Genetics 1 Flashcards
degree (%) to which a trait is expressed among those with gene
Penetrance
gene whose effects are not always seen despite gene presence
Incomplete penetrance
variability (or not) or phenotype for those with gene
Expressivity
Describes a single gene with many traits associated with it
Pleiotropism
Describes when many genes lead to a single trait
Genetic heterogeneity
Structure of hemoglobin
2 alpha and 2 beta globin chains
Chromosome with 2 hemoglobin alpha genes
16
Chromosome with 1 hemoglobin beta gene
11
1:1 ratio of these in hemoglobin structure allow for solubility
1:1 ratio of alpha and beta chains
Mutation in sickle cell anemia occurs in this gene
Chromosome 11 beta-globin gene
Amino acid substitution in sickle cell anemia
Val –> glu
Type of point mutation that occurs in Sickle cell anemia
Missense (amino acid switch)
Does the mutation in the beta globin gene in Sickle Cell Anemia show pleiotropism or genetic heterogeneity?
Pleiotropism
Type of point mutation that occurs in thalassemia
Nonsense
In thalassemia, there is a lack in production of this
Beta-globin
2 mutations that can cause Beta-thalassemia
Nonsense point mutation
Abnormal splicing due to mutation in non-coding regions
Some breast cancers have extra gene copies of this
Her2 gene (product is a growth factor receptor)
The kind of mutation results in extra gene copies of Her2 in breast cancer
Amplification mutation
Entire regions of these two chromosomes are transposed in chronic myeloid leukemia
9 and 22
In chronic myeloid leukemia, this promoter because adjacent to ABL (tyrosine kinase) and acts as a perpetual on switch
BCR
In chronic myeloid leukemia, BCR promoter becomes adjacent to this
Results in unregulated cell proliferation
ABL (a tyrosine kinase)
Type of mutation that occurs in chronic myeloid leukemia
Translocation
(Entire regions of chromosome 9 and 22 are transposed)
Phenomenon involving earlier onset and increasing severity of disease with each generation
Often occurs in diseases involving trinucleotide repeats
Genetic anticipation
Disease caused by an expansion of CTG repeats at the 3’ untranslated region of DMPK gene, a protein kinase
Results in muscle generation with slowed relaxation phase
Myotonic dystrophy
Myotonic dystrophy is broadly caused by this
Expansion of trinucleotide repeats
In myotonic dystrophy, there is an expansion of CTG repeats in this gene
DMPK (protein kinase)
Gain of function changes are usually from this type of inheritance
Autosomal dominant
Presence of an autosomal dominant disorder in a patient with no family history may be due to this
Spontaneous mutation
Gene that encodes polycystin
PKD-1
PKD-1 gene encodes this protein
Polycystin
Cilia-related protein that is responsible for sensing pressure and fluid flow, especially in the kidney
Polycystin
Autosomal dominant polycystin disease involves a loss of function of polycystin due to mutation in this gene
PKD-1
Adenomatous polyposis is caused by a mutation in the adenomatous polyposis coli (APC) gene, and exhibits this inheritance pattern
Autosomal dominant
(although both gene copies must be lost)
Adenomatous polyposis coli (APC) is involved in cellular signaling and this pathway
WNT pathway (promotes cell proliferation –> cancer)
The WNT pathway promotes this
Cell proliferation (leads to cancer, often colon cancer)
a1-Antitrypsin (A1AT) deficiency exhibits this type of inheritance
Autosomal recessive
A1AT protein turns off this activity
Results in inappropriate digestion of patient’s tissue proteins
WBC protease
Wild type A1AT gene
PiM
Non-functional A1AT gene
PiZ
Loss of the wild type gene (PiM) of A1AT results in this
Improper protein folding and loss of activity
Glucose-6-phosphate dehydrogenase deficiency exhibits this inheritance
X-linked recessive
X-linked recessive condition that results in inability to inactive ROS, shortening RBCs lifespan
Glucose-6-phosphate dehydrogenase deficiency
Enzyme defects tend to exhibit this inheritance
Recessive
Term for the presence of two or more cell lineages with different genotypes arising from a single zygote in a single individual
Genetic mosaicism
Cellular organelle involved in breakdown/recycling of macromolecules
lysosomes
Type of lysosomal storage disease resulting from inability to degrade glycosaminoglycans
Mucopolysaccaridoses
Heparan sulfate, chondroitan sulfate, and keratan sulfate are this type of compound
Glycosaminoglycans (GAGs)
This compound gets degraded into GAGs and proteins
Proteoglycans
All mucopolysaccharidoses result in these 2 main symptoms
Coarse facial features and Skeletal dysplasia
X-linked recessive deficiency of iduronate-2-sulfatase
Hunter syndrome