Lecture 5 - 7 Human Genome 1 Flashcards
VNTR copy number is largely unique to an individual, especially when assessing copy number for numerous throughout the genome.
VNTR loci
The human genome can be divided into three classes of sequences:
single copy, moderately repetitive, and ________ repetitive.
Highly
The polymerase chain reaction (PCR) amplifies discreet segments of DNA defined on either side by a _____________. The amplification is done in vitro. The primers can synthesized to represent any desired sequence.
Primer
There is an apparent excess of genomic DNA compared with the amount that could be expected to code for __________.
Protein Coding Genes
Single copy DNA sequences have no characteristic limit on size, and almost every ________ is single-copy DNA. However, not all single-copy DNA codes for a protein or is part of a gene.
Gene
A set of genes descended by duplication and variation from an ancestral gene is called a ________ family.
Gene
Supergene families are composed of partially ___________ genes. Sometimes a relationship can be discerned in the form of a common overall organization among genes whose roles apparently are not related. This occurs as the result of extensive variation from a common ancestor.
Homologous
Gene clusters are composed of homologous genes encoding proteins with closely related ___________. Gene clusters range from extremes where a duplication has generated two adjacent related genes to cases where hundreds of identical genes lie in a tandem array.
Molecular Function/Physical Location
_____________ repetitive DNA sequences, like ribosomal RNA genes and histone genes, meet the need for large amounts of the product encoded by these genes.
Moderately
Telomeric repetitive sequences are found at the ________ of the linear DNA molecule in chromosomes.
___________of chromosomes prevent chromosome degradation and fusion.
Ends
Telomers
___________ are the point on the DNA where the kinetochore forms.
Kinetochores are the part of the chromosome to which the __________fibers (microtubules) attach.
Centromeres
Spindle
The centromeric region of a chromosome is required for proper __________ of chromosomes during __________.
Segregation
Mitosis
a useful starting point for accessing a very large amount of human genome project data, including ________________.
CPS islands and SNPs
Detailed information regarding genetic changes in cancer can be obtained from the
Catalog of Somatic Mutation in Cancer (COSMIC)
A list of patient samples, with associated information regarding the mutations and gene expression for the samples, can be had at the (The cancer genome atlas), which is available through cBioPortal.
cancer genome atlas
