The mice that learned faster in the second time test. Concept introduction: Autism is a neurological disorder in which patients have impaired social interactions and repetitive, stereotyped behaviors. The condition appears due to mutation in the gene neuroligin 3, and an adhesion protein that connects the brain cells together. The mutation causes substitution of a cysteine (C) amino acid by arginine (R) in position 451.

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Chapter 15, Problem 3DAA

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To determine: The mice that learned faster in the second time test.

Concept introduction: Autism is a neurological disorder in which patients have impaired social interactions and repetitive, stereotyped behaviors. The condition appears due to mutation in the gene neuroligin 3, and an adhesion protein that connects the brain cells together. The mutation causes substitution of a cysteine (C) amino acid by arginine (R) in position 451.

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Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids). (a) Nonsense mutation in a coding region (b) Insertion in Exon 1, causing frameshift (c) Insertion in Exon 7, causing frameshift (d) Missense mutation (e) Deletion in Exon 2, causing frameshift (f) Deletion in Exon 2, in frame (g) Large deletion covering Exons 2 and 3