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Human Genetics Vocabulary

AB
germ-cell mutationa change in the DNA of a sex cell
lethal mutationchange in the DNA that causes death
sex-linked traita trait, associated with a gene that is carried by either the male or female parent (eg colorblindness)
sickle cell anemiaa genetic disorder caused by a point mutation that substitutes adenine for thymine in a single DNA codon
somatic mutationa mutation that occurs in a body cell
x-linked genea gene found on the X chromosome
Y-linked genea gene found on the Y chromosome
colorblindnessa recessive X-linked disorder in which an individual cannot distinguish between certain colors
Duchenne muscular dystrophya form of muscular dystrophy that weakens and progressively destroys muscle tissue
hemophiliaa trait in which the blood lacks a protein that is essential for clotting
Huntington's diseasea human genetic disorder caused by a dominant allele resulting in involuntary movements, mental deterioration, and eventual death
multiple allele traitmore than two forms of a gene controlling the expression of a trait
pattern of inheritancerepeated predictable patters of certain phenotypes from one generation to the next when analyzing pedigrees; single allele dominant/recessive, X-linked, polygenic and multiple alleles
pedigreea diagram of the genetic history of an individual; can show how a trait is inherited over several generations
polygeneic traita trait in which the phenotype is controlled by two or more genes at different loci on different chromosomes (eg height)
single-allele traita trait controlled by a single allele
carriersan individual who has one copy of a recessive autosomal allele who usually do not express the recessive allele, but can pass it along to their offspring


Charleroi Area High School

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