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Boards.CP.Molecular > General,Renal,Cardiac,Endocrine > Flashcards

General,Renal,Cardiac,Endocrine Flashcards

-Molecular Biology -Techniques -Patterns of Inheritance -Renal Dz -Cardiac Dz -Endocrine Dz

1
Q

Function of Messenger RNA (mRNA).

A

Translates information in DNA into Amino Acid sequences (PROTEINS)

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2
Q

Function of Ribosomal RNA (rRNA).

A

Structural and catalytic role in ribosomes

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3
Q

Function of MicroRNAs (miRNA).

A

Short fragments that regulate mRNA levels and therefore PROTEIN expression.

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4
Q

What 2 types of RNA make up heterogenous nuclear RNA (hnRNA)?

A

miRNA and mRNA

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5
Q

Function of Transfer RNA (tRNA).

A

Delivers specific Amino Acids to the ribosome for addition to a growing peptide chain.

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6
Q

What catalyzes the formation of a phosphodiester bone in 5’ to 3’ direction?

A

Polymerase

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7
Q

What catalyzes the formation of the phosphodiester bonds between adjacent ends of nucleotide chain?

A

Ligase

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8
Q

What catalyzes cleavage of phosphodiester bonds?

A

Nuclease

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9
Q

Which nucleotide is most often methylated in silenced DNA?

A

Cytosine

  • Methylation of nucleotides affects cytosine moieties located within cytosine-phosphate-guanine (CpG) islands, This results in decreased DNA transcription in adjacent genes.
  • The degree of silencing correlates with the number of methylated nucleotides.
  • Forms the bases for IMPRINTING
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10
Q

Histone Acetylation function.

A

“loosens” the histone -> INCREASED DNA transcription.

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11
Q

What occurs in the S phase of cell cycle?

A

DNA replication

*Is “semiconservative”

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12
Q

What unwinds the double helix in S phase?

A
  • DNA helicase

- DNA topoisomerase

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13
Q

When does Nondisjunction most commonly occur?

A

Meiosis I, but can occur during Meiosis II and results in aneuploidy

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14
Q

What is a polymorphism?

A

Mutation that is not deleterious and is present in AT LEAST 1% of population.

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15
Q

What are the 5 classes of mutations?

A
  • Point mutations
  • Insertion mutations
  • Deletion mutations
  • Inversions
  • Translocations
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16
Q

What are the 5 sublasses of a Point Mutation?

A
  • Nonsense
  • Missense
  • Silent
  • Splice
  • Frameshift
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17
Q

Define Nonsense mutation.

A

Changes codon into a STOP CODON -> Premature truncation of translation.

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18
Q

Define Missense mutation.

A

Changes in AA sequence

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19
Q

Define Silent mutation.

A

Change in the Nucleic Acid sequence but does NOT result in the production of a stop codon or different AA.

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20
Q

Define Splice mutation.

A

Affects the mRNA splice site

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21
Q

Define Frameshift mutations.

A

Change in the reading frame of the ribosome in translation.

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22
Q

What is the structure of nucleosome?

A

Octamer of positively charged histone proteins.
-2 each of H2A, H2B, H3, H4

Wrapped around this is 146 bases of DNA (which has negative charge)

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23
Q

Each nucleosome is linked to the next by what?

A

H1 (linker histone)

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24
Q

What is the shortest chromosome?

A

21

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25
Q

How are chromosomes classified?

A

by the location of the Centromere

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26
Q

In Karyotyping, dividing cells are arrested in what phase of mitosis?

A

Metaphase

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27
Q

In G banding (Karyotyping), which areas stain more intensely (A-T rich or G-C rich)?

A

A-T rich

28
Q

How can purity of DNA be assessed, and what ratio is considered to be relatively pure?

A
  • Ratio of absorbance at 260 nm to 280 nm

- <1.8 is relatively pure

29
Q

Southern Blot

A

DNA

30
Q

Northern Blot

A

RNA

31
Q

Western Blot

A

Protein

32
Q

What inheritance pattern affects males and females equally and often skips a generation?

A

Autosomal Recessive

33
Q

Triad of Alport syndrome. (typical presenting symptom)

A
  • Glomerulonephritis
  • Sensorineural Hearing loss
  • Ocular lesions

(asymptomatic hematuria)

34
Q

What is inheritance pattern in Alport syndrome?

A

X-linked recessive

carrier females often manifest asymptomatic hematuri

35
Q

Mutation in Alport syndrome?

