Первая человеческая хромосома

Human chromosome

Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells. It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.

There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer's disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth. Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception. 550 and 850). Band length in this diagram is based on the ideograms from ISCN (2013). This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process. + G bands of human chromosome 1 in resolution 850 bphs Band ISCNstart ISCNstop Density 1 p 36.33 0 100 1 2300000 gneg 1 p 36.32 100 244 2300001 5300000 gpos 25 1 p 36.31 244 344 5300001 7100000 gneg 1 p 36.23 344 459 7100001 9100000 gpos 25 1 p 36.22 459 660 9100001 12500000 gneg 1 p 36.21 660 861 12500001 15900000 gpos 50 1 p 36.13 861 1206 15900001 20100000 gneg 1 p 36.12 1206 1321 20100001 23600000 gpos 25 1 p 36.11 1321 1521 23600001 27600000 gneg 1 p 35.3 1521 1651 27600001 29900000 gpos 25 1 p 35.2 1651 1780 29900001 32300000 gneg 1 p 35.1 1780 1895 32300001 34300000 gpos 25 1 p 34.3 1895 2210 34300001 39600000 gneg 1 p 34.2 2210 2411 39600001 43700000 gpos 25 1 p 34.1 2411 2770 43700001 46300000 gneg 1 p 33 2770 2986 46300001 50200000 gpos 75 1 p 32.3 2986 3273 50200001 55600000 gneg 1 p 32.2 3273 3416 55600001 58500000 gpos 50 1 p 32.1 3416 3732 58500001 60800000 gneg 1 p 31.3 3732 3976 60800001 68500000 gpos 50 1 p 31.2 3976 4206 68500001 69300000 gneg 1 p 31.1 4206 4852 69300001 84400000 gpos 100 1 p 22.3 4852 5210 84400001 87900000 gneg 1 p 22.2 5210 5440 87900001 91500000 gpos 75 1 p 22.1 5440 5741 91500001 94300000 gneg 1 p 21.3 5741 5957 94300001 99300000 gpos 75 1 p 21.2 5957 6029 99300001 101800000 gneg 1 p 21.1 6029 6244 101800001 106700000 gpos 100 1 p 13.3 6244 6459 106700001 111200000 gneg 1 p 13.2 6459 6660 111200001 115500000 gpos 50 1 p 13.1 6660 6861 115500001 117200000 gneg 1 p 12 6861 7048 117200001 120400000 gpos 50 1 p 11.2 7048 7119 120400001 121700000 gneg 1 p 11.1 7119 7335 121700001 123400000 acen 1 q 11 7335 7579 123400001 125100000 acen 1 q 12 7579 8483 125100001 143200000 gvar 1 q 21.1 8483 8756 143200001 147500000 gneg 1 q 21.2 8756 8957 147500001 150600000 gpos 50 1 q 21.3 8957 9244 150600001 155100000 gneg 1 q 22 9244 9459 155100001 156600000 gpos 50 1 q 23.1 9459 9832 156600001 159100000 gneg 1 q 23.2 9832 10048 159100001 160500000 gpos 50 1 q 23.3 10048 10349 160500001 165500000 gneg 1 q 24.1 10349 10507 165500001 167200000 gpos 50 1 q 24.2 10507 10679 167200001 170900000 gneg 1 q 24.3 10679 10894 170900001 173000000 gpos 75 1 q 25.1 10894 11009 173000001 176100000 gneg 1 q 25.2 11009 11196 176100001 180300000 gpos 50 1 q 25.3 11196 11598 180300001 185800000 gneg 1 q 31.1 11598 11827 185800001 190800000 gpos 100 1 q 31.2 11827 11942 190800001 193800000 gneg 1 q 31.3 11942 12172 193800001 198700000 gpos 100 1 q 32.1 12172 12617 198700001 207100000 gneg 1 q 32.2 12617 12803 207100001 211300000 gpos 25 1 q 32.3 12803 13033 211300001 214400000 gneg 1 q 41 13033 13320 214400001 223900000 gpos 100 1 q 42.11 13320 13406 223900001 224400000 gneg 1 q 42.12 13406 13607 224400001 226800000 gpos 25 1 q 42.13 13607 13966 226800001 230500000 gneg 1 q 42.2 13966 14153 230500001 234600000 gpos 50 1 q 42.3 14153 14397 234600001 236400000 gneg 1 q 43 14397 14756 236400001 243500000 gpos 75 1 q 44 14756 15100 243500001 248956422 gneg

