Genes Flashcards

1
Q

Heredity

Population genetics

Molecular genetics

Mendelian genetics

A

study of inheritance

study of a gene pool of an organism over time

study of molecular structure and function of genes

genetic studies on genes that have a strong connection to phenotypes

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2
Q

Gene (1)

Gene (2)

Bivalent

Haploinsufficiency

A

an inherited factor that affects the characteristics of an individual

part of a chromosome involved in the transcription of DNA to RNA

a pair of associated homologous chromosomes held together by a complex in meiosis

when loss of function alleles are dominant (rare)

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3
Q

Incomplete dominance

Co-dominance

Pleiotropy

Epistasis

A

shows intermediate phenotype

heterozygotes, show phenotype of both alleles

one gene may influence more than one trait

interaction between two or more genes that control a single phenotype

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4
Q

Penetrance

Expressivity

Heteromophic

Autosomes

A

percentage of individuals with a given genotype who express the expected phenotype

Measures the extent to which the given phenotype is expressed at phenotypic level

sex chromosomes/cells

non-sex chromosomes/cells

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5
Q

Aneuploidy

Hemizygous

Physical gene maps

Cytogenetic gene maps

A

abnormal no. of chromosomes e.g XXY

only have one version of a gene e.g men only have one version of genes on the X chromosome

show distances between genes based on direct measurement

indicate gene positions with respect to cytogenetic markers (ones with banding patterns)

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6
Q

Linkage gene maps

Interference (+/-)

Autosomal recessive inheritance

Autosomal dominant inheritance

A

show relative position of genes based on frequency of crossing-over between genes during meiosis (more=further away)

crossover events influencing probability of crossover events close by

skips generations, both parents have to be carriers, affects m/f equally

in every generation, affects m/f equally, sometimes homozygous mutant is lethal

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7
Q

X-linked recessive inheritance

X-linked dominant inheritance

STR’s

SNP’s

A

more males affected

no male to male inheritance, m/f affected equally, can be difficult to distinguish from autosomal dominant

short tandem repeats of DNA sequence used for DNA markers /DNA profiling

single base difference every 1000 nucleotides

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8
Q

Haplotype

Nullisomy

Monosomy

Trisomy

A

particular combination of SNP’s in a small region of chromosome

loss of a pair of homologous chromosomes

loss of a single chromosome

one extra chromosome

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9
Q

Tetrasomy

Disjunction

Non-disjunction

Karyotype

A

an extra pair of chromosomes

normal separation of homologous chromosomes to opposite poles during anaphase 1 of meiosis

can lead to both chromosomes at one side of the cell, causing aneuploidy

normal no. of chromosomes

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10
Q

Heteroplasmy

Homologs

Paralogs

Orthologs

A

more than one type of mitochondrial DNA within a cell

same organs in diff. animals under every variety of form and function

when a genes last common ancestor/variation in two different species was due to a gene duplication event

when a genes last common ancestor in two different species was due to speciation

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