Created by Joanna Elliott
almost 11 years ago
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Genotype
Locus
Phenotype
Germ cells
Haploid
Different forms of the same gene may encode different forms of the same protein: True of False
Malformation
Dismorphology
Congential
In disease pedigrees which symbol represents a diseased person
In disease pedigrees which symbol represents a female
In disease pedigrees which symbol represents a male
In disease pedigrees which symbol represents a carrier
In disease pedigrees which symbol represents a deceased person
In disease pedigrees which symbol represents closely related people
In disease pedigrees which symbol represents a miscarriage
In disease pedigrees which symbol represents a termination
In disease pedigrees which symbol represents a stillbirth
In disease pedigrees which symbol represents an adopted person
What is Mendel's first law of inheritance
What is Mendel's second law of inheritance
What is Mendel's third law of inheritance
Monogenic (single gene) disorders (Mendelian)
What are the 3 characteristic pedigree patterns for monogenic disorders
Autosomal recessive inheritance
What needs to be considered in autosomal recessive inheritance
Autosomal Dominant inheritance
In autosomal disorders what is: Penetrance
In autosomal disorders what is: Expressivity
In autosomal disorders what is: Anticipiation
Somatic mosaicism
Germline mosaicism
Sex linked disorders
What are males described as being, in regard to sex chromosomes
Genes on the Y chromosome can be transmitted to both Y and X chromosomes: True or False.
All sons of a father with a Y linked disease Will get the disease. True or False.
The Y chromosome is rich in genes: True or False
What are most Y liked defects associated with
Recessive X linked inheritance
The father with an X linked recessive disease will pass the disease on to both his sons and daughters: True or False
Dominant X linked inheritance
Rett syndrome
Genomic imprinting
When do genetically imprinted genes cause disease
Uniparental disomy
Physical basis of mutations: Nucleotide substitution
Physical basis of mutations: Nucleotide deletion/insertion
Copy Number Variation
What are copy number variation disorders known as
Hereditary haemochromatosis
Hereditary haemochromatosis diagnosis
What would you used to detect a known mutation without DNA sequencing
What can cytogenic karyotype analysis be used to look for
FISH analysis
DiGeorge syndrome
Molecular diagnosis of DiGeorge syndrome
a-CGH