Pedigree and Sex Linkage Notes

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General Biology 2: Pedigree Analysis and Sexual Linkage Inheritance

Pedigree Analysis

 What is a pedigree?
 A pedigree is a family tree that describes the interrelationships of parents and children across
generations.
 Inheritance patterns of particular traits can be traced and described using pedigree.

Sample Pedigree

 What are the functions of a pedigree?


 Describe the mode of inheritance of a trait (Mendelian, non-mendelian or sex linkage inheritance).
 Calculate the probability of occurrence an affected offspring in a given cross.

 How do we understand and make a pedigree?


 Establish symbols.
 Male (square) vs female (circle). Male individual is represented with a square shape, while
circle represents female.
 Affected (shaded) vs unaffected (unshaded) individual. An individual that expresses or is
affected of the trait is shaded. Unshaded shapes are the normal or unaffected individual. A
half-shaded shape indicates that the individual is homozygote for the trait, or a carrier of
the trait.
 Marriage/mating line (line connecting mates) vs. sibship line (line connecting siblings). The
line in the middle of the shape that connects a male and a female indicates marriage or
mating, while the line above a shape indicates sibship line, or the connection between
siblings.
 Fraternal twins (one birth line branching out into the individual twin) vs. identical twins
(same as fraternal twins but with a horizontal bar connecting the branches).
 Generation (Roman numerals) vs. individuals in the same generation, counting left to right
(designated by Hindu-Arabic numerals). Roman Numerals I, II and III indicate the lineage of
generation I is the 1st generation, II is the 2nd generation, so on and so forth. On the other
hand, Hindu-Arabic numerals indicate the order of siblings, or offspring in a specific
generation, it also tells us how many are the number of children in the generation.

 Shapes with a diagonal line indicates


deceased individual.
 Sample Pedigree Chart.

Pedigree Chart of Widow’s Peak Pedigree Chart of Free earlobe

Sex Linkage Inheritance


Sex Linked Genes

 Sex Chromosome and Sex Determination


 There are 46 chromosome a human being has, and 2 of those are sex chromosomes namely
the X and the Y. The other
remaining chromosomes are
autosomes, that dictates all our
bodily functions and traits.
 Sex determination is done through
the Sex Chromosomes. An egg cell
always contains an X chromosome,
if an egg is fertilized by an X
carrying sperm, the fertilized egg
then becomes a female. If an egg is
fertilized by a Y carrying sperm, the
latter becomes a male.
 Other animals have different methods of sex determination.

Bugs, grasshoppers and locusts


have the X-O system. Females
contain two X chromosomes while
males only have 1 X chromosome.

The Z-W system is followed by


chickens and birds, reptiles and
amphibians. Females contain the ZW
sex chromosomes while male have
the ZZ sex chromosomes. Sex
determination depends on what kind
 Sex Linked Gene
 These are genes located on either of the sex chromosomes.
 Genes on the Y chromosome are called Y-linked genes; there are only a few of these.
 Genes on the X chromosome are called X-linked genes.
 X-linked genes follow specific patterns of inheritance.
For a recessive X-linked trait to be expressed:
 A female needs two copies of the allele (homozygous) to express the trait. A female that
only has one allele is a carrier and may pass on the gene to her offspring.
 A male only needs one copy of the allele (hemizygous) to express the trait. This because
male only contain one X chromosome.
 X-linked recessive disorders are much more common in males than in females.
Some disorders caused by recessive alleles on the X chromosome in humans
 -Color blindness (mostly X-linked)
 -Duchenne muscular dystrophy
 -Hemophilia
 Genotypes of X-linked traits
 Genotype for colorblindness. Just replace the superscript letter for Hemophilia and Muscular
Dystrophy.

Genotypes Phenotype
XX Normal Female
XXc Normal Female (Carrier)
XcXc Colorblind Female
XY Normal Male
XcY Colorblind Male

 Y-linked Genes
 These Genes are only found on Human males.
 Y-linked traits are passed on from the father to the male child only.
 Y-linked Traits
 Hypertrichosis pinnae auris (Hairy ears)
 Webbed toes

 Porcupine man (ichthyosis hystrix


gravior)
 Sex Limited Traits
 These traits are autosomal. Which means the alleles are not found in the sex chromosomes but on
the autosomes.
 The genes for this trait behave exactly the same with how any autosomal gene behaves.
 The genes occur in both sexes (probably on the autosomes) but are normally expressed only in the
sex having the appropriate hormonal determiner (activator).
 This trait is only expressed in one sex.
 In cattle for instance, lactation is only expressed in
females but never in males. Although the gene may be
passed on to male and female cattle but is only
expressed on females. Male cattle with lactation gene
will never express the trait.
 Genotype for Lactating trait.

Genotype Phenotype
XLXL Female Lactating
XLX Female Lactating
XX Female Non-lactating
XLYL Male Non-lactating
XLY Male Non-lactating
XY Male Non-lactating

 Other examples of Sex Limited Traits.


 Beard in Human males
 Egg Production for Birds and Reptiles
 Feather colors of Peacock and other Male birds

 Sex Influenced Traits


 Sex-influenced traits are autosomal traits that are influenced by sex.
 The character seems to act as a dominant in one sex and a recessive in the other. Sex-controlled
character, also called Sex-influenced Character, a genetically controlled feature that may appear in
organisms of both sexes but is expressed to a different degree in each.

 Examples of Sex Influenced


Traits
 Human Pattern Baldness

 Length of index finger


 Body hair
 Muscle mass
 Genotypes for Human Pattern Baldness

Genotype Phenotype
XBYB Male Bald
XBYb Male Bald
XbYb Male non-bald
XBXB Female Bald
XBXb Female non-bald
Xbxb Female non-bald

 The trait seemed to be a dominant trait for males and recessive for female.

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