Kromozom Biyolojisi 8
Transcript of Kromozom Biyolojisi 8
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Kromozom Yapı Değişimleri
Large P-element insertion
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Fare kromozomları insan kromozomlarının 170 parçaya kırılması ile oluşturulabiliyor.
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Delesyon
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Delesyon heterozigot halde fenotipi değiştirebilir.
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Delesyonlu kromozomların eşleşmesi
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Mayozda eşleşme
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Genetik haritalamada delesyonların kullanımı
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Delesyon haritalamasında moleküler yöntemler de kullanılabilir (in situ melezleme).
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delesyon haritalamasında Southern blot
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Duplikasyonlar
DNA replikasyonu sırasında Homolog olmayan krossin over’ler
Mayozda Kromozom eşleşmesi
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Gen aileleri örn. Hemoglobin genleri duplikasyonla oluşur.
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İnversiyon
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Inversiyon loopü
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Reciprokal translokasyons
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Robertsonian translokasyonu
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(no E, F) (no S, T)
(normal)
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Translokasyonlu Down
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Transpospozisyon: Küçük DNA parçalarının hareketi
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copia TE
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Transposable elementler
1. 50-10,000 bp2. Kopya sayısı 1 den 100e ve 1000e kadar değişir3. Memelilerde TEs: LINES (L1) ve SINES (Alu)
Genom içersinde hareket edebilen DNA parçaları
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300,000 kopya
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Retrovirus (RNA tümor virüsü)
Retroposonlar: RNA ara moleküllerinin transkripsiyonu ile oluşurlar.
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Transpozonlar
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Nondisjunction in meiotic recombination results in aneuploidy
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X w+m+ X w-m- X w-m- O
XX XO
Male-specific
White eye
Minute wing
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Fig. 13.30a
mitosis
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Fig. 13.31
8X 2X
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X inactivationLimited fertility
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Fig. 13.34
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“Accessory”, “supernumerary”, “additional” kromozomlar, “selfish genetic elements”
Normal kromozom yapısı “A”
- küçük
-Bitkiler ve hayvanlar aleminde çeşitli sayılarda
-1300 den fazla bitkide- 500 hayvanda-çeşitli mantarlarda
-genetik olarak in aktif, gelişim için elzem değil, çok az bazen de hiç fenotipik etkisi
-Yaşamsal değil, bir tür içersinde bazı bireylerde oluşur
- Gametogenez sırasında veya sonrasında oluşur
“B” kromozomları
“B” Kromozomları
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Bazı organizmalarda:
-heterokromatik görünümde (koyu boyanır)
-telomerik ve sentromerik heterochromatin bölgelerinde açık boyanır.Çavdar, mısır; akrosentrik
Parazitik eşek arısında; submetasentrik
Allium cernuum; metasentrik
Her hücrede bulunmaz
Mitotik aktif somatik ve germ hücrelerinde rastlanır
Triticum tripsacoides : B kromozomu kök ucu hücrelerinde yok, fakat present polen anahücrelerinde var.
Crepis capillaris : 2 B kök ucu vegetatif hücrelerde
4 B Germ hücrelerinde
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-işlevsel rRNA genleri(NOR lokus)taşırlar
-A kromozomlarının eşleşmesini -Kiasma oluşumunu
-genetik rekombinasyonu etkilerler
- Gen anlatımı DNA metilasyonu ile ilişkilidir.