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Chapter 12 - Quiz 5
Human Genetics
33
Science
10th Grade
06/14/2008

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Term
Aneuploidy
Definition
Condition with one or more chromosomes too many or too few.
Term
Polyploidy
Definition
Individual or cell having more than TWO SETS of chromosomes (eg. 3n,4n)
Term
Huntington's Chorea
Definition
Dominant genetic disease (chrom. #4); late onset with loss of motor/mental
Term
Klinefelter's Syndrome
Definition
Male with extra X chromosome (XXY); 2n + 1 = 47 chromosomes
Term
Criminal Syndrome
Definition
Trisomic 23 with XYY genotype (47 chromosomes; "aggressive")
Term
Colorblindness
Definition
X-linked trait; inability to distinguish certain colors
Term
Autosomes
Definition
All chromosomes other than the sex pair (22 pairs = 44 chromosomes)
Term
2n + 1
Definition
Algebraic expression for TRISOMIC condition (47 chromosomes)
Term
2n - 1
Definition
Algebraic expression for MONOSOMIC condition (45 chromosomes)
Term
Sex Chromosomes
Definition
Heteromorphic chromosome pair; determines SEX
Term
Inbreeding
Definition
Mating of genetic RELATED individuals (consanguineous marriage)
Term
Pedigree
Definition
Family tree; traces a trait through many generations
Term
Carrier
Definition
Heterozygous individual w/ one copy of a recessive allele (eg. Aa)
Term
Polygenic
Definition
Control of a single PHENOTYPE by many genes (eg. Skin, height)
Term
Multiple Alleles
Definition
More than two alleles at a locus control a trait (eg. ABO blood type)
Term
Down Syndrome
Definition
Trisomy 21; causes severe mental retardation
Term
Metafemale
Definition
Trisomic 23 with XXX genotype (once called "super" female)
Term
Turner Syndrome
Definition
Monosomic 23 (2n-1); sterile female missing an X chromosome
Term
Deletion
Definition
Loss of a segment of gene or chromosome (eg. 5p = Cri-du-Chat)
Term
Sickle Cell Anemia
Definition
Recessive disease (African Americans') RBC's change to curved shape
Term
Duplication
Definition
A nucleotide sequence is REPEATED (doubling the gene)
Term
Translocation
Definition
Mutation; part of chrom. relocates to another non-homologous chrom.
Term
Cystic Fibrosis
Definition
Most common Caucasian genetic disease (1/25 w/ rec. allele); thick mucus
Term
Oncogene
Definition
CANCER causing gene; formed from specific MUTATIONS
Term
Transposons
Definition
Jumping genes move from one chromosome to another (disrupt functions)
Term
Polydactyly
Definition
Dominant genetic condition causing EXTRA FINGERS or toes
Term
Inversion
Definition
Mutation; replacement of chromosome section in REVERSE
Term
Tay Sachs
Definition
Fat deposits buildup in neurons of brain (Jewish pop.); death <3-5 yrs
Term
Hemophilia
Definition
X-linked recessive disease; inability of blood to clot (boys)
Term
Alzheimers
Definition
Form of progressive SENILE DEMENTIA (21st chromosome); late onset)
Term
Nondisjunction
Definition
Failure of a homologous chromosome pair to separate at Meiosis I or II
Term
Albinism
Definition
Absence of normal pigmentation (melanine) in skin, hair, eyes
Term
PKU
Definition
Inability to metabolize PHENYLALANINE (-> mental retardation)
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