Kromozom 3
Vikipedi, özgür ansiklopedi
Kromozom 3; 22 çift otozomal insan kromozomlarından 3. olanıdır. İnsanlarda normalde bir çift halinde bulunur. 200 milyon baz çiftine ve toplam hücre DNA'sının %6,5'ine sahiptir. Kromozom 3 muhtemelen 1,100 ile 1,500 arasında gen içermektedir.
[değiştir] Genler
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The following are some of the genes located on chromosome 3:
- ALAS1: aminolevulinate, delta-, synthase 1
- BTD: biotinidase
- CCR5: chemokine (C-C motif) receptor 5
- CPOX: coproporphyrinogen oxidase (coproporphyria, harderoporphyria)
- HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase)
- MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
- MITF: microphthalmia-associated transcription factor
- MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
- PCCB: propionyl Coenzyme A carboxylase, beta polypeptide
- PDCD10: programmed cell death 10
- PIK3CA: phosphoinositide-3-kinase, catalytic, alpha polypeptide
- RAB7: RAB7, member RAS oncogene family
- SCN5A: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)
- SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
- TMIE: transmembrane inner ear
- USH3A: Usher syndrome 3A
- VHL: von Hippel-Lindau tumor suppressor
- ZNF9: zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)
[değiştir] Hastalıklar
The following diseases are some of those related to genes on chromosome 3:
- alkaptonuria
- biotinidase deficiency
- Brugada syndrome
- carnitine-acylcarnitine translocase deficiency
- cerebral cavernous malformation
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 2
- hereditary coproporphyria
- hereditary nonpolyposis colorectal cancer
- 3-methylcrotonyl-CoA carboxylase deficiency
- myotonic dystrophy
- myotonic dystrophy, type 2
- nonsyndromic deafness
- nonsyndromic deafness, autosomal recessive
- porphyria
- propionic acidemia
- Romano-Ward syndrome
- Usher syndrome
- Usher syndrome type III
- von Hippel-Lindau syndrome
- Waardenburg syndrome
- Autism
- Night blindness
- Deafness
- HIV infection, susceptibility/resistance to
- Diabetes
- Breast/colon/lung/pancreatic cancer
- Usher syndrome/ Usher syndrome (Finland)
- Ovarian cancer
- Muir-Torre family cancer syndrome
- Glaucoma, primary open angle
- Essential tremors
- Short stature
- Leukoencephalopathy with vanishing white matter
- Harderoporphyrinuria
- Spinocerebellar ataxia
- Moyamoya disease
- Endplate acetlycholinesterase deficiency
- Hypobetalipoproteinemia, familial
- Septooptic dysplasia
- Long QT syndrome
- Cataracts
- Mucopolysaccharidosis
- Heart block, progressive/nonprogressive
- Malignant hyperthermia susceptibility
- Atransferrinemia
- Sucrose intolerance
- Cerebral cavernous malformations
- Neuropathy, hereditary motor and sensory, Okinawa type
- Protein S deficiency
- T-cell leukemia translocation altered gene
- Xeroderma pigmentosum, complementation group c
- Hailey-Hailey disease
- Coproporphyria
- Dopamine receptor
- Glycogen storage disease
- Arrhythmogenic right ventricular dysplasia
- Pseudo-Zellweger syndrome
- Blepharophimosis, epicanthus inversus and ptosis type 1
- Lymphomas
- Metaphyseal chondrodysplasia, Murk Jansen type
- Moebius syndrome
- Epidermolysis bullosa
[değiştir] Düzensizlikleri
- 3p kısmi trizomisi, Kranio-fasial düzensizlikler ve mental gerilik ve düğümlü parmak izi karakteristiktir.
- Duplikasyon-delesyon sendromu, uzun kol ucu duplikasyonu ve kısa kol ucu delesyonları da prenatal ve postnatal gelişme geriliğ, genital organ düzensizlikleri, mental gerilik, konjenital kalp rahatsızlıklarına nedendir. Mayotik nondisjunctiona bağlı ortaya çıkmaktadır.
Kromozomlar - İnsan kromozomlarıdeğiştir |
Otozomlar |
1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | |
Gonozomlar |
X Kromozomu | Y Kromozomu |