Human Disease Ch3

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1

gene

segments of dna chains that determine cell properties

exist as alleles and occupy specific site on a chromosome

basic unit of inheritance

encode proteins

2

homozygous pairs

both alleles are the same RR/rr

3

heterozygous pairs

alleles are diferent Rr

4

chromosomes

exist in pairs, one from paternal one from maternal

23 total pairs 22 auto 1 sex

5

autosomes

22 pairs in humans

6

sex chromosomes

determine gender

7

genome

sum total of all genes in a cell's chromosomes

8

human genome project

international collaboration of scientists to map nucleotide sequence of entire human genome by determining the specific location of individual gens

9

genomics

study of gene structure to correlate gene structure to expression in individual

10

single nucleotide polymorphisms (SNPS)

structural variations in single gene nucleotides of different individuals 10million in human genome

11

mitosis

process of all somatic cells

no reduction of DNA

46 chromosomes are split

each new daughter cell receives identical DNA as in the parent cell

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meiosis

germ cells (sperm/egg) division

intermixing of genetic material between homologous chromosomes, DNA reduced to half

left with 23 total chromosomes

13

gametogenesis

process of forming gametes (sperm and eggs)

14

spermatogenesis

4 sperm from each germ cell

starts at puberty continues for entierty of life

15

oogenesis

1 ovum formed from each precursor cell

oocytes not produced continuously like sperm are

oocytes formed before birth

16

trisomy 21

down syndrome

17

karotype

study composition and abnormalities in chromosomes in terms of number and structure

cells are stopped during metaphase in order to study them via chromosome smear

18

epigenetics

all heritable changes in gene expression and chromatin organization that are independent of the dna sequence itself

can switch genes on or off

DNA isn't different, what genes are switched off or on is what is different

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epigenetics mechanism

DNA methylation

adds methyl group to cytosine that is locate next to a guanine

this silences the gene

20

gene imprinting

type of epigenetics

21

mitochondrial genes

maternal inheritance

has its own dna

hereditary disease resulting from mitochondrial dna mutations are inherited differently-are maternally transmitted

22

histocompatability complex

what determines if a transplant organ will be accepted by recipient