10. Molecular Basis of Gene Mutation Mutations are changes in the DNA sequence of genes. Point mutations typically refer to alterations of single base pairs of DNA or of a small number of adjacent base pairs. Mutations in DNA caus e substitutions in protein
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21. <> X-linked inheritance Asymptomatic, hemizygous fathers pass " fragile X " chromosome to daughters Heterozygous daughters transmit to 1/2 of sons, who show syndrome 1/2 of daughers are carriers Syndrome becomes more pronounced in successive generations expansioin of repeat occurs in female germline # CGG repeats Geno / Phenotype 6 ~ 54 standard ~ 55 ~ 200 carrier > 200 Fragile-X Syndrome