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Honors Biology Ch. 11. Complex Inheritance and Human Heredity. I. Human Inheritance. - heredity in humans is the same as in other organisms - most genetic diseases are recessive and rare. A. Recessive Traits. - diseases caused by a single defective gene/protein 1. Cystic Fibrosis (CF)
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Honors BiologyCh. 11 Complex Inheritance and Human Heredity
I. Human Inheritance • - heredity in humans is the same as in other organisms • - most genetic diseases are recessive and rare
A. Recessive Traits • - diseases caused by a single defective gene/protein • 1. Cystic Fibrosis (CF) • 2. Tay-Sachs Disease • 3. Albinism • 4. Phenylketonuria (PKU) • 5. Sickle-Cell Anemia
Woody Guthrie B. Dominant Traits • 1. Huntington’s Disease - rare, degenerative nervous system disorder
2. Achondroplasia • - a disorder of bone growth • - homozygous dominant condition is fatal
II. Other Inheritance Patterns • A. Sex Chromosomes: • - pair of chromosomes that determine an individual’s sex • XX - female XY - male • Autosomes:the other chromosome pairs except the sex chromosomes
B. Sex-Linked Traits: • - trait controlled by a recessive allele on the "X" sex chromosome • - more common in males • - Ex. Red-green color-blindness, hemophilia
C. Sex-Influenced Traits: • - trait controlled by an allele that is recessive in females and dominant in males • - Ex. Male-pattern Baldness
D. Incomplete Dominance: • - a trait in which the heterozygote shows a blending of traits • - Ex. Carnations and Snap dragons: • R - red, W - white, RW - pink
Incomplete Dominance: P R R Homozygous Red Parent W R W R W Homozygous White Parent Pink Pink W R W R W Pink Pink
Incomplete Dominance: F1 R W HeterozygousPink Parent R R R R W Heterozygous Pink Parent Red Pink R W W W W Pink White
E. Codominance: • - a trait in which the heterozygote shows both alleles equally • - Ex. Horses: • R - red, W - white, RW - roan • - Ex. ABO Blood Groups • A B AB
E. Codominance: Roan Horses
E. Codominance: ABO Blood Groups
F. Polygenic Inheritance: • - traits controlled by more than one pair of genes • - Ex. hair, skin, and eye color
dark brown light brown light brown blue AAbB AAbb AabB Aabb dark brown light brown light brown blue aABB aABb aaBB aaBb light brown blue blue light blue aABb aABb aaBb aabb EGGS Mother AB Ab aB ab AaBb black dark brown dark brown light brown Human Eye Color AB AABB AABb AaBB AaBb Ab Father SPERM AaBb aB ab
G. Epistasis - A gene at one locus alters the phenotypic expression of a gene at a second locus. - Example: black, brown, and white coat in mice
BbCc BbCc Sperm 1⁄4 bC 1⁄4 Bc 1⁄4 BC bc 1⁄4 Eggs 1⁄4 BBCC BbCC BbCc BC BBCc 1⁄4 bC BbCC bbCC bbCc BbCc 1⁄4 BBcc BBCc BbCc Bbcc Bc bbcc Bbcc BbCc 1⁄4 bbCc bc 4⁄16 9⁄16 3⁄16 Epistasis: Black, Brown, and White Coat in Mice
H. Multiple Alleles: • 1. ABO Blood Groups: • - 4 blood types: A, B, AB, O • - caused by a protein in the membranes of red blood cells • - 3 alleles for this protein: IA, IB, i
- Genotypes for the 4 blood types: • Type A: IA IA, IAi • Type B: IB IB, IBi • Type AB: IA IBUniversal Recipient • Type O: ii Universal Donor
2. Rh Blood Groups: • - an example of multiple alleles • - there are about 8 dominant alleles (+) • - one recessive allele (-)
III. Nondisjunction: • - homologous chromosomes fail to separate during meiosis
III. Nondisjunction: • - Down Syndrome (Trisomy 21) • - Klinefelter’s Syndrome (XXY) • - XYY Syndrome • - Turner’s Syndrome (Monosomy X) (X) • - Trisomy X (XXX)
400 300 Number per 1000 Births 200 100 0 10 20 30 40 50 Age of Mother (years) Incidence of Down Syndrome
IV.Fetal Testing: • - Amniocentesis • - Chorionic Villus Sampling • - Ultrasound
Head Body Head Body Ultrasound image
The End