Interpret a pedigree.

1. Section Objectives: • Interpret a pedigree. • Identify human genetic disorders caused by inherited recessive alleles. • Predict how a human trait can be determined by a simple dominant allele.

2. Making a Pedigree • A family tree traces various family members through successive generations. • A pedigree is a graphic representation of genetic inheritance. • It is a diagram made up of a set of symbols that identify males and females, individuals affected by the trait being studied, and family relationships.

3. Male Parents Siblings Female Pedigrees illustrate inheritance Affected male Known heterozygotes for recessive allele Affected female Death Mating

4. Female Male I 1 2 II 2 1 4 5 3 III 1 4 2 3 ? IV 5 3 4 2 1

5. In a pedigree, a circle represents a female; a square represents a male. I 1 2 II 3 2 1 4 5 • Highlighted circles and squares represent individuals showing the trait being studied. III 1 4 2 3 ? IV 2 3 5 1 4

6. Circles and squares that are not highlighted designate individuals that do not show the trait. I 1 2 II 2 3 4 5 1 III 1 4 2 3 ? IV 3 5 2 4 1

7. A half-shaded circle or square represents a carrier, a heterozygous individual.

8. A horizontal line connecting a circle and a square indicates that the individuals are parents, and a vertical line connects parents with their offspring. I 1 2 II 4 2 3 1 5 III 1 4 2 3 ? IV 2 3 5 1 4

9. Each horizontal row of circles and squares in a pedigree designates a generation, with the most recent generation shown at the bottom. I 1 2 II 3 1 2 4 5 • The generations are identified in sequence by Roman numerals, and each individual is given an Arabic number. III 1 2 4 3 ? IV 3 5 1 2 4

10. Simple Recessive Heredity • Most genetic disorders are caused by recessive alleles. Cystic fibrosis • Cystic fibrosis (CF) is a fairly common genetic disorder among white Americans. • Approximately one in 28 white Americans carries the recessive allele, and one in 2500 children born to white Americans inherits the disorder. • Due to a defective protein in the plasma membrane, cystic fibrosis results in the formation and accumulation of thick mucus in the lungs and digestive tract.

11. Tay-Sachs disease - disease is a recessive disorder of the central nervous system • In this disorder, a recessive allele results in the absence of an enzyme that normally breaks down a lipid produced and stored in tissues of the central nervous system. I 1 2 II 1 2 4 3 III 3 1 2 IV 1 • Because this lipid fails to break down properly, it accumulates in the cells.

12. Phenylketonuria - (PKU), is a recessive disorder that results from the absence of an enzyme that converts one amino acid, phenylalanine, to a different amino acid, tyrosine. • Because phenylalanine cannot be broken down, it and its by-products accumulate in the body and result in severe damage to the central nervous system. • A PKU test is normally performed on all infants a few days after birth. • Infants affected by PKU are given a diet that is low in phenylalanine until their brains are fully developed. • Ironically, the success of treating phenylketonuria infants has resulted in a new problem.

13. Phenylketonuria

14. Phenylketonuria • If a female who is homozygous recessive for PKU becomes pregnant, the high phenylalanine levels in her blood can damage her fetus—the developing baby. • This problem occurs even if the fetus is heterozygous and would be phenotypically normal.

15. Phenylketonuria Phenylketonurics: Contains Phenylalanine

16. Simple Dominant Heredity • Many traits are inherited just as the rule of dominance predicts. • Remember that in Mendelian inheritance, a single dominant allele inherited from one parent is all that is needed for a person to show the dominant trait.

17. Simple dominant traits • A cleft chin, widow’s peak hairline, hitchhiker’s thumb, almond shaped eyes, thick lips, and the presence of hair on the middle section of your fingers all are examples of dominant traits.

18. Huntington’s disease • Huntington’s disease is a lethal genetic disorder caused by a rare dominant allele. • It results in a breakdown of certain areas of the brain.

19. Huntington’s disease • Ordinarily, a dominant allele with such severe effects would result in death before the affected individual could have children and pass the allele on to the next generation. • But because the onset of Huntington’s disease usually occurs between the ages of 30 and 50, an individual may already have had children before knowing whether he or she is affected.

20. Typical Pedigree of Huntington’s Disease I 1 2 II 2 5 1 4 3 III 1 2 3 4 5