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DNA - Genetic Diseases
Genetic Diseases
13
Science
Undergraduate 2
03/06/2013

Additional Science Flashcards

 


 

Cards

Term

Achondroplasia

Definition

Dwarfism - Most common form

 

4th Chromosome

 

Protein FGFR3

 

80% of cases are mutations

Term
Down Syndrome
Definition

3 copies of Chromosome 21

 

Phenotypic: small eyes/mouth, round face, single crease on hand.

 

Types: Nondisjunction (most common), Mosaicism (less extreme), Translocation (attaches to Chromosome 14, does not show in parent, will show in offspring if inherited)

Term
Turner Syndrome
Definition

Affects only girls.

 

Phenotypic: Only girls, cannot reproduce. 

 

Types: Monosomy (one X), Mosaicism (some cells XX some cells X), Y-Chromosome material (some Y genes located on the X-Chromosome)

Term
Cystic Fibrosis
Definition

Autosomal Recessive

C-T-T Deletion Chromosome 7

 

Phenotypic:  Salty skin, oftentimes cannot reproduce

 

Affects: Digestive system, lungs, reproductive tract

Term
Tay Sach's Disease
Definition

Chromosome 15

Autosomal Recessive

 

Usually die before age 5

Damage exists before birth

Term
Hemophilia
Definition

Uncontrolled bleeding

X-Linked Recessive

 

F8 coagulation or F9 coagulation

Term
Klinefelter Syndrome
Definition

Extra X (ex: XXY, XXXY, XXXXY)

Male Only

 

Phenotypic: Delayed puberty

 

Less Testosterone

Term
Duchene Muscular Dystrophy
Definition

Recessive X-Linked

 

Males affected only

 

Muscle weakness, delayed intellectual ability

Term
Marfan Syndrome
Definition

Chromosome 15 long arm

Autosomal Dominant

 

Phenotypic: Tall/Thin, nearsighted, detachment from retina, heart problems, WEAK AORTA

 

Protein FBN1 encodes for fibrillin-1: creates long structures that store growth hormones and release them at the wrong times.

Term
Huntington's Disease
Definition

Degeneration of nerve cells in brain

Duplication of CAG (30-40 duplications)

 

Protein is overused or overproduced. 

 

Genetic Anticipation (More duplication with each generation)

 

Depression/Suicide/Dance-like walk.  Worsens with age.

Term
Familial Hypocholestrol
Definition

Autosomal Dominant

Chromosome 19

 

Worse when homozygous.

 

Phenotypic:  Cholesterol not taken care of properly, builds up LDL, leaves cholesterol deposits

Term
Fragile X-Syndrome
Definition

Long Arm of X

X-Linked Dominant

Genetic Anticipation (CGG repeats)

 

The most common mental disability.

Fragile X Mental Retardation Protein

Term

Angelmann Syndrome

(Puppet Syndrome)

Definition

Chromosome 15 gene UBE3A

Inherited through mother.

 

Affects nervous system. Most cases are mutation.  Bad sleeping habits. Normal life expectancy. Seizures.

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