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Hromosom 7

ljudski hromosom

Hromosom 7 je jedan od 23 para hromosoma kod ljudi, koji normalno imaju njegove dvije kopije. Hromosom 7 ima oko 159 miliona[5] baznih parova (gradivnog materijala DNK) i obuhvata 5 do 5,5 % ukupne količine DNK u ćelijama.

Hromosom 7
Par ljudskih hromosoma 7 nakon G-pruganja.
Jedan je od majke, drugi od oca
Par hromosoma 7 u kariogramu muškarca
Karakteristike
Dužina (bp)159,345,973 bp
(GRCh38)[1]
Br. gena862 (Consensus CDS Project)[2]
VrstaAutosom
Pozicija centromereSubmetacentrik[3]
(60.1 Mbp[4])
Kompletan spisak gena
CCDSSpisak gena
HGNCSpisak gena
UniProtSpisak gena
NCBISpisak gena
Vanjski preglednici karata
EnsemblHromosom 7
EntrezHromosom 7
NCBIHromosom 7
UCSCHromosom 7
Potpune DNK sekvence
RefSeqNC_000007 (FASTA)
GenBankCM000669 (FASTA)

Geni

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Broj gena

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Slijede neke od procjena broja gena za ljudski hromosom 7. Budući da istraživači koriste različite pristupe označavanja genoma, njihova predviđanja broja gena na svakom hromosomu variraju (za tehničke detalje pogledajte predviđanje gena). Među raznim projektima, zajednički Projekat konsenzusnog kodiranja (CCDS) zauzima izuzetno konzervativnu strategiju. Dakle, predviđanje broja gena CCDS-a predstavlja donju granicu ukupnog broja gena koji kodiraju ljudske proteine.[6]

Baza podataka Protein-kodirajući geni Nekodirajući geni RNK Pseudogeni Izvor Datum objave
CCDS
 862 — — [2] 2016-09-08
HGNC
 870 245 703 [7] 2017-05-12
Ensembl
 984 973 889 [8] 2017-03-29
UniProt
 944 — — [9] 2018-02-28
NCBI
948 905 933 [10][11][12] 2017-05-19

Lista gena

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Slijedi djelimična lista gena na ljudskom hromosomu 7. Potpunu listu potražite u linku u informacijskom okviru s desne strane.

Bolesti i poremećaji

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Sljedeće bolesti su neke od onih koje su u vezi sa genima na hromosomu 7:

Hromosomski poremećaji

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Sljedeća stanja uzrokovana su promjenama u strukturi ili broju kopija hromosoma 7:

  • Williamsov sindrom je uzrokovan delecijom genetičkog materijala iz dijela dugog (q) kraka hromosoma 7. Deletirana regija koja se nalazi na položaju 11.23 (zapisano kao 7q11.23) označena je kao kritična regija Williamsovog sindroma. Ova regija uključuje više od 20 gena, a i vjeruje se da su karakteristične osobine Williamsovog sindroma vjerovatno povezane s gubitkom više gena u ovoj regiji.

Iako je identificirano nekoliko specifičnih gena povezanih s Williamsovim sindromom, veza između većine onih u izbrisanom području i simptoma Williamsovog sindroma je nepoznata.

  • Ostale promjene u broju ili strukturi hromosoma 7 mogu uzrokovati usporeni rast i razvoj, mentalni poremećaj, karakteristične crte lica, abnormalnosti skeleta, odgođen govor i druge medicinske probleme. Te promjene uključuju dodatnu kopiju dijela hromosoma 7 u svakoj ćeliji (djelimična trisomija 7) ili nedostatak segmenta hromosoma u svakoj ćeliji (djelomična monosomija 7). U nekim slučajevima nekoliko se gradivnih blokova DNK (nukleotida) deletira ili duplira u dijelu hromosoma 7. Moguća je i kružna struktura nazvana prstenasti hromosom 7. Prstenasti hromosom nastaje kad se oba kraja sprekinutog og hromosoma međusobno spoje.[24]

Citogenetičke pruge

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Idiogrami G-pruganoh ljudskog hromosoma 7
 
G-prugani hromosom ideogram of human 7 u rezoluciji 850 bphs. Dužina pruga/bendova na ovom dijagramu proporcionalna je dužini osnovnog para. Ovaj tip idiograma obično se koristi u pretraživačima genoma (npr. Ensembl, UCSC pretraživač genoma.
 
