Autosomal Inheritance Flashcards
Autosomal dominant is expressed even in __________
Heterozygotes
FGFR3 mutations are leading to the autosomal dominant diseases -
Achondroplasia
Mutation in the gene for Fibrillin leads to the autosomal dominant disease -
Marfan Syndrome
Pleiotropy -
One Gene yields many Phenotypes
What cytokines are associated with Heart related Marfan syndrome defects?
TGF-Beta
Name the Autosomal dominant inherited mutation that in Homozygote form cause heart attack at the age of 8? What are the mutated genes?
Familial Hypercholesterolemia
LDLR or ApoB
What is the name of the autosomal dominant genetic disease characterized by blue sclera, brittle bones and deafness? What is the name of the genetic phenomena that manifests in this disease?
Osteogenesis Imprefecta
Pleiotropy - One gene many phenotypes
What is the name of the Autosomal Dominant disease that causes Neuro-degeneration, Originated 400 years ago in Venezuela and causes Anticipation?
What is Anticipation?
Huntington Disease
Anticipation is the worsening of the symptoms over generations
What is the triplets that are common in the Huntington Mutation? What is its significance?
CAG
Number of the repeats increases over generations and more severe symptoms appear - Anticipation
In which gender risk of non-disjunction rises with age? What is its consequence?
Female
Changes in chromosomal number
In which gender the risk in replication errors rises with age?
Male
Point Mutations
What is the amino acid over expressed in Huntington? Why it is crucial ?
Glutamate
Neuroactivity
What kind of autosomal inherited diseases are expressed only in the homozygote form?
Autosomal Recessive
What is Consanguinity? Why is posing a risk?
Marriage between relatives
Autosomal Recessive diseases will appear in homozygous form
Which kinds of autosomal diseases show horizontal and vertical pedigree patterns?
Vertical Pedigree Pattern - Autosomal Dominant
Horizontal Pedigree Pattern - Autosomal Recessive
What is the name of the autosomal recessive disease that involve problems in the Phe Hydroxylase?
PKU
What is the name of the autosomal recessive disease that involves problem in the conversion of Tyrosine to Melanin?
Albinism
What is the name of the autosomal recessive disease that involves problem in the conversion of Tyrosine to Thyroxine?
Cretinism
What is the common mutation site for the AR deafness ?
Connexin 26 (of Gap Junction)
What is the most common mutation in the Caucasian population that is AR and involves mostly the Lungs, Pancreas and causes Male Infertility?
Cystic Fibrosis
What is the conventional treatment for CF?
Chest percussion in a lung mucus removal position
CFTR gene mutations are the able to cause CF disease but _________________
Other genes and Environmental factors are also involved.
Why is there male infertility in CF disease?
95% of males have absence of Vas Deferens
What is an Oligogenic Disorders? Give examples
Several Genes leading to the same disorder - Locus Heterogeneity
Like in CF, Bardet-Biedl and age dependent macular degeneration.
Sickle cell anemia and Thalassemia - Malaria
Cystic Fibrosis - Cholera
Tay-Sachs - TB
These pairs are examples for -
Heterozygous Advantage: Selection of Monogenic Disorders -
Examples for disease and disease protected from
Leptin receptor mutation causes ______ .
What is the frequency of this monogenic disorder?
Obesity
Extremely Rare
Malignant Hyperthermia - Strong contractions and Heat production by Sk.Muscles
What evokes the response?What is the mutation?
Anesthetics causes the RyR that is mutated to elevated the Ca in the cells
Acute Intermittent porphyria - What does the Accumulation of Porphyrin cause? What is the trigger from outside the body?
Steroids, drugs, alcohol and starvation (dietary factors) will invoke the convolutions and hallucination.
Variegate Porphyria - What is the invoking trigger? What is the outcome?
Light sensitivity and hallucinations are triggered by dietary factors.
What are Paralogues?
Duplications of the same ancestral gene. Has other function than the original gene.
Which phenomena cannot appear in AR inheritance?
a. Pleiotropy
b. Complementation
c. Variable expressivity
d. Complex heterozygote
e. All of them
e. All of them
