Genetic disorders: Down, Klinefelter, cystic fibrosis

1. 1Down Syndrome is caused when there is an [blank_start]extra chromosome[blank_end]. People with down syndrome have [blank_start]47[blank_end] chromosomes instead of [blank_start]46[blank_end]. They have an [blank_start]extra chromosome 21[blank_end] meaning there are [blank_start]3 copies[blank_end] instead of [blank_start]2[blank_end]. It is caused by [blank_start]abnormal cell division[blank_end] known as [blank_start]nondisjunction[blank_end] during the [blank_start]development[blank_end] of the [blank_start]sperm[blank_end] and [blank_start]egg[blank_end] [blank_start]cel[blank_end].

   1. A46
   2. Bextra chromosome
   3. C47
   4. Dextra chromosome 21
   5. E3 copies
   6. F2
   7. Gabnormal cell division
   8. Hnondisjunction
   9. Idevelopment
   10. Jsperm
   11. Kegg
   12. Lcell
2. 2A [blank_start]diagnostic test[blank_end] is available for women at risk of a child with Down Syndrome. It usually involves [blank_start]chorionic villus sampling[blank_end] or [blank_start]amniocentesis[blank_end]. It is usually taken [blank_start]after[blank_end] a [blank_start]screening test[blank_end]

   1. Adiagnostic test
   2. Bchorionic villus sampling
   3. Camniocentesis
   4. Dscreening test
   5. Eafter
3. 3[blank_start]Males[blank_end] with Klinefelter's have an [blank_start]additional X chromosome[blank_end]. They have [blank_start]2 X chromosomes[blank_end] and a [blank_start]Y chromosome[blank_end]. It is [blank_start]caused by an error in cell division[blank_end].

   1. AMales
   2. Badditional X chromosome
   3. C2 X chromosomes
   4. DY chromosome
   5. Ecaused by an error in cell division
4. 4[blank_start]Chromosome analysis[blank_end] can confirm a [blank_start]diagnosis[blank_end] of the syndrome. It is usually done by [blank_start]taking a blood sample[blank_end] to [blank_start]test the number of chromosomes[blank_end].

   1. AChromosome analysis
   2. Bdiagnosis
   3. Ctaking a blood sample
   4. Dtest the number of chromosomes
5. 5[blank_start]Cystic fibrosis[blank_end] is a [blank_start]recessive disorder[blank_end] that requires [blank_start]both parents[blank_end] to pass on the [blank_start]faulty gene[blank_end] in order for a [blank_start]child to get the disease[blank_end]. If a [blank_start]child receives[blank_end] only [blank_start]one gene[blank_end] they will be a [blank_start]carrier[blank_end].

   1. ACystic fibrosis
   2. Brecessive disorder
   3. Cboth parents
   4. Dfaulty gene
   5. Echild to get the disease
   6. Fchild receives
   7. Gone gene
   8. Hcarrier
6. 6The protein affected for cystic fibrosis is known as the [blank_start]CFTR[blank_end] and is located in [blank_start]chromosome 7[blank_end]. The protein functions as a [blank_start]channel across the membrane of a cell[blank_end] and helps to produce [blank_start]mucus[blank_end], [blank_start]sweat[blank_end], [blank_start]tears[blank_end], [blank_start]saliva[blank_end] and [blank_start]digestive enzymes[blank_end]. When the protein doesn't work it [blank_start]blocks the movement[blank_end] of [blank_start]salt through the cells[blank_end] causing a [blank_start]build up of thick mucus[blank_end] around the [blank_start]cel[blank_end]. This can especially [blank_start]damage cells[blank_end] in the [blank_start]lungs[blank_end] and [blank_start]digestive area[blank_end] as is [blank_start]clogs airways[blank_end] and [blank_start]blocks digestive enzymes[blank_end] from [blank_start]entering the intestines[blank_end] to [blank_start]break down food[blank_end]

   1. ACFTR
   2. Bchromosome 7
   3. Cchannel across the membrane of a cell
   4. Dmucus
   5. Esweat
   6. Ftears
   7. Gsaliva
   8. Hdigestive enzymes
   9. Iblocks the movement
   10. Jsalt through the cells
   11. Kbuild up of thick mucus
   12. Lcell
   13. Mdamage cells
   14. Nlungs
   15. Odigestive area
   16. Pclogs airways
   17. Qblocks digestive enzymes
   18. Rentering the intestines
   19. Sbreak down food
7. 7The genetic test for CF involves [blank_start]looking at genetic material[blank_end] from a [blank_start]blood test[blank_end] or [blank_start]sample of cells inside the mouth[blank_end]. It looks to see if a person is [blank_start]carrying the CFTR gene[blank_end]. In [blank_start]newborns[blank_end] doctors can test for [blank_start]high levels of the protein trypsinogen[blank_end].

