The salient observations of human genome are as follows:
(i) Approx. 3164.7 million bp. are present in the human genome.
(ii) The average gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases.
(iii) Approx 30,000 genes (total number of genes) were estimated that were much lower than previous estimates of 80,000 to 1,40,000 genes. Approx. 99.9 percent of nucleotide bases are exactly the same in all people.
(iv) The functions are not known for over 50 percent of the discovered genes.
(v) Proteins are coded by less than 2 per cent of the genome
(vi) A large portion of the human genome is comprised of repeated sequences.
(vii) The stretches of DNA sequences that are repeated many times, sometimes hundred to thousand times are repetitive sequences. They have no direct coding functions, but they give information on chromosome structure, dynamics, and evolution.
(viii) Most genes (2968) are present on chromosome 1, and the Y has the fewest (231)
(ix) About 1.4 million locations where single-base DNA differences (SNPs – single nucleotide polymorphism, pronounced as ‘snips’) occur in humans are identified by scientists
Final Answer: These salient features of human genome project help in tracing human history, locating various chromosomal diseases, etc.
