BIOL10005 Lecture Notes - Lecture 22: Conservation Biology, Zygosity, Population Genetics
29 Jun 2018
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Lecture 22: Population genetics I:
Hardy-Weinberg equilibrium
Measuring variation in a Population
Looking for visible differences in phenotype
Chromosome differences
oi.e. short Y chromosome vs long Y chromosomes
Variants in enzymes
oProtein gel electrophoresis
Immunological markers
oi.e. blood groups
Detecting variation
At the molecular level (forensic analysis) - non-coding region:
SSLPs (simple sequence length polymorphisms) or VNRT (variable number of tandem
repeats)
STR (short tandem repeats)
Single nucleotide polymorphisms (SNP)
oSingle base change
oMay be "silent"
Highly polymorphic
oHandy in identifying people
Variable regions often in noncoding region:
oMulti-locus probe: sequence found in more than one location
oSingle locus probe: sequence in only one location
HapMap
Describes the common patterns of human DNA sequence variation
To be a SNP has to occur in 1% population
About 10 million SNP’s exist in human populations, where the rarer SNP allele has a
frequency of at least 1%
Association with disease: apolipoprotein E and Alzheimers Disease
SNPs (SNIPS)
Can be detected by:
oDNA sequencing
oRestriction cutting sites – the change results in the loss or gain of a restriction
enzyme recognition sequence
Obtaining a sample
oCheek cells or skin cells on a toothbrush
oAlso mouthwash, semen, hair, blood, handprint
Extract DNA
Make multiple copies of DNA using PCR
Run samples on a gel
APPLICATIONS:
IDENTIFICATION
PARENTAGE TESTING Why test?
oParentage disputes over who is the father of the child and is therefore responsible
for support
find more resources at oneclass.com
find more resources at oneclass.com
Document Summary
Chromosome differences o i. e. short y chromosome vs long y chromosomes. At the molecular level (forensic analysis) - non-coding region: Sslps (simple sequence length polymorphisms) or vnrt (variable number of tandem repeats) Highly polymorphic: handy in identifying people. Variable regions often in noncoding region: multi-locus probe: sequence found in more than one location o. Single locus probe: sequence in only one location. Describes the common patterns of human dna sequence variation. To be a snp has to occur in 1% population. About 10 million snp"s exist in human populations, where the rarer snp allele has a frequency of at least 1% Association with disease: apolipoprotein e and alzheimers disease. Can be detected by: dna sequencing o. Restriction cutting sites the change results in the loss or gain of a restriction enzyme recognition sequence. Cheek cells or skin cells on a toothbrush: also mouthwash, semen, hair, blood, handprint. Make multiple copies of dna using pcr.
