gentics 3

Metacentric

Normal chromosome

Submetacentric

Short p arm on chromosome

Afrocentric

Short p arms with satellites

Telocentric

No p arm

5q2.3.1

Chromosome #

Arm of chromosome

Section on q arm

Section sitting section

Band

Aneuploidy

Abnormal number is chromosomes

Monoatomic

Missing chromosome

2n-1

A BB CC

AA B CC

AA BB C

Trisomic

Extra single chromosome

2n+1

AAA BB CC

AA BBB CC

AA BB CCC

Euploidy

Abnormal number of haploid set

Monoploid

N

ABC

Diploid

2n

AA BB CC

Triploid

3n

AAA BBB CCC

Tetraploid

4n

AAAA BBBB CCCC

Meiosis I nondisjunction

No normal zygotes

50% ~ 2n + 1 trisomic

50% ~ 2n - 1 monosomic

Meiosis II nondisjunction

Homologous chromatids separate

Fail to separate sister chromotids

50% ~ 2n diploid

25% ~ 2n + 1 trisomic

25% ~ 2n - 1 monosomic

Down syndrome

Trisomy 21

Klinefelter syndrome

XXY

Jacob syndrome

XYY

Triple X syndrome

XXX

Turner syndrome

X_

Prayer-Willi & Angelman syndrome

Uniparental disomy

Chromosome 15

Paracentric

Lead to deletion on products

Paricentric

Deletion/duplication of products

Scaffold L50 Scaffold N50

Low L50 (rank)

high N50 (length)

Pseudogene

Gene lost of function due to harmful mutation

Subfunctionalization

Gene performs two functions between og and duplicated gene

Neofunctionalizarion

Copy of gene results in a gene with new function

Polyploidy

Every gene in genome is duplicated

Copy-number variants

Duplications of segments greater than 1 kilobase result in unequal crossing over

Homoplasmic

Cells have organelles with game genotype

Heteroplasmic

Cells contain mixture of alleles