Obrazac G-pruga ljudskog hromosoma 7 u tri različite rezolucije (400,[25] 550[26] and 850[4]). Band length in this diagram is based on the ideograms from ISCN (2013).[27] Ovaj tip idoograma predstavlja stvarnu relativnu dužinu pruga uočenih pod mikroskopom u različitim fazama tokom procesa mitoze.[28]
G-pruges ljudskog hromosoma 7 u rezoluciji 850 bphs[4]
Chr. Krak
p – kratki
q – dugi 		Pruga[29] ISCN
start[30] 		ISCN
stop 		Bazni par
start 		Bazni par<
stop 		Boja Gustoća
7 p 22.3 0 227 1 2.800.000 gneg
7 p 22.2 227 397 2.800.001 4.500.000 gpos 25
7 p 22.1 397 610 4.500.001 7.200.000 gneg
7 p 21.3 610 908 7.200.001 13.700.000 gpos 100
7 p 21.2 908 965 13.700.001 16.500.000 gneg
7 p 21.1 965 1121 16.500.001 20.900.000 gpos 100
7 p 15.3 1121 1419 20.900.001 25.500.000 gneg
7 p 15.2 1419 1589 25.500.001 27.900.000 gpos 50
7 p 15.1 1589 1816 27.900.001 28.800.000 gneg
7 p 14.3 1816 1986 28.800.001 34.900.000 gpos 75
7 p 14.2 1986 2043 34.900.001 37.100.000 gneg
7 p 14.1 2043 2327 37.100.001 43.300.000 gpos 75
7 p 13 2327 2639 43.300.001 45.400.000 gneg
7 p 12.3 2639 2838 45.400.001 49.000.000 gpos 75
7 p 12.2 2838 2909 49.000.001 50.500.000 gneg
7 p 12.1 2909 3093 50.500.001 53.900.000 gpos 75
7 p 11.2 3093 3306 53.900.001 58.100.000 gneg
7 p 11.1 3306 3448 58.100.001 60.100.000 acen
7 q 11.1 3448 3689 60.100.001 62.100.000 acen
7 q 11.21 3689 3973 62.100.001 67.500.000 gneg
7 q 11.22 3973 4171 67.500.001 72.700.000 gpos 50
7 q 11.23 4171 4597 72.700.001 77.900.000 gneg
7 q 21.11 4597 4994 77.900.001 86.700.000 gpos 100
7 q 21.12 4994 5108 86.700.001 88.500.000 gneg
7 q 21.13 5108 5292 88.500.001 91.500.000 gpos 75
7 q 21.2 5292 5406 91.500.001 93.300.000 gneg
7 q 21.3 5406 5661 93.300.001 98.400.000 gpos 75
7 q 22.1 5661 6129 98.400.001 104.200.000 gneg
7 q 22.2 6129 6300 104.200.001 104.900.000 gpos 50
7 q 22.3 6300 6470 104.900.001 107.800.000 gneg
7 q 31.1 6470 6683 107.800.001 115.000.000 gpos 75
7 q 31.2 6683 6867 115.000.001 117.700.000 gneg
7 q 31.31 6867 7094 117.700.001 121.400.000 gpos 75
7 q 31.32 7094 7208 121.400.001 124.100.000 gneg
7 q 31.33 7208 7364 124.100.001 127.500.000 gpos 75
7 q 32.1 7364 7449 127.500.001 129.600.000 gneg
7 q 32.2 7449 7576 129.600.001 130.800.000 gpos 25
7 q 32.3 7576 7803 130.800.001 132.900.000 gneg
7 q 33 7803 8031 132.900.001 138.500.000 gpos 50
7 q 34 8031 8371 138.500.001 143.400.000 gneg
7 q 35 8371 8612 143.400.001 148.200.000 gpos 75
7 q 36.1 8612 8910 148.200.001 152.800.000 gneg
7 q 36.2 8910 9080 152.800.001 155.200.000 gpos 25
7 q 36.3 9080 9350 155.200.001 159.345.973 gneg
Oznake: gpos – Regija koja je pozitivno obojena G pruganjem, uglavnom je AT-bogata i siromašna genima; gneg – Regija koja je negativno obojena, općenito je CG-bogata i bogata genima; acen Centromere; var – Varijabilna regija; stalk: drška.

Reference

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  29. ^ For cytogenetic banding nomenclature, see article lokus.
  30. ^ These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.

Dopunska literatura

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  • Rodríguez L, López F, Paisán L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML (Nov 2002). "Pure partial trisomy 7q: two new patients and review". American Journal of Medical Genetics. 113 (2): 218–224. doi:10.1002/ajmg.10719. PMID 12407716.

Vanjski linkovi

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Commons logo
Commons ima datoteke na temu: Hromosom 7
  • National Institutes of Health. "Chromosome 7". Genetics Home Reference. Arhivirano s originala, 8. 4. 2016. Pristupljeno 6. 5. 2017.
  • "Chromosome 7". Human Genome Project Information Archive 1990–2003. Pristupljeno 6. 5. 2017.


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