Genetics and Genomics A Grade Exam
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Combination of alleles constitutes a ... - ✔✔genotype
phenotype - ✔✔the appearance of a health condition in a person that develops as a result of
how these genes are expressed is termed the PHENOTYPE
mutant phenotype - ✔✔alternative, or more uncommon phenotypes
normal phenotype - ✔✔if a particular phenotype is common in a particular population
wild type - ✔✔An individual whose phenotype is either normal or the most common expression in a
particular population.
dominant allele - ✔✔is an allele whose action masks that of another allele
recessive allele - ✔✔an allele whose expression is masked by a dominant allele
autosomal - ✔✔Pertaining to a chromosome that is not a sex chromosome
An allele that casues a disease can be ... - ✔✔dominant or recessive
modes of inheritance - ✔✔the pattern in which a gene variant passes from generation to generation
, Autosomal dominant - ✔✔Autosomal dominant is one of several ways that a trait or disorder can
be passed down through families.
If a disease is autosomal dominant, it means you only need to get the abnormal gene from one parent in
order for you to inherit the disease. One of the parents may often have the disease.
pedigree - ✔✔is a diagram that depicts family relations and known genotype and phenotypes.
incomplete dominance - ✔✔when one allele is not completely dominant over another
codominant - ✔✔A heterozygote in which both alleles are fully expressed
completely penetrant - ✔✔a disease causing allele and everyone with this genotype has all
the symptoms.
incompletely penetrant - ✔✔a genotype that does not express the associated phenotype
variable expressive - ✔✔a phenotype's intensity of symptoms that vary in different people
pleiotropy - ✔✔family members who have different symptoms.
A single protein found in different parts of the body.
fibrillin disorder - ✔✔Marfan syndrome is caused by changes (mutations) in one member of the pair
of fibrillin genes. As a result, the body produces fibrillin that does not work and connective tissue that
is not as strong as it should be. The growth and development of the body are affected, particularly in
the connective tissues of the aorta, eye and skin. It causes overgrowth of the long bones of the body,
resulting in tall height, long arms and legs, and a weakened structural support in blood vessels, heart
valves, cartilage and ligaments.
multifactoral traits - ✔✔Traits molded by one or more genes plus environment
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