Genetics chromosomes Flashcards by Brooklyn Williams | Brainscape

Q

Cystic fibrosis

A

7q31.2
CFTR gene
AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Marfan syndrome

A

FBN1 Chr 15q21.1
FBN2 Chr 5q23.21
AD

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Ehler’s Danlos Classic (I/II)

A

COL5A1, COL5A2

AD

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Ehler’s Danlos Vascular (IV)

A

COL3A1

AD

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Kyphoscoliosis

A

Ehler’s Danlos type (VI)
Lysyl hydroxylase
AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Arthrochalasia

A

ED Type VIIa,b–> COL1A1, COL1A2

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Dermatosparaxis (VIIc)

A

ED Type VIIc–>procollagen N- peptidase

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Tay-Sachs Disease

A

alpha subunit on chromosome 15–>hexosaminidase A deficiency

AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Niemann-Pick disease

A

Chromosome 11p15.4

AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

DiGeorge syndrome

A

Chr 22q11.2 deletion

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Fragile X syndrome

A

FMR1 gene
CGG repeats
“chin, giant gonads”

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Huntington’s disease

A

huntingtin protein
Chr 4p16.3
AD
CAG repeats

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Prader-Willi syndrome

A

Chr 15, del (15)(q11.2q13)

paternal is deleted

How well did you know this?

1

Not at all

2

3

4

5

Perfectly