Genetic Diseases Inheritance and Chromosome Patterns Flashcards

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1
Q

Tuberous Sclerosis

A

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

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2
Q

Phenylketoruia

A

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

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3
Q

Pompe Disease

A

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

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4
Q

Jervell and Lang Nielson

A

AR

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5
Q

Retinoblastoma 1

A

AD mutation in RB1 13q14.2 loss of function

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6
Q

Myotonic Dystrophy 1

A

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

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7
Q

Pedred Syndrome

A

AR

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8
Q

Neurofibromatosis 1

A

AD Mutation in NF1 Ch17 Loss of function

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9
Q

Sandhoff

A

AR Mutation in HEXB on Ch5q13 loss of function

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10
Q

Fabry

A

X-Recessive Defect in GLA that makes alpha-galctosidase

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11
Q

Congenital Adrenal Hyperplasia

A

AR 21-Hydroxylase Deficiency Caused by CYP21A2 ch6

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12
Q

Hereditary Hemachromatosis

A

AR HFE Mutation in ch 6

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13
Q

Tay-Sachs

A

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

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14
Q

Hydophosphatemic Rickets

A

X-Dominant PHEX

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15
Q

Rett

A

X dominant MECP2 mutation

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16
Q

DiGeorge

A

AD 22q11.2 deletion syndrome

17
Q

Familia Hypercholesterolemia

A

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

18
Q

Waardenburg

A

AD

19
Q

Duchenne Muscular Dystrophy

A

X Recessive DMD mutation

20
Q

WAGR

A

Deletion on Ch11

21
Q

Polycystic Kidney Disnease

A

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

22
Q

HNPP

A

Autosomal Dominant PMP22 Deletion ch17 11.2 Loss of Function

23
Q

Cystic Fibrosis

A

AR Mutation in CFTR ch7

24
Q

Fragile X

A

X dominant FMRI 5’ UTR

25
Q

Charcot Marie Tooth Type 1A

A

Autosomal Dominant Duplication of PMP22 ch17 11.2 Gain of Function

26
Q

Osteogenesis Imperfecta Type 1

A

Autosomal Dominant COL1A1 17q21.33 Loss of Function

27
Q

Achondroplasia

A

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

28
Q

Sickle Cell

A

Autosomal Recessive Mutation in Beta Globin gene Ch 11

29
Q

Alpha1-antitrypsin Deficienty

A

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

30
Q

Usher Syndrome

A

AR

31
Q

Huntington’s Disease

A

AD CAG repeats in EXON of HTT Ch4

32
Q

Dosage Sensitive Sex Reversal

A

X recessive

33
Q

Hemophilia A

A

X Recessive Factor VIII

34
Q

Non-Syndromic Deafness

A

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

35
Q

AIS

A

X recessive

36
Q

Osteogenesis Imperfecta Type II, III, IV

A

Autosomal Dominant COL1A2 7q22.1 Novel Property Mutation

37
Q

Marfan Syndrome

A

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