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Mendelian Genetics & Human Genetics
n/a
51
Biology
Undergraduate 1
11/15/2011

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Term
define genetics?
Definition
study of patterns of inheritance
Term
define inheretence?
Definition
process by which traits are passed from parents to offspring
Term
define locus
Definition
particular location of a gene on a chromosome (plural – loci)
Term
what are alleles?
Definition
alternative forms of a gene
Term
what is the effect of a dominate gene on a recessive one?
Definition
it masks the recessive trait
Term
what is a homozygous dominant (homozygote)?
Definition
cell that has 2 dominant alleles (AA)
Term
what is a homozygous recessive?
Definition
– cell that has 2 recessive alleles (aa)
Term
what is a heterozygous (heterozygote)?
Definition
– cell that has 2 different alleles (Aa) “hybrid”
Term
what is a phenotype?
Definition
– observable or expressed traits (i.e., hair/eye/skin color, blood type)
Term
what is a genotype?
Definition
– the genetic “make-up”
Term
what are the 3 types of crosses performed by Mendel
Definition
- monohybird
- dihybrid
- testcross
Term
in regards to pollination, what made Mendel's garden peas a good organism for studying?
Definition
self-pollinating
Term
in regards to offspring production, what made Mendel's garden peas a good organism for studying?
Definition
produce several “offspring” in a short period of time
Term
in terms of record keeping and observations, what made Mendel's garden peas a good organism for studying?
Definition
easy to keep records and observations
Term
in terms of number of traits, what made Mendel's garden peas a good organism for studying?
Definition
there were only two forms of every trait
Term
what is a gene pair?
Definition
2 genes at homologous loci
Term
what is a monohybrid cross?
Definition
crossing 2 individuals from the F1 generation to get the F2 generation
Term
what is segregation?
Definition
the separation of gametes when they form
Term
what is independent assortment?
Definition
separation of gametes happens independently of others
Term
what is a testcross?
Definition
Crossing an organism with a dominant phenotype with an organism with homozygous recessive phenotype
Term
what is a dihybrid cross?
Definition
a cross between F1 offspring of two individuals that differ in two traits
Term
what are the 5 exceptions to Mendelian genetics?
Definition
- INCOMPLETE DOMINANCE
- CODOMINANCE
- MULTIPLE ALLELES
- EPISTASIS
- PLEIOTROPY
- POLYGENIC INHERITANCE (ALSO CALLED CONTINUOUS VARIATION)
Term
what is the result of incomplete dominance?
Definition
blended (intermediate) effect
Term
what kind of alleles are present in incomplete dominance?
Definition
two different recessive alleles
Term
what is the result of codominace?
Definition
the expression of both phenotypes
Term
what is the genotype for codominance?
Definition
two different alleles that are dominant (i.e., RW)
Term
what is the result of multiple alleles?
Definition
more than two alleles that code for a particular trait (ABO blood type scheme)
Term
describe epistasis
Definition
One pair of alleles (genes) at one locus may control the expression of another gene pair at a different locus.
Term
what does epistasis usually involve?
Definition
pigment production
Term
what happens with pleiotropy?
Definition
one pair of genes affects more than one phenotype
Term
what is the condition involving pleiotropy that affects the color of skin, hair, and eyes?
Definition
albinism
Term
what is polygenic inheritance (continous variation)?
Definition
more than one pair of genes codes for a trait
Term
what are the two premises of the Theory of Heredity?
Definition
1) chromosome number is halved during meiosis
2) chromosome number is restored when sperm fertilizes egg
Term
what are autosomes?
Definition
chromosomes that are the same regardless of gender
Term
is the Y chromosome large or small?
Definition
Small
Term
Does the Y chromosome carry small or large amount of genes?
Definition
small
Term
what is the main characteristic of the Y chromosome?
Definition
"sex-determining" gene
Term
Does the X chromosome carry a large or small amount of genes?
Definition
Large
Term
Are most of the genes on the X chromosomes associated with sex characteristics?
Definition
No
Term
what makes a gene "sex-linked"?
Definition
it is located to a X or Y chromosome
Term
what is Linkage?
Definition
tendency of genes located on the same chromosome to end up in the same gamete
Term
what are the 2 characteristics of autosomal recessive inheritance?
Definition
1) recessive allele is carried on an autosome
2) heterozygotes (Aa) are not affected
Term
what are 4 examples of disorders as a result of autosomal recessive inheritance?
Definition
1) Sickle Cell Anemia
2) Tay-Sachs
3) Cystic Fibrosis
4) Phenylketonuria (PKU)
Term
what are the 2 characteristics of autosomal dominant inheritance?
Definition
1) dominant allele causes disorder
2) less common
Term
what are 5 examples of disorders caused by autosomal dominant inheritance?
Definition
1) Achondroplasia
2) Huntington’s
3) Marfan’s syndrome
4) Polydactylism – more than 5 fingers and toes
5) Brachydactylism – small fingers
Term
What are the 2 characteristics of x-linked recessive inheritance?
Definition
1) affected gene occurs on X (not Y) chromosome
2) heterozygous females are normal phenotypically
Term
4 examples of x-linked recessive inheritance disorders?
Definition
1) Red-green colorblindness
2) Duchenne muscular dystrophy
3) Hemophilia
4) ALD (adrenoleukodystrophy)
Term
what are sex-influenced genes?
Definition
genes that are influenced by sex hormones
Term
2 examples if sex-influenced genes?
Definition
1) male-pattern baldness
2) milk production
Term
What do all genetic disorders have in common?
Definition
they ultimately affect proteins
Term
what is the difference between genetic and chromosomal disorders?
Definition
Chromosomal disorders can be detected by karyotyping
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