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(a)(i) A short segment of DNA which determines the characteristic of an organism by controlling
protein synthesis. (1)
(ii) It is located on the X-chromosome or Y-chromosome.
(b) Genotype of male is XY. If the disorder is X-linked, individual 3 must have one dominant allele
on his only X-chromosomes for the manifestation of the disorder. (1)
This X-chromosome with the dominant allele must have been inherited to his daughter
individual 6. (1)
Genotype of female is XX. As the dominant allele will express its phenotype, individual 6
should have manifested the disorder if it is X-linked. (1)
However, individual 6 is normal. Hence, the allele must not be located on the X-chromosome /
is located on autosome. (1)
OR
Genotype of female is XX. If the disorder is X-linked, individual 5 must have at least one X-
chromosomes with the dominant allele for the manifestation of the trait. (1)
This X-chromosome with the dominant allele must have been inherited from her father
individual 1. (1)
Genotype of male is XY. As the dominant allele will express its phenotype, individual 1 should
have manifested the trait if it is sex-linked. (1)
However, individual 1 is normal. Hence, the allele must not be located on the X-chromosome /
is located on autosome. (1)
(c) Individual 4 is normal in phenotype. She must have 2 recessive normal alleles, i.e. she must be
homozygous recessive for the manifestation of the normal phenotype. (1)
One of the recessive alleles must have been inherited from 2. (1)
2 is normal. She must have at least one dominant normal allele. (1)
Hence, 2 is heterozygous. (1)
(d) Main concept:
Genotypes of individual 3 being heterozygous and that of individual 4 being homozygous
recessive (1)
Gametes of the parents (1)
Genotypes and phenotypes for F1 generation (1)
Showing probability – ¼ being boy having disease (1)
Format of genetic diagram correctly / properly laid out. If genetic diagram not in a proper
format (parent, gamete and offspring not indicated), minus 1 mark.
Individual 3 Individual 4
Parental genotype Ff x ff
Gametes F f f
Genotype of F1 generation Ff ff
Phenotype of F1 with Marfan’s syndrome normal
Probability required = ½ x ½ = ¼.
2. (a) Both individual 5 and 6 are normal so they must have at least one normal allele. (1)
Individual 13 is affected so she must have at least one allele for the disease. (1)
Her allele of the disease must have been inherited from either 5 or 6. (1)
Hence, either 5 or 6 must be heterozygous. (1)
In heterozygous conditions, only the dominant allele will be expressed while the recessive allele
will be masked. Since the both 5 and 6 are normal, normal allele is dominant while allele for the
disease must be recessive. (1)
OR
Both individual 7 and 8 are normal so they must have at least one normal allele. (1)
Individual 17 and 18 are affected so they must have at least one allele for the disease. (1)
Their allele of the disease must have been inherited from either 7 or 8. (1)
Hence, either 7 or 8 must be heterozygous. (1)
In heterozygous conditions, only the dominant allele will be expressed while the recessive allele
will be masked. Since the both 7 and 8 are normal, normal allele is dominant while allele for the
disease must be recessive. (1)
(b) Genotype of female is XX. If the disease is X-linked, individual 2 must have 2 recessive alleles
on her X-chromosomes for the manifestation of the trait. (1)
One of the X-chromosomes with the recessive allele of individual 2 must have been inherited to
her son individual 6. (1)
Genotype of male is XY. As individual 6 only possesses one X-chromosome, he should have
manifested the disease if it is X-linked. (1)
However, individual 6 is normal. Hence, the allele must not be located on the X-chromosome /
is located on the autosome. (1)
OR
Genotype of female is XX. If the disease is X-linked, individual 17 must have 2 recessive alleles
on her X-chromosomes for the manifestation of the trait. (1)
One of the X-chromosomes with the recessive allele of individual 17 must have been inherited
from her father individual 8. (1)
Genotype of male is XY. As individual 8 only possesses one X-chromosome, he should have
manifested the disease if it is X-linked. (1)
However, individual 8 is normal. Hence, the allele must not be located on the X-chromosome /
is located on the autosome. (1)
(c) Individual 2, 3 and 13 are affected. They must have 2 recessive defective alleles, i.e. they must
be homozygous recessive for the manifestation of the disease. (1)
One of the recessive alleles of 13 must have been inherited from 5. (1)
One of the recessive alleles of 2 must have been inherited to 6 and 7. (1) (max. 2)
One of the recessive alleles of 3 must have been inherited to 8, 9 and 10. (1)
5, 6, 7, 8, 9 and 10 are normal. They must have at least one dominant normal allele. (1)
Hence, they are heterozygous. (1)
(Accept other correct alternative deductions.)
