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Board Review 2024 > Common carrier frequencies > Flashcards

Common carrier frequencies Flashcards

1
Q

What is the carrier frequency for nonketotic hyperglycemia in the Canadian (British Columbia) pop

A

1 in 125

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2
Q

What is the general pop carrier frequency for biotinidase deficiency

A

1 in 120

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3
Q

What is the Romani pop carrier frequency for galactokinase deficiency

A

1 in 47

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4
Q

What is the Ashkenazi Jewish pop carrier frequency for galactosemia

A

1 in 40

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5
Q

What is the general pop frequency for galactosemia

A

1 in 125

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6
Q

What is the Ashkenazi Jewish pop carrier frequency for glycogen storage dz type 1

A

1 in 71

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7
Q

What is the Mediterranean population carrier frequency for beta thal

A

1 in 20

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8
Q

What is the Non-Hispanic white population carrier frequency for cystic fibrosis

A

1 in 25

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9
Q

What is the AJ population carrier frequency for cystic fibrosis

A

1 in 30

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10
Q

What is the Hispanic American population carrier frequency for cystic fibrosis

A

1 in 46

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11
Q

What is the AA population carrier frequency for cystic fibrosis

A

1 in 61

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12
Q

What is the Asian American population carrier frequency for cystic fibrosis

A

1 in 90

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13
Q

What is the general population carrier frequency for spinal muscular atrophy

A

1 in 40- 1 in 60

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14
Q

What is the general population carrier frequency for PKU

A

1 in 50

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15
Q

What is the AJ population carrier frequency for Canavan disease

A

1 in 40

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16
Q

What is the AJ population carrier frequency for Familial dysautonomia

A

1 in 30

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17
Q

What is the AJ population carrier frequency for Bloom syndrome

A

1 in 134

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18
Q

What is the AJ and French Canadian population carrier frequency for Tay sachs

A

1 in 30

19
Q

What is the AJ population carrier frequency for HBOC

A

1 in 40

20
Q

What is the general population carrier frequency for HBOC

A

1 in 400

21
Q

What is the AA population carrier frequency for Sickle cell dz

A

1 in 10

22
Q

What is the SE Asian and middle eastern population carrier frequency for alpha thal

A

1 in 20

23
Q

What is the carrier frequency for the common MCAD PV c.985A>G in the northern European population

A

1 in 40-100

24
Q

What is the carrier frequency for Gaucher dz in the AJ population

A

1 in 18

25
Q

What is the carrier frequency for infantile neurovisceral acid sphingomyelinase deficiency in the AJ population

A

1 in 80-100

26
Q

What is the AJ carrier frequency of Tay Sachs

A

1 in 30

27
Q

What is the general carrier frequency for metachromatic leukodystrophy

A

1 in 100-200

28
Q

What is the general carrier frequency for SLO

A

1 in 100 (~1%)

29
Q

What is the general population carrier frequency for Wilson dz

A

1 in 90

30
Q

What is the carrier frequency for ATM in the Druze population in northern Israel? Romani pop in Spain?

A

1 in 3- 1 in 15

1 in 36

31
Q

What is the carrier frequency for Nijmegen breakage syndrome in the Slavic population

A

1 in 155

32
Q

What is the French Canadian/Cajun population carrier frequency for cystic fibrosis

A

1 in 16

33
Q

What is the French Canadian/Cajun carrier frequency of Tay Sachs

A

1 in 30

34
Q

What is the Old Order Amish carrier frequency of familial hypercholesterolemia? South African AJ?

A

1 in 10
1 in 67

35
Q

What is the AJ carrier frequency of Joubert syndrome

A

1 in 100 for the TMEM216 founder variant p.Arg73Leu

36
Q

What is the carrier frequency for Friedrich ataxia

A

1 in 60-100

37
Q

Carrier frequency of SMA In the Arab pop

A

1 in 59

38
Q

Carrier frequency of SMA In the Asian pop

A

1 in 48

39
Q

Carrier frequency of SMA In the Asian Indian pop

A

1 in 71

40
Q

Carrier frequency of SMA In the Black pop

A

1 in 100

41
Q

Carrier frequency of SMA In the White pop

A

1 in 45

42
Q

Carrier frequency of SMA In the Hispanic pop

A

1 in 77

43
Q

Carrier frequency of SMA In the Jewish pop

A

1 in 56

Board Review 2024 (29 decks)

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