Human Genome Flashcards
How many base pairs does a Human Genome have?
Over 3 billion
How many pairs of chromosomes does a human genome have?
23 pairs
How many homologous pairs does a genome have?
22 (sex chromosomes). Females contain 23
What is a karoytype?
A picture of all of the chromosomes arranged in order of decreasing size
How many genes are in an X chromosome?
Over 1400 genes
How many genes are in Y chromosome?
About 158 genes, but many repeat so theirs only 50 or so.
X chromosome
Essential for life does not influence sex; two equal female
Y chromosome
Not needed for life. SRY gene causes an embryo to be a male
Barr Body
Genes that are switched off in one of the X chromosomes. Males have only one X so no Barr body is formed.
Nondisjunction
When homologous chromosomes do not seperate as they should
Nondisjunction in meiosis I
Results in four abnormal cells
Nondisjunction in meosis ii
Two of the cells will be abnormal chromosomes
When a cell has an extra chromosome and is united with a normal gamete
Trisomy
When a cell is missing a chromosome and is united with a normal gamete
Monosomy
Down syndrome
Results in three copies of chromosome 21
Cat Eye syndrome
Three copies of 22
Patau Syndrome
Three copies of 13
Edward Syndrome
Extra chromosome in 18
William syndrome
Monosomy in chromosome 7
Cystic Fibrosis
Results in the deletion of just theee bases. Bases removed a single amino acid causes protein to fold improperly. One copy is no problem because the cystic fibrosis transmembrane conductance regulator (CFTR) allow it to work properly. 2 copies produce a disorder.
Restriction enzyme
Enzyme that cuts DNA at a sequence of nucleotides
Genomic printing
Process in which epigenetic chemical marks can be passed from one generation to the next in a sex-specific way.
Gel electrophoresis
Procedure used to seperate and analyze DNA fragments by placing a mixture of DNA fragments at one end of a porous gel and applying an electric voltage to the gel.
What do restriction enzymes make possible?
They make it possible for scientists to cut, seperate, and copy nucleus acids so scientists are able to read DNA base sequences.