Kromosom 14 (čovjek)

Skica kromosoma 14 s obilježenim genskim lokusima.

Kromosom 14 u kariotipu čovjeka je autosomni kromosom, četrnaesti po redu po dimenzijama i broju nukleotida. Prema položaju centromere pripada akrocentričnim kromosomima. Sastoji se od 109 milijuna nukleotida što predstavlja oko 3-3,5 % ukupne količine DNK u stanici.

Potvrđeno je da kromosom 14 sadrži preko 700 gena, ali se pretpostavlja da ih ima oko 1300.[1]

Broj polimorfizama jednog nukleotida (eng. Single Nucleotide Polymorphism - SNP) je oko 350 000.

Geni kromosoma 14

Neki od važnijih gena kromosoma 14 jesu[2]:

  • ATXN3: ataksin-3
  • COCH: homolog koagulacijskog faktora C Limulusa polyphemusa
  • GALC: galaktozilceramidaza
  • GCH1: GTP ciklohidrolaza 1
  • IGH@: teški lanac imunoglobulina
  • IFT43: intraflagelarni transport 43
  • NPC2: gen asociran s Niemann-Pickovom bolešću, tip C2
  • PSEN1: presenilin 1
  • SERPINA1: inhibitor serpin peptidase A1
  • TSHR: receptor stimulirajućeg hormona štitnjače


Bolesti vezane za kromosom 14

Poznat je sadržaj i raspored gena kromosoma 14 čije mutacije izazivaju niz nasljednih bolesti. Najvažnije bolesti vezane za mutacije na kromosomu 14 jesu[3]:


Literatura

  1. (engl.) Heilig R; i dr. 2003. The DNA sequence and analysis of human chromosome 14. Nature. svezak 421 (broj 6923): str. 601.-607. PMID 12508121 Eksplicitna upotreba et al. u: |author= (pomoć)
  2. (engl.) Geni kromosoma 14 na Genetics home referenceArhivirana inačica izvorne stranice od 4. srpnja 2013. (Wayback Machine), pristupljeno 23. srpnja 2013.
  3. (engl.) Genetics home reference - bolesti vezane za kromosom 14, pristupljeno 23. srpnja 2013.

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