4.0 Pedigree Analysis - 063559

PEDIGREE ANALYSIS
BY
YEBOAH KWAKU OPOKU Ph.D.
DEPARTMENT OF BIOLOGY EDUCATION
FACULTY OF SCIENCE
UNIVERSITY OF EDUCATION, WINNEBA
Introduction
• Determining the genetic basis of a trait requires controlled matings
and large numbers of offspring.
• The analysis of segregation by this method is not possible in human
families, and it is usually not feasible for traits in large domestic
animals.
• However, the mode of inheritance of a trait can sometimes be
determined by examining the appearance of the phenotypes that reflect
the segregation of alleles in several generations of related individuals.
Introduction
• This is typically done with a family tree that shows the phenotype of each
individual called a pedigree.
• Using such type of family tree to determine inherited traits in a family or generation
is referred to as pedigree analysis.
• A member of a family who first comes to the attention of a geneticist is called
the propositus.
• Usually the phenotype of the propositus is exceptional in some way
• This is normally used for tracing genetic disorder such as heamophilia, sickle cell
anaemia etc.
• However, it can be used for any to trace any trait and its mode of inheritance in the
family
The use of pedigree analysis
• It makes use of the relationship between affected and unaffected
parents and siblings to determine how a character is inherited
• Modes of inheritance
• 1. Autosomal Dominant
• 2. Autosomal Recessive
• 3. X-linked Dominant
• 4. X-linked Recessive
• 5. Y-linked
Meaning of symbols
Autosomal dominant inheritance
• A pattern of inheritance in which an affected individual has one copy
of a mutant gene and one normal gene on a pair of autosomal
chromosomes.
• "Autosomal" means that the gene in question is located on one of the
non-sex chromosomes (Chromosomes 1 through 22)
• "Dominant" means that a single copy of the disease-associated
mutation is enough to cause the disease
• Here the normal allele is recessive, and the abnormal allele is
dominant
Autosomal dominant inheritance
• Individuals with autosomal dominant diseases have a 50-50 chance of
passing the mutant gene and therefore the disorder on to each of their
children.
• Examples of autosomal dominant diseases include Huntington disease,

neurofibromatosis, Marfan syndrome, and polycystic kidney disease
Autosomal dominant
Aa X aa
1. Phenotype tends to appear in
every generation of the
pedigree
2. Affected fathers and mothers
transmit the phenotype to
both sons and daughters
Autosomal recessive
• Autosomal recessive diseases require that the individual have two copies
of the mutant gene.
• These disorders are usually passed on by two carriers.
• Their health is rarely affected, but they have one mutated gene (recessive
gene) and one normal gene (dominant gene) for the condition.
• Examples: Phenylketonuria (PKU), Cystic Fibrosis, Sickle Cell Anemia,
Tay-Sachs Disease
PKU
• A mutation in the gene encoding this enzyme alters the amino acid
sequence in the vicinity of the enzyme’s active site, the enzyme cannot
bind or convert phenylalanine (its substrate).
• Therefore phenylalanine builds up in the body and is converted instead
into phenylpyruvic acid, a compound that interferes with the
development of the nervous system, leading to mental retardation
The two key points
• (1) Generally the disease appears in the progeny of unaffected parents
(2) The affected progeny include both males and females
X-linked dominance
• A mode of genetic inheritance by which a dominant gene is carried on
the X chromosome.
• As an inheritance pattern, it is less common than the X-linked
recessive type.
• In medicine, X-linked dominant inheritance indicates that a gene
responsible for a genetic disorder is located on the X chromosome
• Only one copy of the allele is sufficient to cause the disorder when
inherited from a parent who has the disorder.
X-linked dominance
1. Affected males pass the condition to all their daughters but to none of
their sons
2. Affected heterozygous females married to unaffected males pass the
condition to half their sons and daughters
• Vitamin D resistant rickets: X-linked hypophosphatemia
• Rett syndrome (95% of cases are due to sporadic mutations)
• Most cases of Alport syndrome
• Incontinentia pigmenti
• Giuffrè–Tsukahara syndrome
• Goltz syndrome
X-linked recessive inheritance
• A mode of inheritance in which a mutation in a gene on the X chromosome causes
the phenotype to be always expressed in males (who are necessarily hemizygous for
the gene mutation because they have one X and one Y chromosome) and in females
who are homozygous for the gene mutation
• Females with one copy of the mutated gene are carriers.
• X-linked inheritance means that the gene causing the trait or the disorder is located
on the X chromosome.
• Females have two X chromosomes, while males have one X and one Y
chromosome.
• Carrier females who have only one copy of the mutation do not usually express the
phenotype
• Many more males than females show the phenotype under study
• Hemophilia A
• Red-green colour blindness
• Glucose-6-phosphate dehydrogenase deficiency
• Duchenne muscular atrophy
Y-link inheritance
• The trait is carried on the Y chromosome and is transmitted from father to
son only
• Y-linked traits never occur in females, and occur in all male descendants of
an affected male.
• The concepts of dominant and recessive do not apply to Y-linked traits, as

only one allele (on the Y) is ever present in any one (male) individual.
Y-linked inheritance
 Only males are affected

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PEDIGREE ANALYSIS

• Examples of autosomal dominant diseases include Huntington disease,

• The concepts of dominant and recessive do not apply to Y-linked traits, as

 Only males are affected

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