Chapter 7: Mendelian Inheritance

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Chapter 7
Mendelian Inheritance

Objectives:
1. Describe Mendelian patterns of inheritance that contribute to inherited disorders.
2. Describe the major characteristics of single gene Mendelian autosomal recessive disorders.
3. Describe the major characteristics of single gene Mendelian autosomal dominant
disorders.
4. Describe the major characteristics of single gene X-linked recessive and dominant
disorders.
5. Identify nontraditional Mendelian disorders such as mitochondrial disorders, genomic
imprinting, unipaternal disomy, and unstable triplet repeat mutations.
6. Describe the role of nurses and other health care professionals in providing information
about Mendelian disease to patients and families.

I. OVERVIEW OF MENDELIAN INHERITANCE

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Chapter 7: Mendelian Inheritance
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A. Mendelian inheritance – often described as single gene mutation,

but actually multifaceted with many manifestations and
phenotypes.
1. Mendel’s Laws of Inheritance
a) 16,000 disorders demonstrated by Mendelian inheritance
b) Law of segregation
(1) Behavior of the chromosomes and genes during meiosis
c) Law of independent assortment
(1) Transmission of two or more genes on different chromosomes in maternal and
paternal gametes
2. Nomenclature and Definitions
a) Homozygous – Individual who possess identical alleles for a gene
b) Heterozygous – Individual who acquires two different alleles for a particular gene
c) Dominant – Represented by capital letter
(1) Prevails in a phenotype
d) Recessive – Represented by small letter
e) Genotype – Set of alleles that make up their genetic constitution typically on genetic
loci
f) Phenotype – outward expression of an allele combination
g) Polymorphism – versions of a gene at one locus
h) Wildtype – common phenotype found in a population
i) Mutation – change in the DNA sequence within the gene
(1) Inherited or sporadic
(2) Result from physical damage to the cell
(a) Environmental or error in DNA replication
(b) Replicated in daughter cells
j) Haplotype – a set of alleles at a certain location on a chromosome
(1) Disparity in a gene is due to polymorphism or mutation

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 Chapter 7: Mendelian Inheritance
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3. Mendelian inheritance disorders

(1) Germline mutations
(2) Spontaneous mutations
(3) Usually occurring in a single gene
(4) Autosomal – non-sex gene on a chromosome
(5) X-linked or Y-linked – mutation occurring on sex chromosome
(6) Defect may be dominant or recessive

II. AUTOSOMAL DOMINANT

A. Characteristics
1. Single allele causes phenotype diseases
a) Homozygous may increase severity
b) 50% chance to pass on disorder
c) Increased mutations with increased father age > 40 years
(1) Examples: Mytonic dystrophy, Marfan syndrome, and polycyctic kidney disease
2. Mytonic dystrophy
a) Adult onset
b) Phenotype: progressive weakness, cardiac conduction, and feeding difficulties
c) Early adult onset related to increased severity
3. Marfan syndrome
a) Disorder of fibrous connective tissue
b) Phenotype: extremely tall, arachodactyl, joint laxity, and mitral value prolapse
c) Phenotype in child-poor prognosis
d) Pectus excavutum, congenital flexion contracture, and cardiac malformation
4. Co-dominance
a) Both alleles contribute to phenotype
(1) ABO blood groups
5. Expressivity

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a) Variation of phenotype expression

b) Neurofibromatosis
(1) Gene – NF1 on chromosome 17q
(2) Disorder in eye, café au lait spots, Lisch nodules and CNS tumors
c) Osteogenesis
(1) Autosomal recessive
(2) Gene – COLA1 and COLA2
(3) Chromosome 7 and 17
(4) Bone fragility
(a) Ranging from mild with no fractures to intrauterine
fractures
(b) Hearing loss
6. Penetrance
a) Gene mutation inherited but individual fails to express abnormal phenotype or exhibits
a non-typical phenotype
7. Incomplete Dominance
a) Combined phenotype
b) Hypercholesterolemia
(1) Related to the number of receptor cells on the liver
(2) Premature heart disease
c) Achondroplasia
(1) Short limbs, low nasal bridge, large heads and lordosis
(2) Homozygous – severe and rare to survive post natal
8. New mutations – Spontaneous
a) Unforeseen condition due to error in transmission of gene
(1) Increases with father’s age

III. AUTOSOMAL RECESSIVE

A. Two mutated alleles necessary for phenotype disease
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1. Transmission
a) Each parent must provide one allele, 1 in 4 chance of homozygous transmission
b) One parent homozygousoffspring will inherit one mutated allele
c) Compound heterozygous
(1) Variety of mutations at same locus
2. Sickle cell disease (SCD)
a) Mutation in globin gene for hemoglobin
b) Crescent shaped hemoglobin molecules
c) Anemia, immunosuppression, gallstones, and delayed growth
3. Cystic Fibrosis-Western European ancestry
a) Gene – CFTR at chromosome 7q31
b) 1,500 mutations mapped
c) Thick mucus in passages of lungs, pancreas, and other organs
d) Pneumonia, constipation, weight loss, and diabetes
e) Onset at birth with meconium ileus, failure to thrive, and respiratory infections
f) Population screening – newborn
(1) Sweat test and genetic testing for confirmation
B. Loss of gene function
1. Newborn screening for hypothyroidism and phenylketonia in all 50 states
2. Early detection early to stop gene expression with treatments
a) Diet
C. Consanguinity – Related by blood/genotype
1. Increase risk for rare alleles
2. Alkaponuria
a) Gene HGD
b) Brown-black urine, arthritis
c) Parents are first cousins in 25% of cases

