Biology 1202B Lecture Notes - Phenotype, Genetic Testing, Genetic Disorder

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8 Apr 2013
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23 and Me
What Can we see in our population?
17% of us are left handed
17% of us have a family history of Multiple Sclerosis
19% of us have a family history of Alzheimer’s Disease
29% of us have a family history of diabetes
56% of us have family history of male pattern baldness
41% of us have a family history of migraines
44% of us have attached earlobes
88% of us have wet earwax
67% of us have a family history of cancer
13% of us have restless leg syndrome
14% of us have perfect pitch
22% of us are lactose intolerant
All of us can smell the asparagus odor in our urine
None of us are world class sprinters
All of us have 23 pairs of chromosomes
In 1956 identified there were 46 chromosomes in a human cell
Homologous chromosomes have same Giemsa binding patterns
New life begins at conception when gametes from maternal egg and paternal
sperm join to create a unique human with 46 chromosomes.
46 chromosomes contain 6 billion nucleotides
23 and Me
Privately held Californian company
Personal Genomics and Biotechnology company
Cofounders: Linda Avey and Anne Wojceicki
Wanted to be leaders in understanding human genomic variation
Private Californian company
o CLIA certified lab
o Developed and offer their test as a service
o Do not sell their kit
Spit kit $300 and questionnaires
DNA microarray
o Simultaneous analysis of 960,000 SNPs
SNPs = Single Nucleotide Polymorphism
SNPs are studied because they have been identified with:
120 disease risks (Alzheimer’s, schizophrenia, Breast or colon cancer)
48 carrier status (Cystic fibrosis, hemacromotis)
57 traits (eye colour, ear wax)
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