chromosomes and inheritance chapter 12 231 241 l.
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Chromosomes and Inheritance Chapter 12 (231-241) Telomeres p arm q arm Telomeres Parts of Chromosomes Telomeres Centromeres Locus Picture of chromosomes Homologous chromosomes contain the same genes

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parts of chromosomes

Telomeres

p arm

q arm

Telomeres

Parts of Chromosomes
  • Telomeres
  • Centromeres
  • Locus
slide3

Picture of chromosomes

  • Homologous chromosomes contain the same genes
  • Often arranged with autosomes (found in both sexes) in descending order and sex chromosomes separate

Karyotype

slide4

X-Linked Inheritance

Color blindness(X-linked recessive)

Hemophilia (X-linked recessive)

slide5

Autosomal Recessive Disorders

Sickle-Cell Anemia

Red blood cells take on a curved shape

Clot in the capillaries

Decreased oxygen supply to brain & muscles

Werner Syndrome Premature aging

Begins during adolescence

Mapped to chromosome 8

slide6

Autosomal Dominant Disorders

Polydactyly Extra fingers or toes

Achondroplasia Growth related defect

Cartilage growth in the long bones is slow

Results in short stature

slide7

Retinitis Pigmentosa

X-linked recessive, Autosomal dominant or Autosomal recessive

Eye diseases that affect the retina

Degeneration of cones and rods in the eye

Loss peripheral vision

slide8

Pedigree Analysis

Diagrams of family history

Used to determine if a disease or condition is dominant, recessive, or X-linked

Use symbols to represent individuals

slide11

Polyploidy

The addition of one or more sets of chromosomes to a genome

Malfunction in meiosis

Egg or sperm end up with two sets of chromosomes

Detrimental in humans

Preferred in some plant species

slide12

Aneuploidy

One chromosome too many or missing one chromosome

Common in humans

Common in miscarriages

Ex. Down syndrome

Result of nondisjunction

trisomy
Trisomy

Zygote ends up with 3 chromosomes instead of 2 for a given pair of chromosome.

down syndrome trisomy 21
Down Syndrome (Trisomy 21)
  • 1 in 800-1,000 births
  • Large tongue
  • Flat face
  • Single crease across palm
  • Slanted eyes
  • Mental retardation -Some are not
  • Increased risk for congenital hear defects and leukemia
edward syndrome trisomy 18
Edward Syndrome (Trisomy 18)
  • 1 in 3,000 births
  • Affects more girls than boys
  • Heart defects
  • Displaced liver
  • Clenched hands
  • Low-set ears
  • Severe retardation
  • 98% abort
  • Lifespan < 1 year
patau syndrome trisomy 13
Patau Syndrome (Trisomy 13)
  • 1 in 10,000 births
  • Cleft lip and palate
  • Small eyes
  • Extra fingers & toes
    • polydactylism
  • Defects
    • Heart
    • Brain
    • Kidney
  • Most abort
  • Live span < 1 month
klinefelter syndrome
Klinefelter Syndrome
  • 1 in 500-1,000 births
  • Breast development
  • Small testes
  • Sterile
  • Autoimmune disorders
  • Low intelligence
    • Not retarded
turner syndrome
Turner Syndrome
  • 1 in 2,500 births
  • Short
  • Not go through puberty
  • Webbed neck
  • Dropping eyelids
  • Produce little estrogen
  • Sterile
  • Increased risk for obesity, cataracts, arthritis, scoliosis
slide22

Aberrations within chromosomes

Deletions: Ex. Cri-du-chat syndrome

Inversions: Ex. Acute Myeloid Leukemia

Translocations:

Duplications:

deletion
Deletion
  • Part of a chromosome is deleted
cat cry syndrome
Cat Cry Syndrome
  • Deletion on chromosome 5

Prader-Willi Syndrome

  • Deletion on chromosome 15
inversion of chromosome 16
Inversion of Chromosome 16
  • Inversion between chromosome 13 and 22
  • Acute myeloid leukemia
translocation
Translocation
  • Part of a chromosome attaches to a nonhomologous chromosome
translocation of between chromosomes 1 and 3
Translocation of Between Chromosomes 1 and 3
  • Part of chromosome 3 attached to chromosome 1
  • Acute myeloid leukemia
chromosome 10q duplication syndrome
Chromosome 10q duplication syndrome
  • Mental retardation
  • Defects in many organs
    • Heart
    • Kidneys
    • Bones
    • Muscles
  • Life span less than 1 year