(d) Main concept:
Definition of symbols showing recessiveness of the defective allele (1)
Genotypes of individual 21 and 22 being being homozygous dominant and recessive
respectively (1)
Genotypes and phenotypes for F1 generation (1)
Showing probability – 0% having disease (1)
Format of genetic diagram correctly / properly laid out. If genetic diagram not in a proper
format (parent, gamete and offspring not indicated), minus 1 mark.
OR
Genotype of male is XY. If the defective allele is Y-linked, individual 12 must have an allele on
his Y-chromosomes for the manifestation of the disease. (1)
This Y-chromosome with the allele must have been inherited from his father individual 8. (1)
However, individual 8 is normal. Hence, the allele must not be located on the Y-chromosome /
is not Y-linked. (1)
OR
The genotype of female is XX. If the defective allele is Y-linked, all female offspring should be
unaffected as daughters have no Y-chromosome. (2)
However, there are affected female offspring individual 7 and 13. Hence, the allele must not be
located on the Y-chromosome. (1)
(b) Genotype of female is XX. If the defective allele is X-linked recessive, individual 13 must have
2 recessive alleles on her X-chromosomes for the manifestation of the disease. (1)
One of the X-chromosomes with the recessive allele of individual 13 must have been inherited
from her father individual 8. (1)
Genotype of male is XY. As individual 8 only possesses one X-chromosome, he should have
manifested the disease if it is X-linked recessive. (1)
However, individual 8 is normal. Hence, the allele must not be located on the X-chromosome /
is located on the autosome. (1)
(c) Genotype of male is XY. If the defective allele is X-linked dominant, individual 2 must have
one dominant allele on his only X-chromosomes for the manifestation of the disease. (1)
This X-chromosome with the dominant allele must have been inherited to his daughter
individual 4. (1)
Genotype of female is XX. As the dominant allele will express its phenotype, individual 4
should have manifested the disease if it is X-linked dominant. (1)
However, individual 4 is normal. Hence, the allele must not be located on the X-chromosome /
is located on the autosome. (1)
OR
Genotype of male is XY. If the defective allele is X-linked dominant, individual 5 must have
one dominant allele on his only X-chromosomes for the manifestation of the disease. (1)
This X-chromosome with the dominant allele must have been inherited from his mother
individual 1. (1)
Genotype of female is XX. As the dominant allele will express its phenotype, individual 1
should have manifested the disease if it is X-linked dominant. (1)
However, individual 1 is normal. Hence, the allele must not be located on the X-chromosome /
is located on the autosome. (1)
OR
Genotype of female is XX. If the defective allele is X-linked dominant, individual 7 must have
at least one X-chromosomes with the dominant allele for the manifestation of the trait. (1)
This X-chromosome with the dominant allele must have been inherited to her daughter
individual 14. (1)
As the dominant allele will express its phenotype, individual 14 should have manifested the
disease if it is X-linked dominant. (1)
However, individual 14 is normal. Hence, the allele must not be located on the X-chromosome /
is located on the autosome. (1)
OR
Genotype of female is XX. If the defective allele is X-linked dominant, individual 13 must have
at least one X-chromosomes with the dominant allele for the manifestation of the trait. (1)
This X-chromosome with the dominant allele must have been inherited from her father
individual 8. (1)
Genotype of male is XX. As the dominant allele will express its phenotype, individual 8should
have manifested the disease if it is X-linked dominant. (1)
However, individual 8 is normal. Hence, the allele must not be located on the X-chromosome /
is located on the autosome. (1)
6. The long-winged and short-winged fruit flies occur in a ratio of 612:204 = 3:1. (1)
According to Mendel’s Law of Segregation, both parents must be heterozygous. (1)
Long wing is the dominant trait. (1)
Hence the phenotype of both parents must be long wing. (1)