ANTH 2 Lecture Notes - Lecture 9: Intron, Transfer Rna, Down Syndrome
Document Summary
Up to 95% of human dna (outside of exons) is noncoding. It is now known that at least half of this noncoding rna and microrna. With the help of rrna and trna amino acid chain is formed. Amino acid chain is folded into a protein. Point- alteration in single base pair; may or may not affect the phenotype. Chromosomal- segments or entire chromosome replicates improperly; always affects the phenotype. Occurs in 1 out of every 1000 births. One of most common genetic disorders among european americans. In 1989 found gene on chromosome 7 but only for the mild form of cf. Now 360+ genes have been linked to cf. One mutation causes about 70% of cf cases. But 80% of all cf cases are children without a family history of cf. Degeneration of nervous system beginning at about 6 months of age and lethal by 2 or 3 years.