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IV. X-LINKED DISORDERS

A. Recessive-Gene mutation on X chromosome
1. Manifests hemizygous males and homozygous female most affected
2. Mode of inheritance
a) Father will pass X to daughters
b) Sons unaffected
3. Kallmann
a) Phenotype: hypogonadism, craniofacial, and hearing loss
4. Hemophilia – prolonged bleeding disorder
a) Type: A (classic) – Gene F8 dysfunction in protein Factor VIII
b) Type: B (Christmas) – Gene F9 dysfunction in protein Factor IX
c) Ongoing genetic therapy research with this disorder
5. Duchenne Muscular Dystrophy – Absence of dystrophin
a) Phenotype: muscle weakness, fatigue, clumsy, enlarged calf muscles, and Gower sign
b) Mortality in teens and early 20s
c) Great need for emotional support
B. X-Linked Dominate
1. Rare and usually lethal in males
2. Mode of inheritance – affected motherall daughters and sons affected
3. Incontinentia pigmenti – Gene IP on X chromosome
a) Female phenotype – blisters, hyperpigment, and increased miscarriages
b) Males no survival
4. Rett Syndrome
a) 1st year normal growththen rapid neurological deterioration deterioration stops
and lifespan into decades
C. Inactivation
1. Females XX go through process to inactivate 75% of genes on one of the X chromosomes.
a) Random selection on which genes on each X becomes inactive
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b) Affects phenotype and may mask mode of inheritance

D. Y-Linked – Holandric Inheritance
1. Affects only males
a) Phenotype: skin abnormalities, hairy ears, webbed toes, and tooth enamel
b) All male offspring also affected

V. Non-traditional Inheritance
A. Mitochondrial – 37 genes
1. Energy process – ATP
2. Systems affected: brain, heart, retina, kidney, liver, and skeletal muscles
3. Decrease in ATP
4. Passed from the maternal lines
5. Homoplasmy – identical mitochondrial genome
6. Heteroplasmy – partial mitochondrial genome
7. Affects phenotype
8. Progressive – variable age onset
9. Associated with pregnancy lose
10. Examples: Leber hereditary optic neuropathy and cardiomyopathies
11. Difficult to diagnose
a) Common clinical features related to dysfunction in high energy organs
(1) Exercise intolerance, dementia, seizures, and ataxia
B. Mosaicism – Difference in genetic constituent from other cells in the body
1. Somatic and germline cells
a) Account for peculiar patterns of inheritance
b) Variable phenotype
2. Neurofibromatosis
a) Gene NF1
b) High penetrance and variable expression

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(1) Café au lait spots and Lisch nodules

3. Gonosomal – mutations very early in development and present in somatic and germlines
a) Germlines – typically autosomal dominant and X-linked
(1) Examples: NF1, hemophilia and Duchenne Muscular Dystropy
(2) Difficult to assess because of variable mutation involvement
(3) Appropriate to have all first-degree relatives undergo genetic evaluation and
testing
4. Genomic Imprinting
a) Epigenetic phenomenon
b) Gene inherited from mother or father may result in diverse clinical distinction
c) Prader Willi and Angelman
(1) Deletion on chromosome 15q 11–13
(2) Prader Willi – paternal inheritance
(a) Hypotonia, hypogonadism, childhood obesity
(3) Angelman – maternal inheritance
(a) Autistic, seizures, speech, wide mouth and deep-set eyes
5. Unstable Repeat Expansions
a) Associated with repeats of cytosine, guanine and thymine (CGT) – normal repeats 20–
40
b) Mutation from slipped mispairing
(a) Changes length, number and degree
(b) Fragile X – 54–230 repeats of CGG
(c) Successive generations undergo anticipation with increase
symptoms
c) Fragile X – common for mental retardation, autism and hyperactivity
(1) Gene FMRP – decrease in FMRP production
(2) Long face, high arch, macro-orchidism
(3) Female carrier mild phenotype
d) Huntington Disease
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(1) Slow progressive movement disorder and dementia

(2) CAG anticipator repeat
6. Uniparental Disomy
a) Inheritance of both copies of a chromosome from one parent
b) Inheriting a recessive disorder from one parent

VI. IMPLICATIONS FOR NURSING PRACTISE

A. 5–10% of genetic diseases affect children
1. ½ of pediatric hospitalizations are children with genetic disease
B. Increased family knowledge of diseases
C. Emerging Evidence
1. Nurses need to be aware of Mendelian patterns of inheritance
2. Genetic testing
D. History and Physical
1. Initial observations key
2. Critical to get comprehensive history
a) Health, pregnancy, neonatal, family history, and current illness
3. Diagnostic testing
a) Newborn screening
b) Mutation testing – 400 inheritable diseases
4. Genetic competencies and hereditary disorders and advocacy
a) Nursing critical role in referrals, consultation, and teaching
b) Establishment of genetic competency standards
(1) Genetic knowledge, testing, and patient advocacy

VII. SUMMARY
A. Autosomal Dominant – single allele, 50% chance, male and females equally
affected, and phenotype age dependent

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Chapter 7: Mendelian Inheritance
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B. Autosomal Recessive – two alleles necessary, skips generations, and male

and female equally affected
C. X-Linked – Males and homozygous females
D. Y-Linked - Males
E. Mitochondrial – Maternal inheritance and ATP
F. Family History still key with an expanding nursing role

ACTIVITIES

Classroom
Explore website of personal journeys of Duchenne Muscular Dystrophy patients. (There are
several available on YouTube.) Conduct a classroom discussion on dealing with progressive
diseases and early deaths.

Small Group
Have each group take a symptom of cystic fibrosis and draw a physiological map from
geneprotein production/expressionphenotype/symptomsorgan involvement (e.g.,
constipation, elevated blood glucose, weight loss, pneumonia).

Individual
Assign students a state and have them investigate and report of the newborn screening panel
for that state.

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