Question

You are expected to prepare a human pedigree detailing the inheritance of a single
genetic disease or disorder.
The pedigree will be created from the following information:
● There are five generations.
● In generation 1, there are two families.
o family one, the male is affected; this family should be listed on the
left.
o family 2 the female is affected.
● In generation 2 there are 12 individuals. Information on this generation:
o family 1 had 7 children, family 2 had four.
o family 1 first three children were girls, the remainder boys
o family 2 had a girl, two boys, and another girl.
o the eldest female of family 1 was married.
▪ She went on to have one daughter, and then one male,
affected
o the youngest male of family 1 and the eldest female of family 2
were married. This youngest male was affected.
▪ They went on to have five children. One girl, two boys, and
two more girls. The eldest boy, and two youngest girls were
all affected.
▪ The eldest daughter went on to have a boy and a girl.
o the youngest daughter of family 1, and both males of family 2, were
affected.
● In generation 3 there are at least 9 members.
o The youngest girl of the merged family had two sons. The first died
at birth and it is unknown if he was affected. The second was
affected
o The second oldest daughter of the merged family had one affected
male. She was not married.
o A daughter was born, who was a descendant of family 1 only,
whose mother was unaffected
▪ Her father was affected.
▪ She also has an adopted brother
▪ She went on to have twin daughters
▪ She was not married
● In generation 4 there are 7 members.
o Four of five males were affected
● In generation 5 there are 2 members.
● Generation one is dead.
● Non-married partners are not included in the pedigree.
● Unless specified assume all individuals have married parents.
● Unless specified, assume all spouses are unaffected
You will provide all genotypes for the second generation and ensure all known affected
individuals are marked.

After depicting the disease on the pedigree, you should include determine its dominant
or recessive inheritance pattern, and its autosomal or sex-linked position in the human
genome. Then, you will research a condition that matches this pattern and describe it in
full. Also, you should include a brief description of the manifestations and clinical
outcomes of the disease. The written portion of the assignment should be completed in
Microsoft Word.

Answer 1

ip The human pedigree detailing the inheritance of a single genetic disease.The pedigree would be created based on the following information
● There are five generations.

● In generation 1, there are two families.The male of first family and female of second family is affected.

The first family have 7 children, 2 males and one d aughter is affected.In second family both 2 males are affected.Affected male of first family and unaffected female of second female is merged together and form 5 children.In these 5 children, 2 females nad 1 male is affected.This is 3 rd generation.

In these cases, males are majorily affected, so that this trait is X linked recessive.X-linked recessive inheritance is a genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected, because he carries only one X chromosome.X-linked recessive disorders are also caused by mutations in genes on the X chromosome.A male with a mutation in a gene on the X chromosome is typically affected with the condition. Because females have two copies of the X chromosome and males have only one X chromosome, X-linked recessive diseases are more common among males than females.X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males and in females who are homozygous for the gene mutation.

Genotypes of second generation is also included in diagram2.

diagram1.

diagram2.