UNIVERSITY OF CEBU – LAPULAPU AND MANDAUE

TITLE: MECHANISMS OF PEDIGREE

GROUP MEMBERS:

Alan Roy Redulla

Charles Steven Bojos

Dominic Steven Miramon

Jenica Valmoria

Joyce Carmela Idulsa

Kenneth Villaflor

Louie John Lila

Nicole Angelo Cloma

Zairah Wedden Merez

Teacher:

Mr. Junell S. Ngujo

 PEDIGREE ANALYSIS

Pedigree analysis describes the process of interpretation of information displayed as a family

tree. The family tree or pedigree is constructed using a standardized set of symbols and will

include information about the disease status of each individual. If only a single individual is

affected within the family then the pedigree cannot in itself provide proof for a particular mode

of inheritance and cannot distinguish inherited from non-inherited conditions. When more than

one individual is affected then the pattern may provide important clues or even proof of the mode

of inheritance. There are four main patterns of inheritance that may be seen in a pedigree

(Connor, 2001)
 SYMBOLS

A series of symbols are used to represent different aspects of a pedigree. Below are the principal

symbols used when drawing a pedigree.

 Square represent males. Circles are females.

 Horizontal lines between square and circles represents husband and wife. Children are

one rung lower.

  Generation are depicted as Roman numerals. A digit stands for an individual in a

generation.

 A darkened shape is an affected individual - male or female. A hollow shape is a normal

individual.

 Identical twins are represented with slanting lines and a horizontal line between them.

 Non-identical twins are slanting lines but without horizontal line between them.

 The figure (circle or square) of a deceased individual is represented by striking it.

USAGE

Pedigree analysis is used for various purposes - criminal, legal, scientific, research, academic,

etc.

Pedigree Analysis is used to determine the mode of transmission of a genetic diseases - whether

is is dominant or recessive, or whether is X-linked or Y-linked or autosomal, or whether it is

maternal (cytoplasmic).

METHOD USED

Pedigree Analysis is a method which heavily based on rules of logic. Based on the facts depicted

by the family tree, either a definite conclusion can be drawn regarding the nature of disease, or

alternatively, if the disease is known, we can estimate the percentage chance of an offspring

acquiring the disease.

 MODES OF GENETIC INHERITANCE

There are six modes in which an offspring can inherit a trait from his/her parents.

Mode of Inheritance Examples

Polycystic kidney disease, Huntington's disease, hereditary

Autosomal Dominant
spherocytosis

Autosomal Recessive Sickle Cell anemia, cystic fibrosis, Tay-Sachs disease

X-Linked Dominant Rett Syndrome, Vitamin-D resistant rickets, Alport syndrome

X-Linked Recessive hemophilia, color blindness

Y-Linked Hypertrichosis pinnae, Azoospermia, Retinitis Pigmentosa

Maternal
All the children are affected if mother is affected
(Cytoplasmic)
Rules Governing Genetic Transmission of Diseases

There are certain rules governing the genetic transmission of diseases.

1. A normal individual cannot have (one or both) alleles of the dominant trait. This is logical,

because by definition, even if one allele of a dominant disease trait is present, the individual

would be affected.

2. A normal individual, however, can be a carrier of a recessive trait. This means that an

individual may have one allele of a recessive trait and still be phenotypically normal. The

recessive allele do not express and is masked by the dominant allele. This may show in

subsequent generations. So the distinctive feature of recessive trait is that, it skips generations.

3. If trait is X-linked, the male would be affected even by a single recessive allele. This is

because male is heterozygous regarding the sex chromosome. So a single allele on X-

chromosome (even recessive) will create the expression and male would be affected.

4. When father transmits a trait to his son, it is always an Autosomal trait.

Inheritance Patterns in Pedigree Analysis

Based on the above rules, there are a few patterns of genetic inheritance which gives clue to the

nature of the trait.

1. If there is skipping of generations, meaning that the trait is observed in generation-I and not in

generation-II, but re-appears in subsequent generations, then the trait is "Recessive".

2. If the affected individual has both parents normal, then we can conclude that the trait is

"Recessive".

