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GENE 302
Lecture 16 Pedigrees
27
Biology
Undergraduate 4
03/05/2012

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Term
A pedigree is
Definition
a list of ancestry or genealogical register
Term
Propositus or proband is
Definition
an individual who comes to the attention of the geneticist
Term
Consanguineous
Definition
parents related by blood are denoted by a double line
Term
Autosomal Recessive
Definition
Females and males are equally likely to be affected
Term
In autosomal recessive, affected individuals, if they reproduce, usually have
Definition
unaffected progeny
Term
In autosomal recessive, most affected individuals have
Definition
unaffected parents. Trait disappears in some generations.
Term
In autosomal recessive, the parents of affected individuals are often
Definition
relatives
Term
In autosomal recessive, among siblings of affected individuals, the proportion affected is approximately
Definition
25%
Term
Homozygous recessive disorders arise from
Definition
inbreeding
Term
Mating between two first cousins produces
Definition
homozygotes with a rare recessive abnormal allele
Term
fist cousin marriages give rise to a large fraction of the
Definition
individuals with recessive disorders
Term
Autosomal dominant, females and males are
Definition
equally likely to be affected
Term
autosomal dominant, affected offspring have
Definition
one affected parent (except for rare new mutations)
Term
autosomal dominant, affected parent is equally likely to be
Definition
the mother or the father
Term
Autosomal dominant, on average, half the individuals in sibships with an affected parent are
Definition
affected
Term
In autosomal dominant disorders, they tend to appear in
Definition
every generation of the pedigree
Term
Although dominant disorders can arise spontaneously, affected individuals tend to have a parent that was
Definition
also affected
Term
Number of affected individuals in an autosomal dominant disorder is typically greater than
Definition
autosomal recessive disorders
Term
An example of an autosomal recessive disorder
Definition
PKU, CF, albinism
Term
Examples of autosomal dominant disorders
Definition
Pseudoachondroplasia, Huntington's disease
Term
X-linked recessive disorder
Definition
many more males than females show the phenotype
Term
X-linked disorders, non of the offspring of an affected male show the phenotype, but all of his daughters are
Definition
carriers. in the next generation, half of the sons of carrier daughter show the phenotype.
Term
X-linked recessive disorder, none of the sons of an affected male show the phenotype, nor will they
Definition
pass the condition onto their descendants
Term
X-linked recessive disorders are typically expressed only in the
Definition
males
Term
In X-linked recessive disorder, Alleles are carried unexpressed in the daughters or the affected male, and then are
Definition
passed on the sons in the third generation
Term
Example of X-linked recessive disorder
Definition
hemophilia
Term
The principal consequence of inbreeding is that
Definition
the frequency of heterozygous offspring is smaller than it is with random mating
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