FINAL REVIEW!!! CH.14

Created by Lucile13 

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sex chromosome

one of the pair of chromosomes that determine the sex of an individual.

autosome

chromosome that is not a sex chromosome.

karyotype

A picture of all the chromosomes in a cell arranged in pairs.

pedigree

a diagram that shows the occurrence of a genetic trait in several generations of a family.

sex-linked gene

gene located on the X or Y chromosome.

sex-linked traits

traits that are dominant or recessive depending on gender, disorder pertinent to gender, ie females cant be colorblind..traits can only be carried or present on X or female gene.

Both chromosomes on chromosomes 1-22.

What does it mean to say a disorder is autosomal recessive?

46

How many chromosomes do humans have?

homolgous pairs

The chromosomes are paired up in ________________________________.

mutation

A change in DNA.

missed errors during replication.

Mutations happen naturally-Occasional ____________________________.

transposons

Sections of the DNA that can jump to other regions along the strand.

radiation or chemicals

Mutations can also occur from exposure to _________________ __ ___________.

disorders

Mutations can lead to more variation in organisms but can also lead to ______.

Autosomal Dominant

Achondroplasia; CdLS`

Autosomal Recessive

Albinism; cystic fibrosis

X-linked Dominant

Huntington's Disease

X-linked Recessive

Duchenne Muscular Dystrophy; Hemophilia; Colorblindness

Down Syndrome

3 copies of chromosome 21

Patau Syndrom

3 copies of chromosome 13

Edwards Syndrome

3 copies of chromosome 18

Triple X syndrome

3 copies of X chromosome

Kleinfelter's Syndrome

1 Y and 2 X

Turner Sydrome

Only 1 X 45 chromosomes

Cri du Chat

Part of chromosome 5 missing.

Human Genome Project

-Started in 1990
-Scientists tried to discover the entire Human DNA Sequence.

silent mutation

A mutation that changes a single nucleotide, but does not change the amino acid created.

gene mutations

changes in genetic code

chromosome mutation

change in chromosomes

Point mutation

change occurs at one point in the gene.
A base are switched with another base, A instead of C

substitution mutation

Mutation in which a single base is replaced, potentially altering the gene product. Only one amino acid affected.

Frameshift mutation

When a base is inserted into sequence or deleted from sequence. Since the gene is read in 3s this causes shift in the reading frame-the entire gene following the mutation is read incorrectly.

insertion

mutation in DNA sequence in which a nucleotide is added (causes a shift in reading frame).

deletion (gene level)

mutation in DNA in which a nucleotide is removed (causs a shift in reading frame).

chromosomal mutation

mutation that occurs at the chromosomal level resulting in changes in the gene distribution to gametes during meiosis; caused when parts of chromosomes break off or rejoin incorrectly-can interfere with many different genes.

duplication

mutation in which extra parts of a chromosome are produced and repeated.

inversion

mutation in whick parts of a chromosome are reversed.

translocation

the movement of a segment of DNA from one chromosome to another, which results in a change in the position of the segment.

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