Pedigree
A pedigree is a diagrammatic representation showing the nature of genetic inheritance of
particular trait or traits for two or more generations of biologically related individuals. In
another words, it is the representation of relationships of family members using symbols
and lines of descent. It helps in visualizing relationships of individuals in a family,
particularly in large extended families. It is often used to determine the mode of inheritance
of various genetic diseases. To understand the modes of inheritance, tracing of family
history is done through drawing family tree using standard symbols. In pedigree, male and
female are represented by different symbols and relationships are shown with different
patterns of lines. Moreover, affected individuals or carrier of a genetic trait are represented
by different symbols. The symbols, patterns of lines and other characteristics used in
pedigree are depicted in figure 1.
Methods of Pedigree analysis and its Importance
Analysis of pedigree helps in understanding the nature of inheritance of a particular trait.
The inheritance pattern could be autosomal (recessive and dominant), X-linked (recessive
and dominant) or Y-linked. Some of the inheritance patterns are discussed in the following
sections
A. Autosomal Recessive Inheritance
The autosomal recessive inheritance is characterised by presence of homozygous
recessive alleles in autosomal chromosome. Individuals carrying the homozygous
autosomal recessive allele showed the affected phenotype and the unaffected phenotype
are represented by the corresponding autosomal dominant allele. Such affected
phenotype appears in the progeny of unaffected parents and both male and female
progeny are affected equally. To conceive a recessive homozygote individual, both the
parents must have had the affected allele. The formation of an affected individual usually
depends on the chance of union of heterozygote carriers. This chance of becoming
affected increases when the mating occurs between the relatives. Mating between
relatives produces higher risk of affected homozygous recessive phenotype than do mating
between nonrelatives. Therefore, first cousin or close relative marriages are responsible for
a large portion of recessive diseases in human populations. Albinism is an example of
autosomal recessive disorder which is caused by a defect in enzyme that synthesizes
melanin. The albinos, affected individual, possesses light colored hair, lack of
pigmentation of the skin and pink eye pupils because of the unmasking of the red
hemoglobin pigment in blood vessels in the retina. For example, albinism is determined by
an allele let’s say ‘a’, and the normal condition by ‘A’. The affected person ‘albinos’ of the
disease would have ‘aa’ genotype and unaffected individuals would be either AA or Aa
genotype (Figure 2).
To conceive a recessive homozygote individual, both the parents must have had the
affected allele. The formation of an affected individual usually depends on the chance of
union of heterozygote carriers. This chance of becoming affected increases when the
mating occurs between the relatives. Mating between relatives produces higher risk
B. Autosomal Dominant inheritance
The autosomal dominant inheritance is characterized by the presence of an autosomal
allele which is dominant in nature. In other words, the normal allele is recessive and the
abnormal allele is dominant. In autosomal dominant inheritance, the affected individual
tends to appear in every generation since the abnormal allele carried by the affected
individuals has come from one of the affected parent. It means every affected individual
has at least one affected parent. Only one affected parent either mother or father can
affect all the siblings. The affected parents transmit the trait to both sons and daughters
equally. Some of the common examples of autosomal dominant disorders in human are
Achondroplasia, Huntington’s disease, Phenylthiocarbamide (PTC) taste etc. A typical
pedigree for a dominant disorder of PTC sensitivity is shown in Figure 3. In the given
pedigree, individuals who can taste bitter is denoted by either ‘TT’ or ‘Tt’, whereas,
individuals who could not taste the bitterness are represented by the presence of ‘tt’.
C. X linked Recessive Inheritance
In X-linked recessive inheritance, affected phenotypes showed sex differentiation.
Typically, more males are affected than the females. This is because a female showing the
phenotype can result only from a mating in which both the mother and the father bear the
allele, whereas a male with the phenotype can be produced when only the mother carries
the allele. For example, if the father is normal and the mother is affected then all the sons
will be affected while half of the daughters will be carrier of the affected trait. In case of
normal father and carrier mother, they will give birth to sons, half of whom are affected and
the other half normal. On the other hand, when the father is affected and mother is normal
then none of the offspring are affected. All the sons will be normal but all the daughters
must be heterozygous “carriers” because females received one of their X chromosomes
from their fathers. Some of the common examples of X-linked recessive disorders in human
are haemophilia, duchenne muscular dystrophy (DMD), testicular feminization syndrome
etc. Perhaps the best known example of X-linked recessive disorder is hemophilia, a
difficulty in which a person’s blood fails to clot due to the absence of protein called factor
VIII. The most famous cases of hemophilia are found in the pedigree of the royal families of
Europe.