A

COL4A5 gene on Xp22.3

encodes a5 chain on type IV collagen

36
Q

Autosomal Dominant disorders generally involve genes that encode for what type of proteins?

A
  • Structural proteins
  • Receptor proteins
  • Transmembrane proteins
37
Q

Autosomal Recessive disorders generally involve genes that encode for what?

A

Enzymes

38
Q

Mutation in Autosomal Recessive Polycystic Kidney Disease (ARPKD).

A

PKHD1 gene on chr6p

39
Q

ARPKD manifestations.

A

Manifest in utero

  • oligohydramnios
  • pulmonary hypoplasia
40
Q

Autosomal Dominant Polycystic Disease (ADPKD) MC mutation.

A

PKD1 on chr16p13 (85%) (1:500 live births)

*100% penetrance by age 50

41
Q

What are the typical presenting symptoms in ADPKD?

A
  • Hypertension

- Isothenuria

42
Q

Other manifestations associated with ADPKD?

A
  • Hepatic involvement
  • Mitral Valve Prolapse
  • Pancreatic cysts
  • Intracranial Berry aneuryms
43
Q

Inheritance in Cystic Renal Dysplasia (aka Multicystic Dysplastic Kidney).

A 
A noninherited (SPORADIC) disorder
-may result from in utero ureteral obstruction
44
Q

What syndrome is associated with Cystic Renal Dysplasia?

A

Meckel-Gruber syndrome

45
Q

Features of Meckel-Gruber Syndrome

A
  • Kidney disease
  • polydactyl
  • occipital encephalocele
46
Q

Gene involved in X-linked Dilated cardiomyopathy.

A

Dystrophin gene (same in Dechenne and Becker muscular dystrophy)

47
Q

MC gene involved in AD Dilated Cardiomyopathy.

A

MYH7 gene

-Beta-myosin Heavy chain

48
Q

Inheritance and Gene involved in Hypertrophic Cardiomyopathy.

A
  • Autosomal Dominant

- MYH7 gene

49
Q

MC mutation in Hypertrophic Cardiomyopathy

A

R403Q on MYH7

50
Q

Noonan syndrome gene mutation.

A

PTPN11 (single gene mutation)

51
Q

Noonan syndrome features.

A

Right sided Heart defects:

  • Pulmonary Stenosis (MC)
  • Hypertrophic cardiomyopathy (2nd MC)
52
Q

Alagille syndrome gene mutation.

A

JAG1 (single gene mutation)

-Autosomal Dominant

53
Q

Alagille syndrome features.

A 
Alagille syndrome (AKA arteriohepatic dysplasia)
-Bile Duct paucity 
Also effects blood vessels and heart
-Pulmonary artery stenosis
-Tetralogy, ASD, VSD, AS, coarctation
54
Q

Turner syndrome MC heart defect.

A

-Bicuspid Aortic Valve

2nd MC: Coarctation

55
Q

Which steroid is elevated (serum) in ALL forms of Congenital Adrenal Hyperplasia (CAH)?

A

17-Hydroxyprogesterone (17-OHP)

56
Q

What is the MCC of Congenital Adrenal Hyperplasia?

A

21-hydroxylase deficiency

57
Q

What gene encodes 21-hydroxylase?

A

CYP21 on chr16 within HLA locus

58
Q

What is the 2nd MCC of CAH?

A

11-hydroxylase deficiency (North African Jews)

59
Q

What gene and chromosome is ass. w/ Androgen Insensitivity Syndrome?

A
  • Androgen Receptor
  • X chromosome

(X-linked recessive disorder that affects genotypic males (46XY))

60
Q

What gene influences the genital primordium to develop into Testes?

A

SRY gene on Y chromosome

61
Q

Kallman syndrome features.

A
  • Hypogonadotropic hypogonadism

- Anosmia

62
Q

Kallman syndrome mutation and MC hormane deficiency.

A
  • KAL1 gene on Xp22.3

- Growth Hormone deficiency

63
Q

McCune-Albright Syndrome gene mutation.

A

GNAS1 (gain of function mutation)

64
Q

T/F: McCune-Albright syndrome are somatic mosaics.

A

True

-Germline mutation incompatible with life

65
Q

McCune-Albright syndrome features.

A
  • Fibrous Dysplasia
  • Cafe-au-lait spots
  • Precocious puberty
  • Endocrine abnormalities
66
Q

HLAs associated with DM1

A

HLA-DR3
HLA-DR4

  • heterozygotes (2-3X Risk)
  • homozygotes (10X Risk)

Boards.CP.Molecular (7 decks)

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