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Principles of Human Heredity Exam 2 Questions With 100% Verified Answers

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©BRAINBARTER 2024/2025 Principles of Human Heredity Exam 2 Questions With 100% Verified Answers Mode of Inheritance - answerAutosomal recessive Autosomal dominant X-linked dominant X-linked recessive Y-linked Mitochondrial Genotypic ratios persist but phenotypic ratios may vary due to: - a...

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Principles of Human Heredity Exam 2
Questions With 100% Verified Answers


Mode of Inheritance - answer✔Autosomal recessive


Autosomal dominant

X-linked dominant

X-linked recessive

Y-linked Mitochondrial


Genotypic ratios persist but phenotypic ratios may vary due to: - answer✔.Alleles interacting

with each other

.Genes interacting with other genes and the environment

.Non-nuclear genes

.Lack of segregation of genes if on the same chromosome


Lethal Alleles - answer✔.Allele combination are not compatible with life


. Allele combinations cause death before reproductive age.


Achondroplastic dwarfism - answer✔a disorder of bone growth that prevents the changing of

cartilage (particularly in the long bones of the arms and legs)

, ©BRAINBARTER 2024/2025




a= normal height

A= achondroplasia


Multiple alleles - answer✔.alternate forms of the same gene that influence the same trait


. while an individual carries two alleles per gene for each autosomal gene, the population can

contain many alleles for a given gene

. The different allele combinations often produce variations in the phenotype


Incomplete dominance - answer✔.Heterozygous phenotype is between those of the two

homozygotes




FAMILIAL HYPERCHOLESTEROLEMIA (FH)Heterozygote has approximately half the

normal number of receptors in the liver for LDL cholesterol

Homozygous for the mutant allele totally lacks the receptor, and so their serum cholesterol level

is very high


Codominant Alleles - answer✔.Heterozygous phenotype results from the expression of both

alleles.

, ©BRAINBARTER 2024/2025


EXAMPLE: ABO gene encodes a cell surface protein. IA allele produces A antigen. IB allele

produces B antigen. i (IO) allele does not produce antigens. Alleles IA and IB are codominant,

and both are completely dominant to i.


Epistasis - answer✔When one gene affects the expression of a second gene.




EXAMPLE: Bombay phenotype

H gene is epistatic to the I gene. The H protein is a cell surface protein to which the A or B

antigens are attached. The hh genotype = no H protein expressed. Without H protein the A or B

antigens can not be attached to the surface of the RBC. All hh genotypes have the phenotype of

type O, although the ABO blood group can be anything (A, B, AB, or O)


Penetrance - answer✔.The likelihood that a trait is expressed when you have the genotype


. Both genetic and environmental factors can affect penetrance.


Incomplete penetrance - answer✔the disease phenotype is not always observed among

individuals carrying the disease-associated genotype.


variable expressivity - answer✔A phenotype that varies in intensity


Expressivity - answer✔Phenotype for a given genotype varies in intensity among different

people

, ©BRAINBARTER 2024/2025


EXAMPLE: A dominant form of deafness: FF or Ff individuals can show mild, moderate or

profound deafness


Example of penetrance - answer✔Probability that a disease phenotype will appear when a

disease-related genotype is present. It is an all-or-none expression of a single gene.


Camptodactyly - answer✔Stiff, permanently bent little fingers (autosomal dominant)


Gene expression - answer✔.many factors can effect


. there are genotypes from which the phenotype is not easily predicted, because of gene-gene

interaction and gene-environment interaction




EXAMPLES: temperature and age


Genes - answer✔give consistent and regular patterns of expression


Pleiotropy - answer✔.The appearance of several apparently unrelated phenotypic effects caused

by a single gene.

.Refers to a Mendelian disorder with several symptoms

.Affected individuals express variable subsets of symptoms.

.Usually means that a gene is involved in multiple processes.


Pleiotropy example - answer✔Marfan's Syndrome .Has a high degree of variable expressivity

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