Genetic Disorder Flashcards by King Asuncion

Q

Glycine is coded for Valine will cause what kind of sickness

A

sickle cell anemia

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Q

Example of non coding sequences mutation

A

Thalassemia

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Q

fragile x syndrome has what gene

A

FMNR 1

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Q

Example of variable expressivity

A

Neurofibromatosis

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Q

An example of gain of function mutation

A

Huntington disease

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Q

Polycystic kidney disease

A

Autosomal dominant

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Q

Complete penetrance is common

A

Autosomal recessive

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Q

Enzyme defects accumulation of subtrates example

A

Lysosomal storage disease

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Q

Enzyme defect in metabolic block with decreased end product

A

Lesch Nyhan

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Q

Absence of a regulatory component

A

Alpha 1 antitrypsin

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Q

What anti malarial drug causes hemolytic anemia

A

Primaquine

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Q

Marfan syndrome

A

Fibrilin 1

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Q

CVS lesion in Marfan Syndrome

A

Mitral prolapse

Dilation of the ascending aorta due to the cystic medionecrosis

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Q

EDS has what kind of defect

A

Collagen

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Q

Autosomal recessive defect of EDS

A

Kyphosis

Dermatosprarxaxis

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Q

This is the most frequent Mendelian disorder

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A

Familial hypercholesterolemia

Q

Impaired Autphagy

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A

Secondary accumulation

Q

Cherry red spot on fundoscopy

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A

Tay Sach Disease

Q

Zebra bodies in EM

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A

Neimann pick disease

Q

Crumpled paper appeared

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A

Gaucher’s disease

Q

MPS

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A

Hurler syndrome me

L-iduronidase def

Q

X linked MPS

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A

Hunter syndrome

Q

Has zebra bodies and balloon cells

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A

MPS

Q

Hepatic form of glycogen storage disease

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A

Von Gierke

Myopathic form of glycogen storage disease

Mcardle

Miscellaneous form

Pompe's disease

Trisnomy 18

Sdward's syndrome

Trisomy 13

Patau syndrome

One functional X Barr body

Lyon hypothesis

Paternally derived chromosome 15

Prader Willi

Maternally derived

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