   1. Alooking at genetic material
   2. Bblood test
   3. Csample of cells inside the mouth
   4. Dcarrying the CFTR gene
   5. Enewborns
   6. Fhigh levels of the protein trypsinogen
8. 8Tay-Sachs is inherited when a person receives [blank_start]2 copies[blank_end] of the [blank_start]defective gene[blank_end]. You can become a [blank_start]carrier[blank_end] if you receive only [blank_start]one copy[blank_end].

   1. A2 copies
   2. Bdefective gene
   3. Ccarrier
   4. Done copy
9. 9The defective gene in [blank_start]chromosome 15[blank_end] is responsible. It prevents the body from making the protein [blank_start]hexosamindase A[blank_end] which causes a [blank_start]build up of nerve cells[blank_end] and thus [blank_start]destroying brain cells[blank_end].

   1. Achromosome 15
   2. Bhexosamindase A
   3. Cbuild up of nerve cells
   4. Ddestroying brain cells
10. 10A test for tAY-sachs involves taking a [blank_start]blood test[blank_end] and [blank_start]measuring levels of hexosamindase A[blank_end] in the [blank_start]blood[blank_end]. Blood is usually drawn from a [blank_start]vein[blank_end] or [blank_start]umbilical cord[blank_end] at birth

    1. Ablood test
    2. Bmeasuring levels of hexosamindase A
    3. Cblood
    4. Dvein
    5. Eumbilical cord

11. 11Huntington's disease is caused by inheriting a [blank_start]single copy of the defective gene[blank_end]. It is a [blank_start]autosomal dominant[blank_end] disorder.

    1. Asingle copy of the defective gene
    2. Bautosomal dominant
12. 12Mutations in the [blank_start]HTT gene[blank_end] result in Huntington's disease. The gene provides [blank_start]instructions[blank_end] to make the [blank_start]protein huntingtin[blank_end] which plays a vital part in the [blank_start]function of nerve cells in the brain[blank_end]. The mutation involves the [blank_start]CAG triplet repeat[blank_end] which is made up of [blank_start]DNA blocks[blank_end] called [blank_start]cytosine, adenine and guanine[blank_end]. In people with Huntington's the triplet repeats [blank_start]36 to 120[blank_end] or more times compared to [blank_start]10 to 35[blank_end] times in a normal gene.

    1. AHTT gene
    2. Binstructions
    3. Cprotein huntingtin
    4. Dfunction of nerve cells in the brain
    5. ECAG triplet repeat
    6. FDNA blocks
    7. Gcytosine, adenine and guanine
    8. H36 to 120
    9. I10 to 35
13. 13A [blank_start]pre symptomatic genetic test[blank_end] investigates the number of [blank_start]CAG triplet repeats[blank_end] in a huntington gene. The test can give a [blank_start]diagnosis[blank_end] but can not however determine [blank_start]when symptoms will begin[blank_end]

    1. Apre symptomatic genetic test
    2. BCAG triplet repeats
    3. Cdiagnosis
    4. Dwhen symptoms will begin
14. 14Haemophilia is inherited when a person receives [blank_start]one faulty gene[blank_end] unless it is [blank_start]matched[blank_end] with a [blank_start]normal dominant gene[blank_end] on the [blank_start]matching X chromosome[blank_end]. It is a [blank_start]X-linnked recessive[blank_end] disease and is most commonly found in [blank_start]males[blank_end].

    1. Aone faulty gene
    2. Bmatched
    3. Cnormal dominant gene
    4. Dmatching X chromosome
    5. EX-linnked recessive
    6. Fmales
15. 15Haemophilia arises when a person [blank_start]lacks enough of the protein[blank_end] called [blank_start]Factor 8[blank_end]. This protein helps the [blank_start]blood to clot[blank_end].

    1. Alacks enough of the protein
    2. BFactor 8
    3. Cblood to clot
16. 16[blank_start]Factor 8 activity blood tests[blank_end] evaluate the function of the [blank_start]Factor 8 protein[blank_end] in a person and how well it helps the [blank_start]blood to clot[blank_end]. Usually it involves [blank_start]taking blood[blank_end] which will be examined and tested.

    1. AFactor 8 activity blood tests
    2. BFactor 8 protein
    3. Cblood to clot
    4. Dtaking blood

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10 Science Quiz sobre Sem título, criado por lozzalanza em 01-05-2016.

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