Notes based on genetics week, covering genetic principles and inheritance, genome analysis, non-cancer genetic disorders, inherited predisposition to cancer, familial cancer, clinical Assessment and dysmorphology, new treatments for inherited disorders and the future and ethics.
Additional Notes
Application of Genetic Principles
Typical Mendelian Inheritance
Atypical Mendelian Inheritance
Genome Analysis in Practice for Patients
📚 Resources
with Inherited Conditions EuroGEMS.org Home page
The Commoner Non-Cancer Genetic
Quick links to a huge range of
Conditions
useful, free, genetic & genomic
Inherited Predisposition to Cancer information sources &
Clinical Assessment and Dysmorphology https://www.eurogems.org/i
New Treatments for Inherited Conditions ndex.html
and Future Developments in Genomics
Ethical Dilemmas
University of Glasgow :: Library / All Format
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Description xi, 332 p. : ill. (some col.). ISBN
9781118293713 (e-book) 9781405169745 (pbk.)
Note Electronic book available via the
https://eleanor.lib.gla.ac.uk/record=b2987378
,Application of Genetic Principles
📚 Essential Medical
Genetics
Typical Mendelian Inheritance
Express
Chapters 8 and 9 Varia
serie
✅
can
Learning sam
Outcomes Com
Revise pedigree A
drawing and g
interpretation o
Understand H
autosomal Mutations = pathogenic variants
d
dominant Single gene (Mendelian disorders) are due to i
inheritance, new mutations in one or both memebrs of a pair of d
mutations and autosomal genes or to mutations in genes on l
modifier gene the X or Y chromosome (sex-linked o
variants inheritance). i
Understand the These disorders show characteristic patterns N
concepts of of inheritance in family pedigrees. s
variable
A single condition may result from: Inco
expression,
incomplete genetic heterogeneity - different modes T
penetrance and of inheritance o
gonadal
locus heterogeneity - mutations in S
mosaicism
different genes p
Understand a
allelic heterogeneity - different mutations
autosomal n
in the same gene
recessive
Clinical heterogeneity refers to the situation The
inheritance
in which different mutations at a single locus also
including
result in different clinical conditions of a
pseudo-
dominant
inheritance
Learn about X-
linked recessive
and X-linked
dominant
inheritance
, severity between males Adult polycystic Both parents of an affected child ne
and females kidney disease be atleast carriers, if not affected.
(APKD)
Male-to-male If both parents are unaffected, their
transmission Neurofibromatosis offspring has a:
type 1 (NF1)
Complete or incomplete 25% chance of being affected,
penetrance, variable Huntington’s
50% chance of carrying
expressivity, modifier disease (HD)
genes or genetic 25% chance of completely
Von Willebrand
anticipation unaffected
disease (bleeding
Only one parent needs disorder) Horizontal pattern of inheritance - th
to be affected condition skips generations but
heterozygously for a possibility of multiple siblings of the
child to be affected. same parents being affected.
In such a case, 50% A generally equal disease frequenc
chance of offspring and severity between males and
inheriting the gene females
and be affected. Consanguinity in the family
Modifier variants affect More constant expressivity in a fam
severity and penetrance,
such as FGFR2 variants
in BRCA2 mutation
carriers
X-Linked Recessive X-Linked Dom
Features Conditions Features
“Knight’s move pattern” Duchenne Pattern is l
muscular autosomal
No male-to-male transmission
dystrophy but no mal
Mostly or only males affected - Sex ratio M>>F transmissio
Becker
Male children cannot carry, will only be affected or muscular Vertical tra
unaffected dystrophy
Male-to-fem
Occasional “manifesting carriers”, women who are Haemophilia transmissio
mildly affected, due to skewed X-inactivation A and B daughters
Mother must be a carrier for a male child to be affected. Female-to-
50% chance of a male child to be affected. transmissio
daughters
50% chance of a female child (with an unaffected
father) to be a carrier. No male-m
transmissio
If father is affected with an unaffected (not carrying)
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