Biochem Winter Genetic Diseases List

Front 1

Name the gene, type of mutation, inheritance, and perhaps characteristics of hemophilia B

Back 1

coagulation factor IX

Point mutation

X-linked recessive

Front 2

Name the gene, type of mutation, inheritance, and perhaps characteristics of hemophilia A

Back 2

coagulation factor VIII

X linked recessive

Front 3

Name the gene, type of mutation, inheritance, and perhaps characteristics of Tay-Sachs (un common)

Back 3

Hex A

Point mutation in splice site

(lysosomal storage disease, GM2 build up)

Front 4

Name the gene, type of mutation, inheritance, and perhaps characteristics of Sickle Cell Anemia

Back 4

B-globin

Missense point mutation

Front 5

Name the gene, type of mutation, inheritance, and perhaps characteristics of Neurofibromatosis type 1

Back 5

NF1

Nonsense point mutation

Autosomal Dominant

(shows variable expression, 50% de novo)

Front 6

Name the gene, type of mutation, inheritance, and perhaps characteristics of B-thalassemia

Back 6

B-globin gene

several types of point mutation

Front 7

Name the gene, type of mutation, inheritance, and perhaps characteristics of Tay Sachs (common variant)

Back 7

HexA gene

4 base pair insertion

(GM2 build up)

Front 8

Name the gene, type of mutation, inheritance, and perhaps characteristics of Cystic Fibrosis

Back 8

CFTR receptor

3 base pair deletion

autosomal recessive

Front 9

Name the gene, type of mutation, inheritance, and perhaps characteristics of Red-Green Color Blindness

Back 9

Several genes for Opsin

Large deletion, from abbarent recombination

x-linked recessive

Front 10

Name the gene, type of mutation, inheritance, and perhaps characteristics of Alpha-Thalassemia

Back 10

alpha globin

abbarent recombination

Front 11

Name the gene, type of mutation, inheritance, and perhaps characteristics of Charcot-Marie-Tooth disease?

Back 11

Gene: PMP22

Abbarent recombination resulting in Large Insertion

(most common inherited neurological disorder)

Front 12

Name the gene, type of mutation, inheritance, and perhaps characteristics of Huntington Disease

Back 12

HD gene

caused by trinucleotide repeat expansion

Autosomal dominant

(shows anticipation)

Front 13

Name the gene, type of mutation, inheritance, and perhaps characteristics of Achondroplasia

Back 13

FGFR-3 gene

missense mutation

Autosomal Dominant (90% de novo)

Front 14

Name the gene, type of mutation, inheritance, and perhaps characteristics of Marfan Syndrome

Back 14

FBN1 gene

Autosomal dominant

(causes defect in fibrilin)
(pleitropy- manifests in different organ systems)

Front 15

Name the gene, type of mutation, inheritance, and perhaps characteristics of Familial Hypercholesterolemia

Back 15

LDL receptor

Loss of function mutation

Autosomal Dominant

(exhibits haploinsufficiency)

Front 16

Name the gene, type of mutation, inheritance, and perhaps characteristics of Hurler Syndrome

Back 16

gene for Alpha-L-iduronidase

Autosomal recessive

(lysosomal storage disease)

Front 17

Name the gene, type of mutation, inheritance, and perhaps characteristics of Hereditary Hemochromatosis

Back 17

HFE gene

Single missense mutation

Autosomal Recessive

(males more affected)

Front 18

Name the gene, type of mutation, inheritance, and perhaps characteristics of Anhidrotic Ectodermal dysplasia

Back 18

?

X-linked recessive

(can show as blotchy expression in women, due to lyon hypothesis)

Front 19

Name the gene, type of mutation, inheritance, and perhaps characteristics of Duchenne Muscular Dystrophy

Back 19

Dystrophin Gene

deletions/frame shifts

X linked Recessive

(becker, on the other hand, does not cause frame shifts)

Front 20

Name the gene, type of mutation, inheritance, and perhaps characteristics of Fragile X-syndrome

Back 20

FMR1

X linked Dominant

Trinucleotide repeat expansion

(shows anticipation)

Front 21

Name the gene, type of mutation, inheritance, and perhaps characteristics of Osteogenesis Imperfecti

Back 21

ColA1 gene or ColA2

shows germline mosicism

as well as heterogeneous disease (different genes produce same disease)

Front 22

Name the gene, type of mutation, inheritance, and perhaps characteristics of Retinoblastoma

Back 22

Autosomal Dominant

shows reducued penetrance

Front 23

Name the gene, type of mutation, inheritance, and perhaps characteristics of Myotonic Dystrophy

Back 23

DMPK

Trinucleotide repeat expansion

5-30, no symptoms
50-100 mild
100-2000 full blown AIDS!!

Front 24

Name the gene, type of mutation, inheritance, and perhaps characteristics of Prader-Willi

Back 24

SNRPN

deletion in chromosome 15

Inherited from father

(genomic imprinting)

Front 25

Name the gene, type of mutation, inheritance, and perhaps characteristics of Angelman

Back 25

UBE3A

deletion in chromosome 15

Inherited from mother

(genomic imprinting)

Front 26

Name the gene, type of mutation, inheritance, and perhaps characteristics of Pyloric Stenosis

Back 26

multifactorial disease

4X more common in males than in females

Front 27

Name the gene, type of mutation, inheritance, and perhaps characteristics of Downs Syndrome

Back 27

Trisomy 21: 47, XX/XY +21

extra 21 chromosome

95% nondisjunction

Front 28

Name the gene, type of mutation, inheritance, and perhaps characteristics of Edward Syndrome

Back 28

Trisomy 18: 47 XX/XY +18

extra 18 chromosome

95% nondisjunction

(most common chromosomal abnormality in still borns)

clenched first, overlapping fingers, omphalocele

Front 29

Name the gene, type of mutation, inheritance, and perhaps characteristics of Patau Syndrome

Back 29

Trisomy 13 47, XX/XY+13

Low survival

cleft palates

Front 30

Name the gene, type of mutation, inheritance, and perhaps characteristics of Turner Syndrome

Back 30

Monosomy X, 45, XO

short stature, webbed neck

15-20% of chromosomal abnormalities in spontaneous abortions

Front 31

Name the gene, type of mutation, inheritance, and perhaps characteristics of Klienfelter Syndrome

Back 31

47 XXY

Mostly 56% extra chromosome from mother

infertle males, tall stature with long arms and legs

Front 32

Name the gene, type of mutation, inheritance, and perhaps characteristics of XX males, XY females

Back 32

SRY- translocation

abberent recombination during synapsis