Taller

en clase, Tema 3 Genética, Subtema 3.4

preguntas tipo prueba 1 y Prueba 2 sección B
Biología IBDP NM
Profesor. Nicolás Guevara Prieto
/57
Estudiante:_________________________ Entrega: __/__/___. Puntos:

1. ¿Cuál de las siguientes es la causa de la 4. What is the cause of sickle-cell anemia?

anemia de células falciformes?
A. A change to the base sequence of
A. El triptófano es reemplazado por a hemoglobin gene
leucina.
B. Mosquitoes acting as the vector
B. La leucina es reemplazada por for malaria
valina.
C. Iron deficiency due to the malaria
C. El ácido glutámico se reemplaza parasite
por valina.
D. Production of more white blood
D. La lisina es reemplazada por cells than red blood cells by bone
ácido glutámico. marrow

2. En algunas personas, la hemoglobina 5. The pedigree chart below shows the

siempre contiene el aminoácido valina blood types of three members of a
en lugar del ácido glutámico en una family.
posición de la proteína. ¿Cuál es la
causa de esto?

A. Un error en la transcripción del

gen de hemoglobina

B. Un error en la traducción del

ARNm

C. Falta de ácido glutámico en la

dieta. Which could be the blood types of
individuals 1 and 2?
D. Una sustitución de base en el gen
de hemoglobina. Individual 1 Individual 2
A. A AB
3. Which of the following is an inherited
disease that is due to a base substitution B. AB B
mutation in a gene? C. O B
A. Trisomy 21 D. B A

B. Sickle cell anemia

6. A woman who is a carrier for
C. AIDS hemophilia and a man who does not
have hemophilia have a child. What is
D. Type II diabetes the probability that the child will have
hemophilia?

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 If it is a girl If it is a boy chart that shows three generations from
one family.
A. 0% 50%
B. 0% 0%
C. 50% 50%
D. 50% 0%

7. A parent organism of unknown [Source: “Autosomal dominant pedigree chart.

genotype is mated in a test cross. Half
of the offspring have the same
phenotype as the parent. What can be
concluded from this result?
A. The parent of unknown genotype
is heterozygous.
B. The parent of unknown genotype
is homozygous dominant.
C. The parent of unknown genotype
is homozygous recessive.
In Autosomal Dominance the chance of
receiving and expressing a particular gene is
50% regardless of the sex of parent or child.”
Jerome Walker. 22 July 2006.]
If the ACHOO syndrome is inherited as
an autosomal dominant condition,
what is the probability that a
heterozygous father and an unaffected
mother produce an unaffected child?
A. 0%
B. 25%

D. The parent of known genotype is C. 50%

heterozygous.
D. 100%
8. Rhesus factor is an antigen present on
the surface of red blood cells of Rhesus 11. What type of inheritance is shown in
positive individuals. this pedigree chart?
Rhesus positive (Rh+ ) is dominant to
Rhesus negative (Rh– ). A mother with
Rhesus negative blood gives birth to a
baby with Rhesus positive blood and
there are concerns that subsequent
pregnancies will trigger an immune
response.

What are the genotypes of the mother

and her first baby?

Genotype of Genotype of
mother first baby
A. X-linked dominant
A. Rh– Rh– Rh– Rh–
B. Rh– Rh– Rh+ Rh– B. Y-linked dominant

C. Rh– Rh– Rh+ Rh+ C. X-linked recessive

D. Rh+ Rh– Rh+ Rh+ D. Y-linked recessive

10. The ACHOO syndrome is an inherited
condition that leads to sneezing in
response to bright light and is
hypothesized to be inherited in an
autosomal (not sex-linked) dominant
fashion. The following is a pedigree
12. Which of the following genotypes is
possible in the offspring of a
homozygous male with blood group A
and a female with blood group B?

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 A. IAIA 14. Red-green colour blindness is a sex-
linked condition. Which of the
B. IAi following always shows normal vision?

C. ii A. A homozygous male

B. A homozygous female
D. IBi
C. A heterozygous male
13. What evidence is given in the pedigree
chart below to establish that the
D. A heterozygous female
condition is caused by a dominant
allele?
15. The blood groups of a mother and four
children are indicated on the pedigree
chart below.

A. Two unaffected parents have

unaffected children.

B. Two affected parents have

affected children.
What are the possible blood groups of
C. An affected parent and an the father?
unaffected parent have affected
children. A. Group A only

D. Two affected parents have an B. Group A or B only

unaffected child.
C. Group AB only

D. Group A, B or AB only

16. Boys can inherit the recessive allele 17. If a man has blood group O and a
(c) that causes red-green colour blindness woman has blood group AB, what is
from their mother, not from their father. the probability that their child will be
The allele for normal red and green vision blood group O?
is C. Which of the following genotypes are
possible in men? A. 0%

A. c only B. 25%

B. C or c only C. 50%

C. CC or cc only D. 100%

D. CC, Cc or cc only

18. Hasta dos marcas adicionales están disponibles por la construcción de sus respuestas.
(2)

(a) Los embriones que se producen por fertilización in vitro se pueden seleccionar para tratar
enfermedades genéticas. Describa el proceso de fertilización in vitro, e incluya un
ejemplo de una situación de cuando se utiliza.
(9)

(b) Explique, usando un ejemplo, cómo las mujeres, pero no los hombres, pueden ser

3
 portadores de algunos alelos recesivos.
(4)

(c) Explique las causas y consecuencias de la anemia falciforme.

