Basics Of Genetics Flashcards
Give 2 examples where genes can give diff responses to drugs
Herceptin- 30% cancer overexpression of her2 gene
Cytochrome p450 controls metabolism of drugs ie codiene
what the benefit of not having a ccr5 receptor?
You’re immune to infection by hiv1, mainly white ppl Europeans
CONSPIRACY THEORY
How do we analyse karyotypes
Size
G banding
Location of centromere- metacentric, submetacentric , Afrocentric
What determines maleness?
Sry is a gene that acts on testis
Trisomy 18 is known as…
Edwards
Intestinal hernia
Kidney malformation
Trisomy 13 is known as…
Patau
Small missing eyes
130 day survival
Trisomy 21 is known as…
Down syndrome
Simian crease
What are the 3 abnormal sex chromosomes
XXy klineflter
Xyy supermale, asymptomatic
X turners syndrome amenorrohea, infertile, short
Autosomal recessive disorder?
Cystic fibrosis- cftr gene on chromosome 7
Lacks 508th codon … incorrect folding, no cl- channels made, build up of mucus
Autosomal dominant disorder?
Huntington’s disease
36 repeats of cag, aggregation of protein
X linked recessive disorder?
Haemophilia a
Factor 8 on X chromosome
All daughters are carriers
X linked dominant disorder?
Vitamin d resistant rickets
