MCB 2400 Lecture Notes - Lecture 9: Alec Jeffreys, Tandem Repeat, Variable Number Tandem Repeat

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Sir Alec Jeffreys
father of DNA figerpritig
o DNA can serve as a unique identifier
Monday September 10th, 1984 eureka
Research:
o Gene evolution in sparrows
o Repetitive sequences in human myoglobin gene
Found:
o Human genome contains many regions of hypervariable DNA
o Can serve as a unique identifier
Two Major Types of DNA Markers: mark sequence as difference from another sequence
Sequence polymorphism:
o Single nucleotide polymorphism, SNP
--------AGACTAGACATT-------
--------AGATTAGGCATT-------
Length polymorphism:
o Short tandem repeat, STR
o Variable number tandem repeat, VNTR hat Jeffres as studig
---------(CAG)(CAG)(CAG)----------
---------(CAG)(CAG)----------
Minisatellite (VNTR) vs. Microsatellite (STR)
PCR primers are designed to target invariant flanking sequence regions
The number of tandem repeat units in the repeat regions varies among individuals making them
useful markers for human identification
Withi seods it as oious that e had stuled upo a DNA-based method not only for biological
idetifiatio, ut also for sortig out fail relatioships. It reall as a etraordiar oet.
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Document Summary

Two major types of dna markers: mark sequence as difference from another sequence: sequence polymorphism, single nucleotide polymorphism, snp. Length polymorphism: short tandem repeat, str, variable number tandem repeat, vntr (cid:894)(cid:449)hat jeffre(cid:455)(cid:859)s (cid:449)as stud(cid:455)i(cid:374)g(cid:895) What do (cid:449)e k(cid:374)o(cid:449) fro(cid:373) jeffre(cid:455)(cid:859)s vnt studies: human genome contains many regions of hypervariable dna (vntr sequences, can serve as a unique identifier, genetic markers that differ between humans = polymorphisms. Pcr (today, much easier: looks at strs, use pcr amplification of specific tetra nucleotide repeat sequences. Allele locus: locus = particular position or location on a chromosome, allele = alternate sequence at a particular locus, homologous pair, same characteristic but different versions of gene or locus. Genotype designations (allele state: aa, homozygous dominant, aa, heterozygous, aa, homozygous recessive, genotypes can represent genes, genotypes can represent alleles for non-protein coding segments for the dna, strs.

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