Kromosom 19 (manusia)

Kromosom 19, salah satu dari 23 kromosom pada manusia, terdiri dari sekitar 1.300 hingga 1.700 gen dengan kurang lebih 63 juta pasangan basa dan rasio DNA antara 2-2,5%. Kromosom 19 merupakan kromosom terpadat yang terdapat pada manusia.[1]

Gen

Beberapa di antara gen yang terdapat pada kromosom 19:

• APOE: Apolipoprotein E, gen yang terkait dengan Alzheimer,[2][3] Nefropati diabetik[4]
• BCKDHA: polipeptida Branched chain keto acid dehydrogenase E1 alpha, penyakit urin sirup mapel
• CACNA1A: Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, gen yang terkait dengan familial hemiplegic migraine type I.
• DMPK: Dystrophia myotonica-protein kinase, Miotonik distrofi[5]
• GCDH: Glutaryl-Coenzyme A dehidrogenase
• HAMP: Hepcidin antimicrobial peptide
• MCPH2: mikrosefalus
• NOTCH3: Notch homolog 3 Drosofila, CADASIL[6]
• NRTN: Neurturin, terkait dengan penyakit Hirschsprung
• PEX11G: peroxisomal biogenesis factor 11 gamma
• PNKP: polynucleotide kinase 3'-phosphatase, mikrosefalus, MCSZ[7]
• PRX: Periaksin
• SLC5A5: Solute carrier family 5 (sodium iodide symporter), member 5
• SORCS1: Diabetes mellitus tipe 2 yang diinduksi oleh faktor kegemukan.[8]
• STK11: Serina/treonina kinase 11, terkait dengan sindrom Peutz-Jeghers
• Diabetes mellitus tipe 2[1]
• Hiperkolesterolamia[1]

Rujukan

1. (Inggris) "The DNA sequence and biology of human chromosome 19". Stanford Human Genome Center, Department of Genetics, Stanford University School of Medicine; Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM. Diakses tanggal 2010-05-10. 
2. (Inggris) "Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13?". Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University; Blom ES, Holmans P, Arepalli S, Adighibe O, Hamshere ML, Gatz M, Pedersen NL, Bergem AL, Owen MJ, Hollingworth P, Goate A, Williams J, Lannfelt L, Hardy J, Wavrant-De Vrièze F, Glaser A. Diakses tanggal 2010-05-10. 
3. (Inggris) "Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease". Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O; European Alzheimer's Disease Initiative Investigators, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P., Arosio B, Coto E, Del Zompo M, Deramecourt V, Epelbaum J, Forti P, Brice A, Ferri R, Scarpini E, Siciliano G, Solfrizzi V, Sorbi S, Spalletta G, Ravaglia G, Sahel J, Valdivieso F, Vepsäläinen S, Pilotto A. Diakses tanggal 2010-05-10. 
4. (Inggris) "Apo E gene polymorphism on development of diabetic nephropathy". Department of Biochemistry, Firat University Firat Medical Center; Ilhan N, Kahraman N, Seçkin D, Ilhan N, Colak R. Diakses tanggal 2010-05-10. 
5. (Inggris) "Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2". Institute of Human Genetics, University of Minnesota; Ranum LP, Day JW. Diakses tanggal 2010-05-10. 
6. (Inggris) "A case report about CADASlL: mutation in the NOTCH 3 receptor". Diskapi Yildirim Beyazit Training and Research Hospital, Neurology Department; Delibas S, Guven H, Comoglu SS. Diakses tanggal 2010-05-10. 
7. (Inggris) "Mutations in PNKP cause microcephaly, seizures and defects in DNA repair". Howard Hughes Medical Institute, et al; Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. Diakses tanggal 2010-05-10. 
8. (Inggris) "SORCS1: a novel human type 2 diabetes susceptibility gene suggested by the mouse". Cedars-Sinai Medical Center; Goodarzi MO, Lehman DM, Taylor KD, Guo X, Cui J, Quiñones MJ, Clee SM, Yandell BS, Blangero J, Hsueh WA, Attie AD, Stern MP, Rotter JI. Diakses tanggal 2010-05-10.