIS OF HUMAN INHERITANCE A. Punnett Squares & Multiple Alleles (pp. 345-346) 1. multiple alleles; that is, ___________ alleles. – An example of this is ABO blood groups. There are ____ alleles for this gene. Two of the alleles, _______ are co-dominant, meaning ______________ if present. The third allele, ____, is recessive, meaning it will only show if the genotype is ___. more than 2 3 A and B they always show i (o) ii

20. . Punnett Squares & Multiple Alleles (pp. 345-346) Each individual inherits ___ alleles for this gene, one from _____ and one from ____. 2 mom dad

21. Punnett Squares & Multiple Alleles (pp. 345-346) The possibilities for blood group genotypes and phenotypes are: PhenotypesGenotypes Type A blood_____________ Type B blood_____________ Type AB blood_____________ Type O blood_____________ ii I I or I i AAA BBB I AB

22. Complete ABO Blood Type Punnetts in Notes packet

23. B. Pedigrees A pedigree is a diagram that follows the inheritance of a single _____ through several ____________ of a family. – Males are represented by ________ – Females, by _______. Individuals with the trait are represented with ________ figures. trait generations squares circles shaded

24. B. Pedigrees Individuals shown with unshaded figures _________________. Vertical lines connect _______ and _______. Horizontal lines connect _________ or _________. Children are placed in __________,from _________. do not show the trait parentschildren spouses siblings birth order left to right

25. Complete pedigrees in note packet

26. IV. INHERITED HUMAN GENETIC DISORDERS A. Gene Mutations ______________________________. Causes Inherited human genetic disorders a change in the DNA sequence of the gene

27. IV. INHERITED HUMAN GENETIC DISORDERS B. Types of Inherited Genetic Disorders 1. Autosomal Genetic Disorders – Gene mutation is on any chromosome other than ________________ 2. Sex-Linked Disorders – Mutated gene is on the ____ chromosome. X sex chromosomes

28. VI. GENETIC DISORDERS - AUTOSOMAL DISORDERS (pp. 345-348) Most genes are carried on the ___________, ______ chromosomes other than the sex chromosomes. Most genetic disorders are ___________ disorders. These disorders affect males and females ________ and are due to _____ mutations. autosomes 44 autosomal equallygene

29. Autosomal disorders can be divided into three groups based on the pattern of inheritance. 1. Autosomal Recessive 2. Autosomal Co-Dominant 3. Autosomal Dominant

30. A. Autosomal Recessive Disorders 1. Albinism – Characterized by failure to produce pigment, __________. Affected individuals lack coloration in ______, _____, and _____. Very susceptible to ___________. Symptoms appear __________; _________ life expectancy melanin eyesskin hairUV light at birth Normal

31. A. Autosomal Recessive Disorders 2. Cystic Fibrosis – Characterized by excess __________________in _______, _________system. Symptoms appear just after birth and include frequent respiratory infections, poor nutrition. With treatment, patients can survive to young adulthood. Cystic fibrosis is the most common _______ genetic disorder in the ________ among Caucasians. mucus production lungsdigestive fatal United States

32. B. Autosomal Co-Dominant Disorders 1. Sickle cell anemia is an autosomal co- dominant disorder that affects __________ production. Hemoglobin is the protein that binds ________ to red blood cells. hemoglobin oxygen

33. Sickle cell Anemia Individuals with the normal genotype, AA, do not have the sickle cell allele and produce only normal Hemoglobin.

34. Sickle cell Anemia Individuals that are SS produce abnormal hemoglobin that causes the red blood cells to “sickle” when oxygen availability is decreased; – for example, in high altitudes or during periods of stress. Sickled RBCs are more fragile, easily destroyed – results in lack of ________ due to decreased _____ production in cells, blockage of blood vessels, and severe pain. Shortened life expectancy. Most common inherited disease in individuals of ______ ancestry. energyATP African

35. Sickle cell Anemia Heterozygotes (AS) produce both normal and abnormal hemoglobin and are said to have ________________. They do not show symptoms of the disorder. In certain areas, individuals with sickle cell trait have a benefit over individuals that lack the sickle cell allele because they are resistant to _______. Malaria is a serious, sometimes fatal disease spread by __________ that affects millions of people each year in _______. This increased malarial resistance has resulted in a very high incidence of AS individuals. If two heterozygotes marry and have children, they have a ___% chance of having a child with sickle cell anemia. sickle cell trait malaria mosquitoes Africa 25

36. C. Autosomal Dominant Disorders 1. Huntington’s Disease – Fatal genetic disorder in which symptoms do not show until ______________. Characterized by deterioration of _____________. 2. Achondroplasia - ___________ 30s to 40s nervous system Dwarfism

37. V. GENETIC DISORDERS - SEX- LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) “Sex-linked” if it is located on a sex chromosome (______). In humans, sex-linked genes are almost always located on the larger ___ chromosome. – The __ chromosome is much smaller and carries only a few genes related to ________________________. X or Y X Y male sexual development

38. A. Sex-Linked Inheritance (pp.350, 351) Females have __ X chromosomes; males have ____. Females will only show recessive traits located on the X chromosome if they are ________________________. Males will always show a recessive trait located on the X chromosome because he only has _____ X chromosome, – so all _______ on the X chromosome will show. This results in _________ having a much higher incidence of sex-linked disorders. 2 one homozygous recessive one genes males

39. A.Sex-Linked Inheritance 1. Genotypes Genotypes for sex-linked traits are written using the X and Y chromosomes to show path of inheritance. – For example, male-pattern baldness is a sex-linked recessive trait. If H = normal head of hair and h = baldness, bald male = _____; bald female = _____. – Females can be _______ for sex-linked recessive disorders. A carrier has the defective allele, but ______________. The genotype of a female carrier is ______. – Males _______ be carriers for sex-linked traits because their 2nd sex chromosome is the _______! carriers it does not show cannot naked Y X Y h X h h hH

40. 2. Sex-Linked Punnett Squares In sex-linked traits, probabilities for male and female offspring must be calculated separately because traits are ________________. If a man with a full head of hair marries a woman who is heterozygous, what is the probability they would have a son who would go bald? A daughter? inherited differently

41. B. Sex-Linked Disorders All of these disorders are sex-linked ___________________. 1. Color Blindness – Inability to differentiate and distinguish ___________________. recessive colors

42. Results For Ishihara Test(above) Normal Color VisionRed-Green Color Blind LeftRight LeftRight Top2529Top25Spots Middle4556MiddleSpots56 Bottom68 Spots

43. B. Sex-Linked Disorders 2. Hemophilia – Missing an enzyme required for normal ____________ - results in _____________________. Treated with blood transfusions, injections of missing factor. blood clotting uncontrolled bleeding

44. B. Sex-Linked Disorders 3. Duchenne’s Muscular Dystrophy – Symptoms develop at ___________. Muscles _____________________ _, leading to eventual death. No available __________ or ______. Death usually occurs before adulthood. 3-6 years weaken, break down treatment cure