Grody Flashcards

1
Q

Amniocentesis

A
Invasive 
15th week (later than CVS)
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2
Q

Chorionic Villus Sampling (CVS)

A

Invasive
10-12th week
Does NOT detect neural tube defects

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3
Q

Fetal blood sampling (PUBS)

A

Invasive

used for sickle cell before but not just take sample of amniotic fluid

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4
Q

Fetal tissue biopsy

A

Invasive

used for muscular dystrophy before but used to see mutations in amniocytes

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5
Q

Which two sampling methods are not used anymore?

A

PUBS and fetal tissue biopsy

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6
Q

Pre-implantation genetic diagnosis

A

Used in IVF
Grow to 8 cell stage, take one cell out and run PCR
If mutation throw it out
Only implant healthy embryos

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7
Q

DMD genetics

A

Largest gene known

Deletions found in 2/3 of pts

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8
Q

Multiplex PCR

A

Detects deletions

Used to test for DMD

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9
Q

Cystic Fibrosis

A

Sx: abnormal secretions, chronic pulmonary disease
Screening: microarray of 16 mutations
Genetics: deltaF508 (deletion of phenylalanine at codon 508); autosomal recessive

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10
Q

What do BRCA1 and 2 do normally?

A

help repair damaged DNA or destroy cells if DNA cannot be repaired

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11
Q

How do BRCA1 and 2 increase risk for breast and ovarian cancer?

A

20% by age 40
50% by age 50
87% by age 70

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12
Q

BRCA genetics and screening

A

Genetics: autosomal dominant
Screening: DNA screening gold standard

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13
Q

Possible results of BRCA DNA screening?

A

Positive: proceed w/tx
No mutation: mutation previously identified or no known mutation
Identified mutation has uncertain clinical sig: further testing needed

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14
Q

Why are southern blots used for tri-nucleotide repeat disorders?

A

Because the product is too big to show up on PCR

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15
Q

Full mutation for Fragile X

A

200-1000 repeats

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16
Q

Pre-mutation for Fragile X

A

52-200 repeats

17
Q

What are some late-onset sxs in male and female carriers of Fragile X?

A

Males: late onset tremor-ataxia-dementia syndrome
Females: premature ovarian failure

18
Q

What are some markers used in genetic testing?

A

Restriction fragment length polymorphisms (RFLP)
Variable number tandem repeats (VNTR)
Short tandem repeats (STR)
Single nucleotide polymorphisms (SNP)

19
Q

How is paternity testing done?

A

check SNPs on gel to see if match to mom or dad

20
Q

What are some DNA fingerprinting applications?

A
Paternity testing
Establishing zygosity of twins
Establishing identity of rapists
Bone marrow transplant determinant
Pedigree analysis of an animal
21
Q

What is free fetal DNA?

A

a new screening test that indicates if a woman is at increased risk of having a fetus w/Down syndrome
blood sample taken after 10 weeks of pregnancy