Pedigree 200507124458

Babasaheb Bhimrao
Ambedkar University
Submitted by-
Sapna Srivastava
M. Sc
Biotechnology
4th semester
 Pedigree analysis is the process of examining a
pedigree to determine the pattern of inheritance
for a trait.
 Pedigrees are often used to determine if a trait is
dominant or recessive.
 Pedigrees show the presence or absence of a trait
through several generations of a family by using a
series of symbols to represent family relationships,
with squares representing males and circles
representing females.
 A marriage is shown by connecting two symbols
with a horizontal line.
 The presence of a trait is indicated by a shaded
circle or square, while the absence of a trait is
indicated by a clear symbol
Pedigree symbols
Genetic
disorders
Autosomal X linked
Autosomal Autosomal X linked X linked

recessive dominant recessive dominant
 The unusual phenotype of a recessive
disorder is determined by homozygosity for a
recessive allele, and the unaffected
phenotype is determined by the
corresponding dominant allele.
 Sufferers of this disorder are of genotype
p/p, and unaffected people are either P/P or
P/p
 As it is recessive in nature skip in generation
is observed.
 Two affected parents always has affected
children
 Generallythe disease appears in the progeny
of unaffected parents and that the affected
progeny include both males and females
equally.
UNAFFECTED
PARENTS
AFFECTED PROGENY
 From this pattern we can immediately
deduce autosomal inheritance, with the
recessive allele responsible for the
exceptional phenotype.
 Furthermore, we can deduce that the
parents must both be heterozygotes, P/p.
AFFECTED
 The striking “white” phenotype is caused by a
defect in an enzyme that synthesizes melanin.
 In humans, such coloration is most evident in
hair, skin, and retina.
 Who have the homozygous recessive genotype
a/a leads to white hair, white skin.
UNAFFECTED
HETEROZYGOU
S PARENTS
AFFECTED
PROGENY
 Mucus build up in some internal organs.
 Abnormal absorpion of nutrients in small
intestine.
 Itis caused by the substitution of a single
amino acid in the hemoglobin proteins in red
blood cells
 Symptoms-physical damage, pain, paralysis
and organ damage
 In autosomal dominant disorders, the normal
allele is recessive and the abnormal allele is
dominant.
 Autosomal dominant disorder are that the
phenotype tends to appear in every
generation of the pedigree.
 Affected children usually have an affected
parents.
 Affected parents can produce unaffected
child.
 Males and female are affected in equal
frequency.
 A type of dwarfism. In this case, people with
normal stature are genotypically d/d, and the dwarf
phenotype in principle could be D/d or D/D
 It is believed that in D/D individuals the two
“doses” of the D allele produce such a severe effect
that this genotype is lethal. If true, all
achondroplastics are heterozygotes.
PEDIGREE OF AUTOSOMAL DOMINANT DISORDERS
 The phenotype is one of neural degeneration,
leading to convulsions and premature death.
 However, it is a late-onset disease, the
symptoms generally not appearing until after the
person has begun to have children.
 Each child of a carrier of the abnormal allele
stands a 50 percent chance of inheriting the
allele and the associated disease.
 Few phenotypes determined by alleles on the
differential region of the X chromosome are
related to sex determination.
 More males are affected than females.
 Skip in generation is observed.
 None of the offspring of an affected male are
affected, but all his daughters must be
heterozygous “carriers” because females must
receive one of their X chromosomes from their
fathers.
 Affected father do not pass to their sons.
 In which a person’s blood fails to clot. Many
proteins must interact in sequence to make
blood clot.
 Haemophiliacs have trouble in clotting their
blood
 The most common type of hemophilia is
caused by the absence or malfunction of one
of these proteins, called factor VIII.
 More common in male than female.
 In this there is a decreased ability to see color or
differences in color.
 Males are more likely to be color blind than
females, as the genes responsible for the most
common forms of color blindness are on the X
chromosome.
 As females have two X chromosomes, a defect in
one is typically compensated for by the other.
Example of an Ishihara color test

plate. People with normal vision
should see the number "74". Many
people who are color blind see it as
"21", and those with total color
blindness may not see any numbers.
 Fatal X-linked recessive disease. The
phenotype is a wasting and atrophy of
muscles.
 Generally the onset is before the age of 6,
with confinement to a wheelchair by 12 and
death by 20.
 The gene for Duchenne muscular dystrophy
has now been isolated and shown to encode
a muscle protein, dystrophin.
Following characteristics of X linked dominant
disorders-
 Affected males pass the condition on to all
their daughters but to none of their sons.
 Females married to unaffected males pass
the condition on to half their sons and
daughters.
 Every affected persons has at least one
parent with the trait.
 Males and females are equally likely to be
affected.
 It is a type of vitamin D–resistant rickets a group of
metabolic disorders characterized by renal tubular
defects in phosphate transport and bone
abnormalities resulting in hypophosphatemic .
 It is an electrolyte disorder in which there is a low
level of phosphate in the blood.
 It will leads to muscle dysfunction and weakness,
mental status changes, instability of cell membranes
due to low adenosine triphosphate (ATP) levels .
 Incontinentia pigmenti (IP) is a rare X-linked
dominant genetic disorder that affects the skin,
hair, teeth, nails and central nervous system.
 The disease is characterized by skin
abnormalities.
 It is caused by a mutation in the IKBKG gene,
which encodes the NEMO protein, which serves
to protect cells against TNF-alpha-induced
apoptosis. A lack of IKBKG therefore makes cells
more prone to apoptosis.

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Babasaheb Bhimrao

Autosomal Autosomal X linked X linked

Example of an Ishihara color test

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