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Pato 4 Çocukluk Çağı ST > 2-2 > Flashcards

2-2 Flashcards

(22 cards)

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1
Q

OD geçişli genetik hastalıklar

A
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2
Q

OR geçişli genetik hastalıklar

A
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3
Q

X e bağlı geçen genetik hastalıklar

A
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4
Q

Hücre iskelet proteinlerinde bozuklukla karakterize hastalıklar

A
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5
Q

Reseptör proteinlerinde eksiklik olan genetik hastalık

A

Ailesel hiperkolesterolemi

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6
Q

Enzim defektleri olan genetik hastalıklar

A

Lizozomal depo hastalıkları
Glikojen depo hastalıkları

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7
Q

Kompleks multigenik kromozomal bozukluklar

A
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8
Q

Trinükleotid tekrarlı hastalıklar

A

Frajil X
Miyostonik distrofi
Friedrich ataksisi
Huntington hastalığı
Kennedy hastalığı
Haw riwer sendromu
Spinoserebellar ataksi tip 1,2,3,6,7

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9
Q

Frajil X

A

CGG tekrarı

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10
Q

Miyostonik distrofi

A

CTG tekrarı

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11
Q

Friedrich ataksisi tekrarı

A

GAA tekrarı

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12
Q

Huntington hastalığı

A

CAG tekrarı

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13
Q

Spinobulber musküler atrofi ( KENNEDY) hastalığı

A

CAG tekrarı

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14
Q

Dentatorubral- pallidoluysiyan atrofi ( Haw river sendromu )

A

CAG tekrarı

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15
Q

Spinoserebellar ataksi tip 1,2,3,6,7

A

CAG tekrarı

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16
Q

Mitokondriyal gen mutasyon hastalıkları

17
Q

Genetik imprinting hastalıkları

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A

Prader Willi sendromu

18
Q

Enzim proteinlerinin mutasyonu ile karakterize hastalıklar

19
Q

Fenilketonüride enzim eksikliği

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A

Fenilalanin hidroksilaz

20
Q

Çocukluk çağında HCC riskini en fazla artıran hastalık

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A

Herediter tirozinemi tip 1

21
Q

Alkaptonürideki enzim defekti

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A

Homogentisic asit oksidaz

22
Q

Galaktozemi enzim defekti

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A

Galaktoz 1 fosfat üridil transferaz (GALT)

Pato 4 Çocukluk Çağı ST (4 decks)

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