how much of the human genome codes for proteins?
lenght of human genome 3X10^9
common CDS: 3000 NT
what are some ways that a person could obtain heritable dz? (3)
mutations in single genes = single gene disorders
Variation in genes + enviornment = multifactorial dz
Chromosomal imbalances = chromosome disorders
just because you have a mutation, doesn't mean the phenotype will show; environment also plays a role
Name the mutation:
CGA (arg) > TGA (x)
TCT (Ser) > TCA (Ser)
CAT (His) > CCT (Pro)
CGA (arg) > TGA (x) = nonsense
TCT (Ser) > TCA (Ser) = silent
CAT (His) > CCT (Pro) =missense
AGNNN-NNNGT> ACNNNN-NNNGT =splice site
-20T>A =upstream, promoter
TCAGCC> TAGCC =deletion
TCAGCC> TCAACCGCC =insertion
CAGCAG> CAGCAGCAGCAG =repeat
what are some types of chromosome mutations
translocation (could lead to amp or deletion)
dependings on amount - coudl cause a problem in the next generation
IE) (9,22) philadephial chromsome
ABL originally from 9 --> 11 near BCR
--> misregulation of tyrosine kinase, sets up from INC proliferation ie) amp in CM
amplification, via Her2Newu in breast CA
Deletion, cri-du-chat, chromosome 5 pair (missing!)
Complete genome mutations:
What can go wrong in trisomy abnormalities?
what increases the risk?
what are some examples?
Frequency increases with parental age in mother
Trisomy 21/down syndrome,
Trisomy 13/Patau syndrome,
Trisomy of sex chromosomes ie) Klinefelter (XXY)
Monosomy - Turners (XO)
How are cytogenic disorders detected?
Cytogenetics study the structure and function of the chromsomes
FISH to detect chrosomes
Karyotyping (older), will allow you to see both strands and the banding patter allows you to see where the abnl lies
Comparative genomic hybridization CGH analysis (hybridize with 2 geneomes labled with different colors, you could see the lighting up more or less depending its density)
What are different classifications of single gene mutations
Sex linked VS autosomal
Recessive VS dominant
Osteogenesis imperfecta is an inherited disease that affects collagen formation.
What type of Osteogenesis Imperfecta involves haploinsufficiency?
what is haploinsufficiency?
Type 1 with a NULL mutation in pro-collagen alpha-1
Haploinsufficiencey = "not enough" on allele is not enough to compensate the loss of the gene product
Autosomal Dominant Syndrome
sx: long fingers, cachectic,
Familial Hypercholesteroremia (FHA) sx
xandoma of the skin
can't take into cells