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There are 44 autosomes in Man comprising 22 homologous pairs of chromosomes. Upon each
chromosome, the genes have a strict order, each gene occupying a distinct locus in unison
with its counterpart of maternal or paternal origin.
Alleles are alternative forms of genes which arise by mutation, normal types being referred to
as 'wild'. If both members of a gene pair are identical then the individual is described as being
homozygous, whereas if they are different, they are said to be heterozygous.
Gene-specified characteristics are termed traits. There are three types of disorder depending
on the expression of traits:
EXAMPLES
As with autosomal recessive disorders, both sexes may be affected, but, there may be
different degrees of severity - variable expression - between individuals.
Rarely, an individual with a mutant gene may have a normal phenotype. This is termed 'non-
penetrance'. The gene and trait may still be transmitted to the individual's offspring.
About 2200 autosomal dominant traits are known to date. They tend to be defects of carrier,
structural or receptor proteins. The most common autosomal dominant diseases are:
• dominant otosclerosis 3
• familial hypercholesterolaemia 2
• adult polycystic kidney disease 1
• multiple exostoses 0.5
• Huntington's disease 0.5
• neurofibromatosis 0.4
• myotonic dystrophy 0.2
• congenital spherocytosis 0.2
• polyposis coli 0.1
• dominant blindness 0.1
• dominant congenital deafness 0.1
• achondroplasia
• antithrombin III deficiency
• Ehlers-Danlos syndrome
• Gilbert's disease
• hereditary haemorrhagic telangiectasia
• hereditary elliptosis, hereditary spherocytosis
• Huntington's disease
• idiopathic hypoparathyroidism
• intestinal polyposis
• marble bone disease
• Marfan's syndrome
• neurofibromatosis
• polycystic kidney disease (adult)
• protein C deficiency
• osteogenesis imperfecta
• Treacher Collins syndrome
• tuberous sclerosis
• Von Willebrand's disease
AUTOSOMAL RECESSIVE
A list of some diseases that are associated with autosomal recessive inheritance is presented
below:
• oculocutaneous albinism
• alkaptonuria
• Bartter's syndrome
• cystic fibrosis
• endemic goitrous cretinism
• familial amaurotic idiocy
• galactosaemia
• Gaucher's disease
• glycogen storage disease
• phenylketonuria
• Wilson's disease
• xeroderma pigmentosa
AUTOSOMAL CODOMINANT
Autosomal codominant inheritance is defined by the ability to detect either or both of two
alleles in an individual. The two fragments can also be followed through the family pedigree.
Hence, the pedigree pattern of human codominant traits resembles that of autosomal
dominant inheritance except that both alleles can be distinguished.
• if two persons with AB blood type have children, the children can be type A, type B, or
type AB
• the possible phenotypes are
o A, AB and B
o there is a 1A:2AB:1B phenotype ratio - this compares with a 3:1 phenotype
ratio found when one allele is dominant and the other is recessive
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A gene can exist in several different forms called alleles. (Think of the gene as "ice cream" and
the alleles as "chocolate, vanilla, coffee, pistachio" or whatever). Every person inherits one copy
of a gene from each parent, and so has only two alleles, even if more than two alleles exist for
that gene.
A *dominant* allele is one that masks the expression of a *recessive* allele. For example, in
humans the allele coding for a little "Widow's Peak" (a pointy bit of hair coming down onto the
forehead) is dominant
to the allele coding for a straight hairline across the forehead. We'll call the Widow's Peak allele
(W) and the straight hairline allele (w).
A person who inherits two copies of W (genotype WW) will have a Widow's peak, as will a person
who inherits one copy of each of the alleles (genotype Ww), because W masks the expression of
w. A person who has the genotype ww will have a straight hairline.
Now, back to the autosomal genetic disorders. An autosomal gene is one that occurs on one of
the 22 pairs of autosomes (i.e., the chromosomes that are not the X and/or Y chromosomes that
are involved in sex determintion). That's all that "autosomal" means.
If an autosomal genetic disorder is *dominant* (X), only then will you get the 75% expression in
the cross you describe. If the condition is recessive (x), then a cross between a heterozygote
(Xx) and a homozygote (XX; unaffected) will give 100% unaffected offspring, 50% of whom will be
carriers of the condition.
An X-linked gene is one that is located on the X chromosome. And just as with an autosomal
trait, the dominant version will *mask* the expression of the recessive one. This can get very
complicated, so if you need more information on how X-linked traits are inherited differently by
males and females (mammals), then please see my Gentics notes here:
http://www.bio.miami.edu/dana/250/25008_5.html
X-linked diseases are single gene disorders that reflect the presence of defective genes
on the X chromosome. This chromosome is present as two copies in females but only as
one copy in males.
The inheritance patterns of X-linked diseases in family pedigrees are complicated by the
fact that males always pass their X chromosome to their daughters but never to their
sons, whereas females pass their X chromosomes to daughters and sons with equal.
Like autosomal single gene disorders, X-linked diseases can be either recessive or
dominant. X-linked recessive diseases include red-green colour blindness, haemophilia
and the Duchenne and Becker forms of muscular dystrophy (both of which involve
mutations in the DMD gene). These diseases are much more common in males than
females because two copies of the mutant allele are required for the disease to occur in
females, while only one copy is required in males.
The inheritance pattern of an X-linked recessive disease has the following characteristics:
http://en.wikipedia.org/wiki/Genetic_disorder
On a pedigree, polygenic diseases do tend to “run in families”, but the inheritance does not fit
simple patterns as with Mendelian diseases. But this does not mean that the genes cannot
eventually be located and studied. There is also a strong environmental component to many of
them (e.g., blood pressure).
• asthma
• autism
• autoimmune diseases such as multiple sclerosis
• cancers
• cleft palate
• diabetes
• heart disease
• hypertension
• inflammatory bowel disease
• mental retardation
• obesity