Pedigrees
Jan 21, 2016
Pedigrees
NGSSS
SC.912.L.16.2
Discuss observed inheritance patterns caused by various modes of inheritance, including dominant, recessive, codominant, sex-linked, polygenic and multiple alleles
Genetic conditions caused by a mutation in a single gene follow predictable patterns of inheritance within families
The four types of inheritance patterns:– Autosomal recessive– Autosomal dominant– X-linked recessive– X-linked dominant
PEDIGREE
A pedigree is a tool for studying inheritance in humans (in particular, inherited diseases).
It shows the occurrence and appearance (phenotype) of a particular genetic trait, as it is passed from one generation to the next in a family.
How to Read Pedigrees= = malemale = = femalefemale
= = parentsparents
oror = = individualindividual whowho showsshows thethe traittrait
oror = = heterozygousheterozygous carriercarrier ofofautosomalautosomal traittrait
= = offspringoffspring
11 22 33I, II, III, IV, or VI, II, III, IV, or V = = generationgeneration
More Symbols
Identical Twins
Non-Identical Twins
Deceased Individuals
PATTERNS OF INHERITANCEAutosomal Recessive Trait
Seen when individual has 2 copies of allele (One copy of allele, individual is carrier but does not develop condition)
Males and females affected equally
PATTERNS OF INHERITANCEAutosomal Dominant Trait
Condition expressed in individuals with just one copy of allele
Males and females have equal chance of passing on trait to offspring
PATTERNS OF INHERITANCESex-linked Recessive
Not expressed when one normal allele present
Fully evident in males because they have only one copy of X chromosome
Women rarely affected unless both X chromosomes carry the allele
No father to son transmission, but all daughters will inherit one copy of allele (carrier)
PATTERNS OF INHERITANCESex-linked Dominant
Located on X chromosome
so no father to son
transmission but all
daughters affected
Expressed when only one copy of allele present
Carriers are not possible
Your task…
Determine the pattern of inheritance for…– Cystic Fibrosis– Achondroplasia– Tay-Sachs Disease– Huntington’s Disease
Cystic FibrosisPattern of Inheritance?
AchondroplasiaPattern of Inheritance?
Tay-Sachs DiseasePattern of Inheritance?
Huntington’s DiseasePattern of Inheritance?
HemophiliaMode of Inheritance?