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Deoxyribose
Phosphate molecule
Four nitrogenous bases:
Pyrimidines: cytosine and thymine
Purines: adenine and guanine
Double helix model
Nucleotide
Spontaneous mutation
Mutation that occurs in absence of exposure to
known mutagens
Mutational hot spots
Areas of the chromosomes that have high
mutation rates
Somatic cells
Contain 46 chromosomes (23 pairs)
Diploid cells
Gametes
Contain 23 chromosomes
Haploid cells
• One member of each chromosome pair
Meiosis
Formation of haploid cells from diploid cells
Mitosis
Formation of somatic cells
Autosomes
The first 22 of the 23 pairs of chromosomes in
males and females
The two members are virtually identical and thus
said to be homologous
Sex chromosomes
Remaining pair of chromosomes
• In females, it is a homologous pair (XX)
• In males, it is a nonhomologous pair (XY)
Karyotype (karyogram)
Aneuploidy
A somatic cell that does not contain a multiple of
23 chromosomes
A cell containing three copies of one chromosome
is trisomic (trisomy)
Monosomy is the presence of only one copy of
any chromosome
Monosomy is lethal, but infants can survive with
trisomy of certain chromosomes
It is better to have extra than less
Nondisjunction
Usually the cause of aneuploidy
Failure of homologous chromosomes or sister
chromatids to separate normally during meiosis or
mitosis
Partial trisomy
Only an extra portion of a chromosome is present
in each cell
Chromosomal mosaics
Trisomies occurring only in some cells of the body
Down syndrome
Best known example of aneuploidy
• Trisomy 21
1:800 live births
Mentally challenged, low nasal bridge, epicanthal
folds, protruding tongue, low-set ears, poor
muscle tone
Risk increases with maternal age above 35
Courtesy Drs. A. Olney and M. MacDonald, University of Nebraska Medical Center, Omaha, Neb.
Turner syndrome
Females with only one X chromosome
Characteristics:
• Underdeveloped ovaries (sterile)
• Short stature (~ 4'7")
• Webbing of the neck
• Edema
• Underdeveloped breasts; wide nipples
• High number of aborted fetuses
X is usually inherited from mother
From Patton KT, Thibodeau GA: Anatomy & physiology, ed 8, St Louis, 2013, Mosby. Courtesy Nancy S. Wexler, PhD,
Columbia University.
Klinefelter syndrome
Individuals with at least two Xs and one Y
chromosome
Characteristics
• Male appearance
• Develop female-like breasts
• Small testes—usually sterile
• Sparse body hair
• Long limbs
From Patton KT, Thibodeau GA: Anatomy & physiology, ed 9, St Louis, 2016, Mosby. Courtesy Nancy S. Wexler,
PhD, Columbia University.