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Kromozom 5 (insan)

Kromozom 5, 22 çift otozomal insan kromozomlarından 5. olanıdır. İnsanlarda normalde bir çift halinde bulunur. 181 milyon baz çiftine ve toplam hücre DNA'sının %6'sına sahiptir. Kromozom 5 muhtemelen 900 ile 1,300 arasında gen içermektedir.

İnsan karyotipinde kromozomlar

Genler

Kromozom 5'te bulunan genlerden bazıları şunlardır;

  • ADAMTS2: ADAM metallopeptidaz thrombospondin tip 1 motif, 2 ile.
  • APC: adenomatozis polipozis koli
  • EGR1: erken büyüme yanıtlama proteini 1
  • ERCC8
  • FGFR4: fibroblast büyüme faktörü reseptörü 4
  • GM2A: GM2 gangliosid activatörü
  • HEXB: heksosaminidaz B (beta polipeptid)
  • MASS1: monogenik, odiogenik yakalma hissedileilirliği 1 homolog (fare)
  • MCCC2: metilkrotonoil-Koenzim A karboksilaz 2 (beta)
  • MTRR: 5-metiltetrahidrofolat-homosistein metiltransferaz redüktaz
  • NIPBL: Kırık-B homolog (Drosophila)
  • SLC22A5: çözünen taşıyıcı ailesi 22 (organik katot taşıyıcı), üye 5
  • SLC26A2: çözünen taşıyıcı ailesi 26 (sülfat taşıyıcı), üye 2
  • SMN1: motor nöron 1, telomerik kalıtımı
  • SMN2: motor nöron 2, sentromerik kalıtımı
  • SNCAIP: sinuklein, alfa ekleyici protein (sinfilin)
  • TCOF1: Treacher Collins-Franceschetti sendromu 1

Hastalıklar

Kromozom 5 üzerinde bulunan genlerin yol açtığı hastalıklardan bazıları şöyledir;

  • Akondrogenezis tip 1B
  • Atelosteogenezis tip II
  • Cockayne sendromu
  • Cornelia de Lange sendromu
  • Diastrofik displazi
  • Ehlers-Danlos sendromu
  • Ehlers-Danlos sendromu, dermatosparaksis tip
  • Ailesel adenomatous polypozis
  • GM2-gangliosidozis, AB varyasyonu
  • Homosistinuria
  • 3-Metilkrotonil-CoA karboksilaz eksikliği
  • Parkinson hastalığı
  • Ane karnitin eksikliği
  • Çekinik multipl epifizal displazi
  • Sandhoff hastalığı
  • Spinal müsküler atrofi
  • Treacher Collins sendromu
  • Usher sendromu
  • Usher sendromu tip II

Düzensizlikleri

Bu kromozom düzensizliklerinin en çok bilineni ve üzerinde en çok durulanı 5p monozomisidir. ilk defa 1963 yılında Lejeune ve arkadaşları tarafından tanımlanmış olan 5p delesyonu ile ortaya çıkan ve Cri du Chat denilen bir sendromda en tipik bulgu kedi miyavlamasını andıran ağlamadır. Larinksin küçük ve yumuşak oluşu, ses bantlarının hatalı gelişmesinden kaynaklanır. Mikrosefali ve ileri derecede zeka geriliği karakteristiktir. Cri du chat hastalar bebek yaşta öldükleri için bu hastalığı yeni döllere aktaramazlar. Bazen 5p parçası başka bir kromozoma resiprokal transloke olursa kişi normal gelişebilir, fakat taşıyıcıdır. Heterozigotik translokasyonda ise sendrom ortaya çıkar.

5p trizomisinde ise, kromozom kolu 12,13 veya 15. kromozomlara transloke olduğu zaman kısmi trizomi ortaya çıkabilmektedir. Mental gerilik, renal ve ürogenital bozukluklar, postnatal büyüme geriliği, konjenital kalp hastalıklarına rastlanır.

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