1. Inheritance and Human Genetics

2. Sex Determination X Y X X X X Y X X X
Use a punnett square to represent how sex is determined in offspring X Y X X X X Y X X X X Y

3. 23 Pairs of Chromosomes

6. Recessive X-linked Traits
Occurs mostly in males
Colorblindness
Hemophilia
Impairs the ability of the blood to clot after a cut, bruise, or other injury
Duchenne Muscular Dystrophy (DMD)
Lack of skeletal muscle

7. Sex Linked Traits Xn Y XN XN X XN Y Xn Xn Xn Normal eye sight - XN
Color Blind - Xn Xn Y XN XN X XN Y Xn Xn Xn Xn Yn

8. Single-Allele Traits Traits that are controlled by a single allele
Dominant single-allele traits
Huntington’s disease
Some early symptoms of HD are mood swings, depression, irritability or trouble driving, learning new things
As the disease progresses, difficulty feeding himself or herself and swallowing

9. Single Allele trait Recessive single-allele trait Cystic Fibrosis
An inherited disease that causes thick, sticky mucus to build up in the lungs and digestive tract.
Most people with cystic fibrosis died in their teens.

10. Single Allele trait Recessive single-allele trait Sickle cell anemia
Hemoglobin is a protein inside red blood cells that carries oxygen.
Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S.
Hemoglobin S distorts the shape of red blood cells, especially when there is low oxygen.

12. Single Allele trait Recessive single-allele trait
Phenylketonuria (PKU)
Accumulation of phenylalanine in tissues. Lack of normal skin pigment and can cause mental retardation
Tay-Sach’s Disease
Lipid accumulation in brain cells(CNS), mental deficiency. Death in early childhood

13. Other types Multiple alleles (polygenetic) ABO Blood Typing Hair Color
Eye Color
Height
Skin Tone

14. Pleiotropy occurs when a single gene influences multiple phenotypic traits. 

15. Chromosomal Disorders
Down syndrome –
Trisomy 21 or 3 copies of the 21st chromosome
Turner’s syndrome –
One X chromosome, usually called (45,X) Sterile

16. Chromosomal disorders
Fragile X syndrome
Most common mental impairment
Klinefelter’s Syndrome
More than one X chromosome
Sterile

17. Pedigree Analysis Have you ever seen a family tree… do you have one??
Pedigree of Queen Victoria
Have you ever seen a family tree… do you have one??
Graphic representation of family inheritance.

18. Why would we want to use a pedigree in genetics?
What is a pedigree?
Shows a pattern of inheritance in a family for a specific trait (phenotype)
Genotypes can usually be determined
Why would we want to use a pedigree in genetics?
Track the occurrence of diseases such as:
Huntington’s – simple dominant – lethal allele – causes breakdown of the brain
Cystic fibrosis – 1/2500 – mucus accumulates (white North Amer.)
Tay-Sachs disease – lipids accumulate in CNS (Jewish)
Phenylketonuria – missing enzyme causes problems in CNS (Nordic/Swedish)

19. The Symbols used:

20. Sample pedigree: generations are numbered with Roman Numerals
oldest offspring are on the left
How many males are present? How many females?
How many females show the trait being studied?
What is the sex of offspring III-9?
How many offspring did the generation I parents have?
What is the difference between the II-3 & 4 and IV-2 & 3?

21. Inheritance patterns:
Autosomal dominant:
The disease is passed from the father to the son, this never happens with X-linked traits. The disease occurs in three consecutive generations, this never happens with recessive traits. Males and females are affected, with roughly the same probability.
Examples: Polydactyly
Huntington’s disease

22. Inheritance patterns:
Autosomal recessive
Males and females are equally likely to be affected. The recurrence risk to the unborn sibling of an affected individual is 1/4. The trait is characteristically found in siblings, not parents of affected or the offspring of affected. Parents of affected children may be related. The rarer the trait in the general population, the more likely a consanguineous mating is involved.
Cystic fibrosis
Tay-Sach’s disease

23. Inheritance patterns:
Sex-linked recessive conditions
The disease is never passed from father to son. Males are much more likely to be affected than females.
All affected males in a family are related through their mothers. Trait or disease is typically passed from an affected grandfather, through his carrier daughters, to half of his grandsons.
Examples:
Color-blindness
Duchenne Muscular Dystrophy

24. ABO Blood Typing/ Pedigree

25. ABO Blood Typing/ Pedigree
The genotype of individual I-1 is ii
IAi
IBi
IAIA
IAIB

26. Lets try and figure out what’s going on