Phenotypes and Genotypes

The way an organism looks and behaves is called its ■

.(phenotype)
The allele combination an organism contains is known
.(as its genotype)
An organism is (homozygous) for a trait if its two ■
.alleles for the trait are the same
An organism is ( heterozygous) for a trait if its two ■
.alleles for the trait are different from each other
Inheritance patterns
Recessive: expressed only when both chromosomes of■
.a pair carry mutant alleles at a locus (2 mutant copies)
Dominant: expressed when one chromosome of a pair ■
.carries a mutant allele at a locus. (1 mutant copy)
Inheritance patterns
Autosomal: on any of the other 22 chromosome pairs
.Sex-linked: on the X or Y chromosomes
Penetrance and Expressivity
Penetrance : is the probability that a mutant allele or ■
.alleles will have any phenotypic expression at all
The proportion of individuals of a specified genotype
.who show the expected phenotype
Autosomal dominant traits casionally may skip a
generation Tate of penetrance applies to a pulation
not an individual
Penetrance and Expressivity
Expressivity refers not to the presence or absence of a
phenotype, but to the severity of expression of that
phenotype among individuals with the same disease-
.causing genotype
When the severity of disease differs in people who
have the same genotype, the phenotype is said to show
.variable expressivity
Autosomal Recessive Inheritance
Autosomal recessive traits are only expressed in
individuals who carry two mutant alleles inherited from
.each parent
Autosomal recessive traits usually arise in children of
.phenotypically normal parents
CHARACTERISTICS OF AUTOSOMAL RECESSIVE
INHERITANCE
An autosomal recessive phenotype, if not isolated, is •
typically seen only in the sibship of the proband, and not
.in parents, offspring, or other relatives
For most autosomal recessive diseases, males and
.females are equally likely to be affected
Parents of an affected child are asymptomatic carriers
.of mutant alleles
The parents of the affected person may in some cases
be consanguineous. This is especially likely if the gene
.responsible for the condition is rare in the population
The recurrence risk for each sib of the
.proband is in 4 (25%)
Sex-Influenced Autosomal
Recessive Disorders
Disorder is expressed in both sexes but with different
.frequencies or severity
Hereditary hemochromatosis is an autosomal recessive
phenotype that is 5 to 10 times more common in males
.than in females
Autosomal Dominant Inheritance
Expressed in heterozygous or homozygous individuals
Affects an individual of either sex
Transmitted by either sex An affected person usually
.has at least one affected parent
Transmitted to 50 % of offspring
X-linked recessive inheritance
Affects mainly males
Affected males are usually born to unaffected parents
Females may be affected if the father is affected and
the mother is a carrier, or occasionally as a result of
nonrandom X-inactivation
Y-linked inheritance
Affects only males
Affected males always have an affected father
All sons of an affected man are affected
Mutations in Y-linked genes usually lead to male
infertility therefore usually not passed on to
.future generations