There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer's disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth. Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception. 550 and 850). Band length in this diagram is based on the ideograms from ISCN (2013). This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process. + G bands of human chromosome 1 in resolution 850 bphs Band ISCNstart ISCNstop Density 1 p 36.33 0 100 1 2300000 gneg 1 p 36.32 100 244 2300001 5300000 gpos 25 1 p 36.31 244 344 5300001 7100000 gneg 1 p 36.23 344 459 7100001 9100000 gpos 25 1 p 36.22 459 660 9100001 12500000 gneg 1 p 36.21 660 861 12500001 15900000 gpos 50 1 p 36.13 861 1206 15900001 20100000 gneg 1 p 36.12 1206 1321 20100001 23600000 gpos 25 1 p 36.11 1321 1521 23600001 27600000 gneg 1 p 35.3 1521 1651 27600001 29900000 gpos 25 1 p 35.2 1651 1780 29900001 32300000 gneg 1 p 35.1 1780 1895 32300001 34300000 gpos 25 1 p 34.3 1895 2210 34300001 39600000 gneg 1 p 34.2 2210 2411 39600001 43700000 gpos 25 1 p 34.1 2411 2770 43700001 46300000 gneg 1 p 33 2770 2986 46300001 50200000 gpos 75 1 p 32.3 2986 3273 50200001 55600000 gneg 1 p 32.2 3273 3416 55600001 58500000 gpos 50 1 p 32.1 3416 3732 58500001 60800000 gneg 1 p 31.3 3732 3976 60800001 68500000 gpos 50 1 p 31.2 3976 4206 68500001 69300000 gneg 1 p 31.1 4206 4852 69300001 84400000 gpos 100 1 p 22.3 4852 5210 84400001 87900000 gneg 1 p 22.2 5210 5440 87900001 91500000 gpos 75 1 p 22.1 5440 5741 91500001 94300000 gneg 1 p 21.3 5741 5957 94300001 99300000 gpos 75 1 p 21.2 5957 6029 99300001 101800000 gneg 1 p 21.1 6029 6244 101800001 106700000 gpos 100 1 p 13.3 6244 6459 106700001 111200000 gneg 1 p 13.2 6459 6660 111200001 115500000 gpos 50 1 p 13.1 6660 6861 115500001 117200000 gneg 1 p 12 6861 7048 117200001 120400000 gpos 50 1 p 11.2 7048 7119 120400001 121700000 gneg 1 p 11.1 7119 7335 121700001 123400000 acen 1 q 11 7335 7579 123400001 125100000 acen 1 q 12 7579 8483 125100001 143200000 gvar 1 q 21.1 8483 8756 143200001 147500000 gneg 1 q 21.2 8756 8957 147500001 150600000 gpos 50 1 q 21.3 8957 9244 150600001 155100000 gneg 1 q 22 9244 9459 155100001 156600000 gpos 50 1 q 23.1 9459 9832 156600001 159100000 gneg 1 q 23.2 9832 10048 159100001 160500000 gpos 50 1 q 23.3 10048 10349 160500001 165500000 gneg 1 q 24.1 10349 10507 165500001 167200000 gpos 50 1 q 24.2 10507 10679 167200001 170900000 gneg 1 q 24.3 10679 10894 170900001 173000000 gpos 75 1 q 25.1 10894 11009 173000001 176100000 gneg 1 q 25.2 11009 11196 176100001 180300000 gpos 50 1 q 25.3 11196 11598 180300001 185800000 gneg 1 q 31.1 11598 11827 185800001 190800000 gpos 100 1 q 31.2 11827 11942 190800001 193800000 gneg 1 q 31.3 11942 12172 193800001 198700000 gpos 100 1 q 32.1 12172 12617 198700001 207100000 gneg 1 q 32.2 12617 12803 207100001 211300000 gpos 25 1 q 32.3 12803 13033 211300001 214400000 gneg 1 q 41 13033 13320 214400001 223900000 gpos 100 1 q 42.11 13320 13406 223900001 224400000 gneg 1 q 42.12 13406 13607 224400001 226800000 gpos 25 1 q 42.13 13607 13966 226800001 230500000 gneg 1 q 42.2 13966 14153 230500001 234600000 gpos 50 1 q 42.3 14153 14397 234600001 236400000 gneg 1 q 43 14397 14756 236400001 243500000 gpos 75 1 q 44 14756 15100 243500001 248956422 gneg