Patho Unit 1

• compose DNA
• phosphoric acid, deoxyribose (5 carbon sugar), one of 4 nitrogen bases

• pyrimidine bases- thymine & cytosine
• purine bases- adenine & guanine

• all cells other than gametes
• 23 pairs chromosomes

coiled structure of DNA

complex of DNA with histone

triplet code for transmitting protein synthesis

thyamine in DNA replaced by uracil in RNA

signal end of protein molecule

recognize DNA distortions & remove

• variation on gene sequence
• human variation <0.1%

• inherited from mother
• 37 genes (24 for translation & 13 for oxidative metabolism)

carries instruction for protein synthesis from DNA into cytoplasm

reads instructions & delivers amino acids to ribosome

translates instructions & provides machinery for protein synthesis

area in DNA where RNA synthesis begins

proteins that fold proteins into forms that can be transported to site to carry out function

• incorrectly folded proteins (failure of chaperoning mechanism)
• stick together & form inclusion bodies

degree to which gene is active

process where gene expression is increased

regulatory gene acts to reduce or prevent gene expression

proteins used to initiate & regulate transcription

maternal & paternal chromosomes

22 chromosomes that are alike in both males & females

inactive chromatin mass from inactive x chromosome

• non-germ cells
• replace cells that have limited life span

• replicates germ cells
• only once in cell line

• interchange of chromatid segments
• new combinations of genes

study of structure & characteristics of chromosomes

• area where chromosome comes together
• metacentric- center
• submetacentric- arms different lenght
• acrocentric- near one end

• special sequences at end of DNA
• allow end of molecule to be replicated completely

genetic information stored in base triplet code

recognizable traits, physical or biochemical, associated with specific genotype

manner that gene is expressed in phenotype

ability of gene to express function

position of gene on chromosome

alternate form of gene at same locus

multiple genes at different loci with each gene exerting small additive effect on determining a trait

• multiple alleles affect outcome
• can be influenced by environments effects

one gene masks phenotypic effects of nonallele gene

more than one allele affect same trait

each gene mutually dependent on the other

2 different genes influence same trait interact to produce phenotype neither could do alone

parental genomes do not always contribute equally to development

graphic method for tracing family history of inherited trait

the closer together genes are on chromosome the more likely they will appear together and not affected by crossing over

• fusion of human somatic cells with a different species to yeild chromosomes of both
• obtain cells w/ different partial combinations of human chromosomes

• use of specific sequences of DNA or RNA to locate genes that do not express themselves in cell culture
• chemicaly tagged sequences used as probes to detect gene location

sites in DNA sequence where individuals differ at a single base

combination of DNA molecules not found together in nature

cutting DNA apart, modifying & reassembling fragments, and reproducing copies

• small pieces of RNA suppress gene expression
• use RNA to stop genes from making disease