Genetic Diseases Inheritance and Chromosome Patterns

Question 1

Tuberous Sclerosis

Answer 1

AD TSC1 9q34 and TSC2 16p13.3 Loss of function dis-regulation of growth factors

Question 2

Phenylketoruia

Answer 2

AR Mutation in phenylalanine hydroxylase (PAH) or BH4 2q22-q24.2 Loss of Function

Question 3

Pompe Disease

Answer 3

Autosomal Recessie Defect in GAA that makes acid alpha-glucosidase ch 17

Question 4

Jervell and Lang Nielson

Answer 4

AR

Question 5

Retinoblastoma 1

Answer 5

AD mutation in RB1 13q14.2 loss of function

Question 6

Myotonic Dystrophy 1

Answer 6

AD CTG repeats in 3’ UTR of DMPK gene of Ch19

Question 7

Pedred Syndrome

Answer 7

AR

Question 8

Neurofibromatosis 1

Answer 8

AD Mutation in NF1 Ch17 Loss of function

Question 9

Sandhoff

Answer 9

AR Mutation in HEXB on Ch5q13 loss of function

Question 10

Fabry

Answer 10

X-Recessive Defect in GLA that makes alpha-galctosidase

Question 11

Congenital Adrenal Hyperplasia

Answer 11

AR 21-Hydroxylase Deficiency Caused by CYP21A2 ch6

Question 12

Hereditary Hemachromatosis

Answer 12

AR HFE Mutation in ch 6

Question 13

Tay-Sachs

Answer 13

AR Mutation in HEXA on Ch.15q.24.1 loss of function

Question 14

Hydophosphatemic Rickets

Answer 14

X-Dominant PHEX

Question 15

Rett

Answer 15

X dominant MECP2 mutation

Question 16

DiGeorge

Answer 16

AD 22q11.2 deletion syndrome

Question 17

Familia Hypercholesterolemia

Answer 17

AD Mutation in LDLR protein in 19p13.2 Loss of function

Question 18

Waardenburg

Answer 18

AD

Question 19

Duchenne Muscular Dystrophy

Answer 19

X Recessive DMD mutation

Question 20

WAGR

Answer 20

Deletion on Ch11

Question 21

Polycystic Kidney Disnease

Answer 21

AD ADPKD-1 on 16p13.3 (85%)and ch4 (14.5%) Locus heterogeneity Loss of FUnction

Question 22

HNPP

Answer 22

Autosomal Dominant PMP22 Deletion ch17 11.2 Loss of Function

Question 23

Cystic Fibrosis

Answer 23

AR Mutation in CFTR ch7

Question 24

Fragile X

Answer 24

X dominant FMRI 5’ UTR

Question 25

Charcot Marie Tooth Type 1A

Answer 25

Autosomal Dominant Duplication of PMP22 ch17 11.2 Gain of Function

Question 26

Osteogenesis Imperfecta Type 1

Answer 26

Autosomal Dominant COL1A1 17q21.33 Loss of Function

Question 27

Achondroplasia

Answer 27

AD FGFR3 Glycine to Arginine 4p16.3 Gain of Function

Question 28

Sickle Cell

Answer 28

Autosomal Recessive Mutation in Beta Globin gene Ch 11

Question 29

Alpha1-antitrypsin Deficienty

Answer 29

AR mutation in Alpha1-antitrypsin or SERPIN Z allele (GLU to LYS accumulation in ER of Liver, Most sever) S allele: (GLU to VAL) unstable protein Loss of Function

Question 30

Usher Syndrome

Answer 30

AR

Question 31

Huntington’s Disease

Answer 31

AD CAG repeats in EXON of HTT Ch4

Question 32

Dosage Sensitive Sex Reversal

Answer 32

X recessive

Question 33

Hemophilia A

Answer 33

X Recessive Factor VIII

Question 34

Non-Syndromic Deafness

Answer 34

AD for progressive AR for congenital Mutation in GJB2 13q11-q12

Question 35

AIS

Answer 35

X recessive

Question 36

Osteogenesis Imperfecta Type II, III, IV

Answer 36

Autosomal Dominant COL1A2 7q22.1 Novel Property Mutation

Question 37

Marfan Syndrome

Answer 37

AD FMB-1 mutation on 15q21.1 Loss of Function