(5)
(Total 20 puntos)

19. Hasta dos marcas adicionales están disponibles por la construcción de sus respuestas.
(2)

(a) Describa las causas del síndrome de Down.

(5)

(b) Describa cómo se determina genéticamente el color de la piel humana.

(5)

(c) Explicar las causas de la anemia falciforme.

(8)
(Total 20 puntos)

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 Respuestas Prueba 1

1. C
2. D
3. B
4. A
5. D
11. B
6. A 12. D
7. A 13. D
8. B 14. C
9. C 15. B
10. C 16. A

Respuestas Prueba 2 sección B

1. (a) a) drugs used to down-regulate the menstrual cycle;

b) FSH injected to stimulate many follicles to develop;
c) HCG injected to cause the follicles to mature;
d) eggs are harvested/extracted (from the follicles/ovaries);
e) semen sample produced/collected;
f) semen is processed to concentrate it / healthy sperm selected (swim-up test given);
g) ICSI/IntraCytoplasmic Sperm Injection where sperm is directly injected into egg when
h) low numbers of motility is a factor;
i) semen mixed with eggs in a dish/outside the body to allow fertilization;
j) incubated / kept at 37°C / allows embryos to develop (sufficiently for implantation);
k) dish examined to choose healthiest embryo;
l) embryos placed in uterus/oviduct (using a catheter/long plastic tube);
m) one/two/three/up to four (in some countries) embryos implanted;
n) pregnancy test/scan used to see if procedure has been successful;
o) (used in cases of) blocked oviduct / low sperm count / need for genetic screening
/infertility / cannot become pregnant / need for donor embryo; 9 max

Accept other reasonable situations. Full marks may be awarded only if an example is included in
the answer.
(b) a) females are carriers when they have dominant and recessive alleles together;
b) recessive allele in carrier does not affect phenotype as dominant allele also present;
c) gene is located on the X chromosome / gene is not located on Y chromosome;
d) females are XX so can have dominant and recessive alleles/two alleles of gene;
e) males are XY so only have dominant or recessive allele/one allele of gene;
f) hemophilia/red-green colour blindness/other example of a sex-linked characteristic;
4 max
(c) a) (point) mutation of gene for hemoglobin;
b) CTC to CAC / GAG to GTG / substitution of T/thymine with A/adenine;
c) mRNA copy of gene is GUG instead of GAG;
d) valine instead of glutamic acid;
e) (in homozygotes) red blood cells become sickle-shaped;
f) (in homozygotes) less oxygen carried;
g) (in homozygotes) red blood cells do not survive long / burst / block blood
vessels/capillaries / circulatory problems may cause pain/organ failure/example of
symptom;
h) heterozygotes have malaria resistance; 5 max
(Más un máximo de [2] por calidad)

5
 [20]
2. (a) a) Down syndrome is caused by non-disjunction;
b) occurs during meiosis;
c) chromosome pairs fail to separate in meiosis I / chromatids in meiosis II /anaphase II;
d) some gametes have an extra chromosome;
e) can lead to zygotes/individuals with an extra chromosome / individual has 47
chromosomes;
f) in Down syndrome this would be trisomy 21/extra chromosome 21;
g) increased probability with increased age of mother/ages of parents;
5 max
(b) a) skin colour is an example of polygenic inheritance;
b) many/more than two genes contribute to a person’s skin colour;
c) due to the amount of melanin in the skin;
d) combination of alleles determines the phenotype;
e) allows for range of skin colours / continuous variation of skin colour;
f) phenotypes do not follow simple Mendelian ratios of dominance and recessiveness;
g) the environment also affects gene expression of skin colour /
h) sunlight/UV light stimulate melanin production;
i) the more recessive alleles there are, the lighter the skin colour; (vice versa) 5 max

(c) a) caused by gene mutation;

b) (sickle-cell anemia) due to a base substitution (mutation);
c) changes the code on the DNA;
d) which leads to a change in transcription / change in mRNA;
DNA changes from CTC to CAC/GAG  (accept DNA changesfrom
to GTG / mRNA changes from GAG CTT to CAT/GAA to GTA /
to GUG; 
mRNA changes from GAA to GUA)
e) which (in turn) leads to a change in translation / change in polypeptide chain/protein;
f) (the tRNA) adds the wrong amino acid to the polypeptide chain;
g) glutamic acid replaced by valine;
h) produces abnormal hemoglobin;
i) causing abnormal red blood cell/erythrocyte shape / sickle shape;
j) which lowers the ability to transport oxygen;
k) sickle-cell allele is codominant;
l) homozygote/HbS HbS have sickle cell anemia/is lethal / heterozygote/ HbS HbA has the
m) sickle trait/is carrier (and is more resistant to malaria);
8 max
(Más un máximo de [2] por calidad)
[20]