Notes in LE005 Genotype-Phenotype Correlation and Patterns of Inheritance

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Status	Last Update	Fields
Published	10/03/2024	Define genotype
Published	10/03/2024	Define phenotype
Published	10/03/2024	What are the 5 modes of inheritance (3 categories with subcategories)
Published	10/03/2024	Define penetrance
Published	10/03/2024	Define "Mendelian Inheritance"
Published	10/03/2024	What is unit inheritance? (Mendel)
Published	10/03/2024	What is Mendel's law of segregation?
Published	10/03/2024	What is Mendel's law of independent assortment? What would have happened if the traits Mendel studied had been on the same chromosome?
Published	10/03/2024	What is an exception to Mendel's law of independent assortment?
Published	10/03/2024	What is a pedigree?
Published	10/03/2024	How many generations should be included in a pedigree?
Published	10/03/2024	What are the six health history questions to ask for a pedigree?
Published	10/03/2024	Who publishes recommendations for standardized human pedigree nomenclature
Published	10/03/2024	What four changes were made to pedigrees by NSGC?
Published	10/03/2024	What do symbols in NSGC depict?
Published	10/03/2024	What can a dashed line of descent mean?
Published	10/03/2024	What does a break in a relationship line on a pedigree mean?
Published	10/03/2024	How does one show consanguinity on a pedigree?
Published	10/03/2024	What are the 4 patterns of mendelian inheritance?
Published	10/03/2024	Define autosomal dominant
Published	10/03/2024	In {{c1::}} inheritance, males and females are equally affected and equally capable of transmitting a disease
Published	10/03/2024	In autosomal dominant inheritance the probability of affecter (heterozygous) individuals transmitting the condition is {{c1::}}
Published	10/03/2024	Define codominance
Published	10/03/2024	Define autosomal recessive inheritance
Published	10/03/2024	Define consanguinity
Published	10/03/2024	The offspirng of {{c1::}} have an increased risk of having recessive disorders over that of the general population
Published	10/03/2024	How can you find consanguinity in individuals when you don't get this history orally?
Published	10/03/2024	Define obligate carrier
Published	10/03/2024	Draw the pedigree symbol for a carrier not likely to mainfest disease regardless of inheritance pattern
Published	10/03/2024	Draw the pedigree symbol for an asymptomatic carrier clinically unaffected by the disease at present
Published	10/03/2024	Define an X-linked trait
Published	10/03/2024	X-linked traits are classified as dominant or recessive depending on the {{c1::}} needed to cause the disease in females
Published	10/03/2024	Males are {{c1::}} for the X chromosome
Published	10/03/2024	{{c1::}} is responsible for sex chromosome dosage compensation in XX individuals
Published	10/03/2024	When does X-chromosome inactivation occur?
Published	10/03/2024	What is assumed with obligate carriers?
Published	10/03/2024	Random inactivation of an X chromosome does not depend on {{c1::}}
Published	10/03/2024	What does skewed X-inactivation mean?
Published	10/03/2024	Male to male transmission can {{c1::}} in x-linked disorders
Published	10/03/2024	In X-linked recessive conditions {{c1::}} are affected
Published	10/03/2024	Female carriers of an X-linked recess trait have a {{c1::}}
Published	10/03/2024	Skewed proportions means ...
Published	10/03/2024	In X-linked recessive inheritance there is a lack of {{c1::}}
Published	10/03/2024	In X-linked recessive conditions all dauhters of an effected male will be {{c1::}}
Published	10/03/2024	Since only one copy of an X-linked recessive trait is needed for a disease to be clinically expresssed in men, sporadic cases may arrise as a result o…
Published	10/03/2024	Since only one copy of an X-linked recessive trait is needed for a disease to be clinically expresssed in men, {{c1::sporadic cases}} may arrise as a …
Published	10/03/2024	What are the 5 factors affecting observed pattern of inheritance?
Published	10/03/2024	What would reduced or incomplete penetrance look like in a pedigree?
Published	10/03/2024	What is age-related penetrance? What is an example of this?
Published	10/03/2024	Define variable expressivity. Give 3 diseases that demonstrate this.
Published	10/03/2024	Define pleiotropy and give an example
Published	10/03/2024	What is anticipation?
Published	10/03/2024	Anticipation occurs in {{c2::trinucleotide expansion disorders}} such as Fragile X, Huntington's and Myotonic dystrophy as the characterstics underlyi…
Published	10/03/2024	{{c1::Anticipation}} occurs in trinucleotide expansion disorders such as Fragile X, Huntington's and Myotonic dystrophy as the characterstics underlyi…
Published	10/03/2024	Anticipation occurs in trinucleotide expansion disorders such as {{c1::Fragile X, Huntington's and Myotonic dystrophy}} as the characterstics underlyi…
Published	10/03/2024	What are dynamic mutations?
Published	10/03/2024	Define sex limited traits and give an example
Published	10/03/2024	What are the four kinds of non-mendelian inheritance
Published	10/03/2024	What is the threshold effect for mitochondrial DNA
Published	10/03/2024	In mitochondrial DNA, mutations can have different phenotypes depending on t{{c1::issue distribution }}
Published	10/03/2024	What are three features of mitochondrial inheritance?
Published	10/03/2024	In X-linked dominant inheritance males are usually {{c1::more}} affected than female
Published	10/03/2024	In X-linked dominant inheritance, all daughters of affected males will be {{c1::affected }}
Published	10/03/2024	In X-linked dominant inheritance there is {{c1::double}} the number of affected females relative to men
Published	10/03/2024	If an X-linked dominant trait is lethal, liveborn children will only be {{c1::female }}
Published	10/03/2024	Sons and daughters of affected females have {{c1::50%}} chance of receiving the disease allele in X-linked dominant inhertance
Published	10/03/2024	Define Y-linked disorders and how are they transmitted
Published	10/03/2024	There are relatively few Y-linked disorders which are {{c1::exceedingly rare}} because there are so few genes on the Y chromosome
Published	10/03/2024	The most well-known examples of Y-linked disorders typically cause {{c1::infertility }}. Reproduction in these cases requires assistive technolog…
Published	10/03/2024	Define pseudoautosomal inheritance
Published	10/03/2024	In autosomal recessive inheritance males and females are affected {{c1::equally }}
Published	10/03/2024	In autosomal recessive inheritance males and females are {{c1::equally capable}} of transmitting the mutant allele
Published	10/03/2024	In autosomal recessive inheritance family pedifrees usually show affected individuals limited to one group of siblings (this is also called {{c1…
Published	10/03/2024	In autosomal recessive inheritance family pedifrees usually show affected individuals limited to {{c1::one group of siblings}} (this is also cal…
Published	10/03/2024	In autosomal recessive inheritance the probability that the carrier parents will have an affected child is {{c1::25%}}
Published	10/03/2024	Consanguinity may explain the manifestation of {{c1::rare traits }}
Published	10/03/2024	In autosomal recessive inheritance parents are unlikely to be aware of the disease allele unless {{c1::extended family have been affected }}
Published	10/03/2024	Define autosomal recessive
Published	10/03/2024	Pedigree documents must be maintained with protections for patient {{c1::privacy and confidentiality }}
Published	10/03/2024	Draw the pedigree for a family that used a sperm donor
Published	10/03/2024	Draw the pedigree for a family that used a ovum donor
Published	10/03/2024	Draw the pedigree for a family that used a surrogate
Published	10/03/2024	Draw the pedigree for a family that used a surrogate ovum donor
Published	10/03/2024	Draw the pedigree for a family that had a planned adoption
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