3. If the normal parents have the affected "son" ('B' in figure above), then the trait is "Recessive".

We cannot conclude that its Autosomal or X-Linked. If Autosomal, he got it from both parents.

But if X-linked he got it from his mother only.

4. Trait is dominant, if each generation has a trait. Remember! For a trait to express only one

allele is sufficient.

5. However, when an affected father transmits the disease to a daughter ('E' in figure above), it

may be X-linked or autosomal; we can't say for sure. We need have to have more information to

ascertain the case.

6. When a mother is affected and "all" the children - sons as well as daughters, are affected ('F' in

figure above), then the trait is maternal (cytoplasmic) inheritance.

 PEDIGREE ANALYSIS OF QUEEN VICTORIA

Hemophilia figured prominently in the history of European royalty in the 19th and 20th

centuries. Britain's Queen Victoria, through two of her five daughters (Princess Alice and

Princess Beatrice), passed the mutation to various royal houses across the continent, including

the royal families of Spain, Germany and Russia. Victoria's son Prince Leopold, Duke of

Albany also suffered from the disease. For this reason, hemophilia was once popularly called
"the royal disease". Tests on the remains of the Romanov imperial family show that the specific

form of hemophilia passed down by Queen Victoria was probably the relatively rare Hemophilia

B.

The sex-linked X chromosome disorder manifests almost exclusively in males, even though the

genetic mutation causing the disorder is located on the X chromosome and can be inherited from

the mother by male children or from either mother or father by female children. This is because

the trait is recessive, meaning that only one correctly-functioning copy of the blood clotting

factor gene is necessary for normal clotting. Females have two X chromosomes, and hence

redundant copies of the blood clotting factor gene located on them. A female who inherits a

mutated copy on one X chromosome has also inherited a second X chromosome from the other

parent that is likely to carry a non-mutated copy of the gene, capable of directing appropriate

clotting. Such a female, with normal clotting but possessing a single mutated copy of the gene, is

called a carrier. Males only possess a single X chromosome, inherited from their mother, having

received a Y chromosome from their father instead of a second X. If their sole X chromosome

contains the hemophilia mutation they possess no second copy to provide for normal function, as

in carrier females. Each child of a carrier will have a 50% chance of inheriting their mother's

mutation, of being a hemophiliac (sons) or carrier (daughters). The daughter of a male

hemophiliac will always inherit his mutation, while a son cannot ever inherit it. A female will

only be affected with hemophilia in the rare circumstance that she inherits mutated X

chromosomes from both a hemophiliac father and a carrier mother. No case of such double

inheritance is known among Queen Victoria's descendants.

Although an individual's hemophilia can usually be traced in the ancestry, in about 30% of cases

there is no family history of the disorder, and the condition is speculated to be the result of

spontaneous mutation in an ancestor. Victoria's appears to have been a spontaneous or de novo

mutation and she is usually considered the source of the disease in modern cases of hemophilia

among her descendants. Queen Victoria's father, Prince Edward, Duke of Kent, was not a

hemophiliac, and the probability of her mother having had a lover who suffered from hemophilia

is minuscule given the low life expectancy of 19th-century hemophiliacs. Her mother, Victoria,

Duchess of Kent, was not known to have a family history of the disease, although it is possible

that she was a carrier but among her children only Victoria received the mutated copy. The rate

of spontaneous mutation is known to increase with paternal age, and Victoria's father was 51 at

her birth.

Queen Victoria's eldest daughter, Victoria, Princess Royal, apparently escaped the hemophilia

gene as it did not appear in any of her matrilineal descendants. Victoria's fifth child, Helena, may

or may not have been a carrier; two healthy sons survived to adulthood, but two other sons died

in infancy and her two daughters did not have issue. Victoria's sixth child, Louise, died without

issue. Queen Victoria's sons Edward, Alfred, and Arthur were not hemophiliacs. However, her

daughters Alice and Beatrice were confirmed carriers of the gene, and Victoria's son Leopold

was a sufferer of hemophilia, making his daughter Princess Alice, Countess of Athlone a carrier

as well.