Normal allele PKU allele # 1 DNA mRNA protein Intron Exon The amino acids that signal the enzyme to cut the DNA could be lost in the deletion resulting in the DNA not being cut as it normally would. This deletion could also cause a frame shift that could change the amino acids that occur after the mutation. This could lead to the base sequence that the enzyme cuts to appear more or less frequently than normal, causing the DNA to be cut differently. This would affect the size, shape, and function of the protein created, causing a deficiency of phenylalanine hydroxylase resulting in PKU. Group # 1: Questions: 1. Mental retardation 2. Dihydropteridine reductase 3. Autosomal recessive 4. Incidence: 1 in 10,000 Allele Frequency: 1 in 100 Deletion of Exon results in loss of 52 amino acids protein would be smaller than normal and take on a different shape because the charges of the amino acid and alter the way they bind together

Normal allelePKU allele # 4 DNA mRNA protein Intron Exon Phenylketonuria Glu280 Lys280 gaa aaa The codon for Glutamate (gaa) was mutated to a codon for Lysine (aaa). This would cause the loss of a negatively charged amino acid which is then replaced with a positively charged amino acid.

Questions 1.Light pigmentation, epilepsy, “moosy” odor 2.PAH 3.Autosomal recessive 4.1 per 10,000; 1/100 Group # 22 Normal allelePKU allele # _11__ DNA mRNA protein Intron Exon ARG PAH STOP CODON CGA TGA CGA UGA

1. Mental Retardation, mousy odor, light pigmentation, peculiarities of gait, stance, and sitting posture, eczema, and epilepsy. 2. Phenylalanine hydroxylase enzyme. 3. Autosomal recessive 4. Incidence is 1 per 10,000 allele frequency = 0.01 or 1/100 Group # 25 Normal allele PKU allele # 23 DNA mRNA protein Intron Exon TCCTTC UCCUUC SER PHE Serine is an uncharged polar amino acid, which is replaced with phenylalanine an uncharged nonpolar amino acid. Changing from polar to nonpolar would be crucial to the enzyme phenylalanine hydroxylase, which normally converts phenylalanine to the amino acid, tyrosine. 273

Questions 1. Symptoms of PKU a. Untreated: mental retardation, “mousy” odor, light pigmentation, peculiarities of gait, stance, and sitting posture, eczema, and epilepsy b. Treated: mildly depressed IQ 2. PKU results from a mutation in the structural gene for phenylalanine hydroxylase. 3. The mode of inheritance is autosomol recessive. 4. The incidence of PKU in Europeans at birth is 1 per 10,000. a. The predicted allele frequency of the PKU allele is 1/100 b. The predicted carrier frequency is 198 per 10,000 or Group #28 Normal allele PKU allele # 46 DNA mRNA protein Intron Exon DNA mRNA protein In-frame deletion occurs to exon 11 Protein has section missing due to deletion of exon 11, there for it is lacking 5 amino acids Exon 11

Questions 1.Mental retardation, light pigmentation, eczema, and epilepsy 2.Phenylalanine hydroxylase 3.Autosomal recessive 4. PKU in Europeans is 1 in 10,000. Predicted allele frequency is 1 in 100. Group # Names Normal allele PKU allele # __61_ DNA mRNA protein Intron Exon The deletions of the bases in codon 376 and 377 caused a stop codon to be created at 399, making a premature termination in the protein. 32