For example, haemophilia is determined by an allele Xa, and the normal condition by XA.
The affected haemophilic person is represented by XaXa and XaY in female and male
respectively. Only one copy of the affected allele is required to express the phenotype in
males. Female who carries one copy of the affected allele that is XAXa do not show the
disease phenotype. Such a person is known as carrier of the disorder and the normal
unaffected person would have ‘XAXA’ or XAY genotypes in female and male respectively
D. X linked Dominant Inheritance
In X-linked dominant inheritance, only one affected allele is sufficient to cause the
disorder. This type of disorder is equally affected in both males and females. It is a rare
inheritance disorder in humans. The affected males pass the trait on to all their daughters
but to none of their sons. When the affected females married to unaffected males, the
disease trait is passed on to half of their sons and daughters. Some of the common of
examples of X-linked dominant disorders in human are hypophosphatemia, a type of
vitamin D – resistant rickets, Rett syndrome, fragile X syndrome etc. For example,
hypophosphatemia is determined by the presence of XD allele. Individual affected with
hypophosphatemia is represented by XDXd, XDXD and XDY. Only one allele is sufficient to
express the disease phenotype. Both males and females are equally affected. The normal
genotype is represented by XdXd and XdY for females and males respectively (Figure 5).
E. Y-linked Inheritance
The Y-linked inheritance is sex specific. Inheritance of such Y-linked genetic trait is
observed only among the males because Y chromosome is found in normal males only.
Such traits are not observed in females. The Y chromosome is received from the father by
all sons, and therefore, if the father is affected all his sons will be affected. This
chromosome will be transmitted to any of the daughters. The phenotype expression of
such genetic trait is limited to the male sex only. One of the common examples of Y-linked
disorder is Y-chromosome infertility. For example, Y chromosome infertility is determine by
presence of ‘I’ allele that is ‘XYI’. Affected males pass the disorder to all his sons but to
none of their daughters (Figure 6).
Analysis of family pedigree helps in tracing out the origin of disease phenotype that is
running in the family members. It also helps in predicting the probability of certain events
that might occur in future. Pedigree analyses are used in genetic testing of new born babies
to identified inheritance of genetic diseases. It is also used for testing of heterozygotes
(carrier) as well as screening before symptoms occur. Pedigrees of individual families are
used by genetic counsellors, to aid them in providing information to families who may be at
risk for various genetic conditions.
As originally developed by W.H.R. Rivers during the Torres Straits expedition of 1898-99. It
was used for the first time in his field research work on the Todas. It is one of the standard
procedures adopted in ethnographic researches in Social Anthropology. The primary aim of
genealogy is the analysis of social organization that is the interpersonal relations and living
arrangements between members of a society. It required extensive interviewing of
individuals in order to record their descent, succession and inheritance. Genealogy is very
much helpful in studying kinship, and thereby in understanding the social structure or
network of relationship among individuals. It is achieved by collecting demographic and
social data and mapping residence details. Therefore, genealogy is often used along with
census and observation method. It is also used in studying the pattern of migration, to
trace out early migrants, discovery of heritage, creating story of family and even creating of
medical history. Therefore, genealogy is more than just tracing a family tree.
Summary
Pedigree is a diagrammatic representation showing the inheritance pattern of a particular
trait or traits. Pedigree analysis of man is done through analysing the results of mating that
have already occurred. The nature of inheritance of autosomal recessive disorder,
autosomal dominant disorder, X-linked recessive disorder, X-linked dominant disorder in
man are commonly analyzed through pedigree.
An autosomal recessive disorder means two copies of an abnormal gene must be present
in order for the disease or trait to develop. However, in autosomal dominant disorder
presence of only one abnormal gene develop the disease and the disease phenotype tends
to appear in every generation of the pedigree. X-linked recessive disorders are more
frequently observed among males than females due to the presence of only one X
chromosome. On the other hand, X-linked dominant disorder required only one copy of the
allele to cause the disorder. Therefore, both males and females are equally affected when
they inherited from their parent who has the disorder.
