T5M1 Flashcards
Primary goal of genome sequence projects
map out each chromosome with high resolution so underlying DNA sequences can be determined
DNA polymorphisms
one of two or more alternative forms (alleles) at a chromosomal region (locus) that differs in either a single nucleotide base or have variable numbers of tandem nucleotide repeats in a given population
DNA polymorphisms reside
mostly in non-coding regions of DNA
DNA polymorphisms are useful because they allow for
assembly of high-density genetic maps/DNA markers
DNA markers are detectable using
microarray analysis, PCR and Southern blot, or even DNA sequencing
DNA markers are useful for
identify individuals and show relatedness such as in DNA fingerprinting
One of the most common types of genetic variation
SNP’s
SNPs are often found
scattered throughout the genome and can be found in both noncoding and coding regions
Technique that is employed to detect SNP genotypes
DNA microarray analysis
Analyzing SNPs using DNA microarray analysis is done by
- oligonucleotides that match the common allele and all possible variant SNP alleles are attached to the glass on the microarray chip
- To detect SNPs, millions of short, single stranded oligonucleotides of known sequence (and which contain a nucleotide base in the middle which is complementary to the SNP allele) are attached to the chip
VNTR’s
variations in short sequences of DNA that are repeated in tandem
Variable number of tandem repeats can be identified utilizing
PCR and gel electrophoresis analysis
The detection of VNTRs with variable lengths can be largely used by researchers to assist in the identification of
individuals based on their respective DNA profiles
DNA fingerprinting utilizes variable number of tandem repeats because
while VNTR locations (or loci) are very similar between closely related individuals, they are also variable enough that it is extremely unlikely that any unrelated individuals would have the same VNTRs
The HbS (sickle cell) mutation
single nucleotide polymorphism that has occurred in the protein coding sequence of the beta-hemoglobin gene