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Genetics 1. What chromosomal disorder is caused by a piece being lost? • Deletion 2. What chromosomal disorder is caused by an extra piece of chromosome being added? • insertion 3. What chromosomal disorder is caused by a piece breaking off & reattaching in the opposite order? • inversion 4. What chromosomal disorder is caused by part of a chromosome breaking off and attaching to another chromosome? • translocation 5. What chromosomal disorder is caused when a chromosome does not separate? • nondisjunction 6. In what phases can nondisjunction occur and what is the result for the gametes? • Anaphase I • Anaphase II 7. Make a dihybrid cross for the following: TtRr TTrr (T=tall; t=short; R=red; & r=white) • TR Tr tR tr • Tr TTRr TTrr TtRr Ttrr • Tr TTRr TTrr TtRr Ttrr • Tr TTRr TTrr TtRr Ttrr • Tr TTRr TTrr TtRr Ttrr 8. From the above dihybrid, how many tall red flowers were produced? • 8-TTRr & TtRr=Tall & Red • 8-TTrr & Ttrr= Tall & White • Equal 16 squares • TR Tr tR • Tr TTRr TTrr • Tr TTRr TTrr Tall/Red Tall/Red Tall/Red • Tr TTRr Tall/Red • Tr TTRr Tall/White Tall/White Tall/White TTrr Tall/White TTrr TtRr Tall/Red TtRr Tall/Red Tall/Red TtRr Tall/Red TtRr tr Ttrr Tall/White Ttrr Tall/White Tall/White Ttrr Tall/White Ttrr 9. What chromosomes are involved with autosomal conditions? • Pairs #1-22 (all but the sex chromosomes) 10. A hypothetical disorder's location is written as 13q31.5. Answer the following questions using this information. What chromosome is the disorder located? • 13 10. cont. Is the disorder above or below the centromere? If it said "p" instead of "q", would it be above or below the centromere? 31.5 represents what? • Below • Above • Units above orbelow the centromere 11. Answer the following questions for Down's Syndrome: List the 4 main characteristics• Mental retardation, muscle weakness, heart defects & short stature • It affects what 3 systems the most? Brain/neurological, heart/circulatory and muscle Which chromosome does it affect and what is the cause? • Chromosome 21 nondisjuntion causing trisomy 21 12.Answer the following questions for Cystic Fibrosis: What 2 systems does it affect? • Lungs & digestive Which chromosome and what type of autosomal disorder is it? • #7 autosomal recessive 13. Answer the following questions for Sickle Cell Anemia: Describe the condition• Red blood cells are crescent shaped instead of round. This shape change does not allow them to bind to oxygen properly What type of autosomal disorder and which chromosome? • Autosomal recessive chromosome #11 14. Answer the following questions for Huntington's Disease: Describe the condition• Deterioration of brain tissue in middle age (30’s & 40’s) What type of autosomal disorder• Chromosome #4 Autosomal Dominant 15. If an offspring has an autosomal dominant disorder, what does that tell you about their parent? • 1 or both parents have the disorder 16. If both parents are heterozygous with an autosomal dominant disorder (they have the disorder), what is the likeliness for their offspring to have the disorder? (D=disorder & d=no disorder) D D d DD Dd Disorder d Dd Disorder Disorder dd no disorder 75% with Disorder 17. What is the likeliness for an offspring to get an autosomal recessive disorder if both parents have the disorder? (d=disorder & D=no disorder) d d d dd dd (disorder) d dd (disorder) (disorder) dd (disorder) 100% disorder 18. If both parents are carriers for an autosomal recessive disorder (they do not demonstrate the condition), what is the likeliness of the offspring getting the condition. What about the likeliness of being a carrier? (d=disorder & D=no disorder) D D d DD Dd no disorder d Dd carrier Disorder =1/4 or 25% Carrier= ½ or 50% carrier dd disorder 19. How can an autosomal recessive condition be hidden for generations? • The dominant allele hides it 20. What chromosome number do sex-linked chromosomes occur on? • Pair #23 21. Which chromosome do most sex-linked conditions occur and why? • X • Larger & carries more genes 22. What type of chromosome does mothers give their offspring? Their fathers? • Mother gives only “X’s” to their offspring • Fathers give X’s to daughters & Y’s to sons 23. Who determines the offspring's sex? • Father 24. Answer the following about Colorblindness: DescriptionWho is most commonly affected- • Can’t distinguish certain colors • Males Type of sex-linked disorder- • X-linked recessive 25. Answer the following about Hemophilia: Description• Blood does not clot Who is most commonly affected• Males Type of sex-linked disorder• X linked recessive 26. Answer the following about Turner Syndrome: • Females short in Descriptionstature, no puberty, or menstruation Who is most commonly • Females affected & chromosome combination• X0-only 1 What type of sex-linked chromosome disorder• Nondisjunction 27. Answer the following about Klinefelter's Syndrome: • DescriptionWhat type of sex-linked disorder & chromosome • combination- Hermaphroditic male & female reproductive organs but only 1 functional NondisjunctionXXY(usually) 28. Who is more affected by X-linked recessive disorders and why? • Males because they only have 1 X-sex chromosome & girls have a 2nd X which if dominant can mask the disorder 29. If a mother has a disorder, what is the likeliness her son will have it too? • 100%-mother gives the son his only X & if she only has affected X’s-then he will have disorder 30. If a daughter has a disorder, which parent(s) contributed the chromosome? • Both 31. Describe the 3 types of genetic screening and the method used to analyze them? 1. Blood tests 2. Amniocentesis-draw fluid from sac 3. Chorionic Villi Sampling-testing tissue from between uterus & placenta 4. Karyotyping-taking tests & arranging the chromosomes into homologous pairs by size & shape 32. What is the benefit of pedigree charts? • To view heredity and characteristics 33. What type of allele can a carrier have but not show the condition? • recessive 34. What type of chromosomal disorder can males not be a recessive carrier for? • X linked