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Genetic's Flashcards

1
Q

What is DNA composed of?

A

phosphate on C5
Deoxyribose -5 carbon Sugar
nitrogenous bases (purines and Pyrmidines) on C1

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2
Q

Purine bases are…

A

Adenine and Guanine

5 sided linked to 6 sided structure

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3
Q

Pyrimidine bases are…

A

Thymine and Cytosine

6 sided structure

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4
Q

Adenine binds to

A

Thymine (or Uracin in RNA) with 2 hydrogen bonds

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5
Q

Guanine binds to

A

Cytosine with 3 hydrogen bonds

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6
Q

What direction does coding strand run in PCR?

A

5’ to 3’

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7
Q

DNA vd RNA

A

RNA contains a ribose sugar
Uracil replaces thymine
RNA is single stranded

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8
Q

What is an exon?

A

coding region of DNA that is transcribed into mRNA

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9
Q

What is an intron?

A

intervening regions that do not code for a protein and are removed when mRNA is produced

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10
Q

What is mitosis?

A

Process of nuclear division
Occurs in somatic cells
results in diploid cells = 2 copies of each chromosome

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11
Q

What is meoisos?

A

Occurs in gametes
results in haploid cells = one copy of each chromosome
homologous chromosomes undergo recombination = genetic diversity

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12
Q

What is mRNA?

A

mRNA is transported to the cytoplasm for protein translation

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13
Q

What is tRNA?

A

transfer RNA - carries the amino acid to ribosome during protein translation

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14
Q

What is rRNA?

A

Ribosomal RNA - site of protein synthesis

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15
Q

What is transcription?

A

DNA is transcribed to mRNA

base pairing occurs with anti-sense strand

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16
Q

What is translation?

A

Occurs on ribosome. tRNA transfers amino acid to match a 3 nucleotide sequence, called a codon, to form a protein

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17
Q

What is a SNP?

A

a single nucleotide polymorphism

change of single nucleotide base that changes the codon

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18
Q

Synonymous SNP

A

Change results in same amino acid

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19
Q

Missense

A

Change results in an Amino acid change

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20
Q

Non sense

A

Change results in in a STOP codon

21
Q

Hybrid

A

Crossing over of chromosome results in a new allele containing both portions of both original genes

22
Q

RFLP

A

restriction fragment length polymorphism
PCR product is digested with restriction enzymes that cut DNA at specific sequences
DNA fragments are separated by electorphoresis

23
Q

SS PCR

A

sequence specific PCR or allele specific
Primer is designed to only amplify one allele
a band is observed only if one allele is present
not ideal for high through put but useful for rarely found mutations such as Rh variants and Jk nulls
interpretation made by a technologist

24
Q

Luminex xMAP

A

uses color coded microspheres and flow cytometry

microspheres bind to specific and signal is produced and measured by flow cytometry

25
Progenika BloodChip and BioArray Bead-Chip
DNA is extracted>multiplex PCR>Elongation on bead>Bead chip analysis beads attached to slide and are color coded. probed attached to bead is specific for one allele and binds to nucleotide sequence of perfect match. A color photo is taken to ID location and specificity of each bead on the chip
26
Fyx
weak Fyb by serological testing
27
GATA
transcription factor turned off silences Fyb expression on RBC's but not tissues
28
Doa/Dob
can have weak antibodies not detected in ABS but hgb not rising after transfusion
29
V/VS
identification of r's varients which are VS+ and V- and have partial big C antigen . Serologically type C+ but make anti-C
30
Linkage disequilibrum
genes at closely linked loci tend to be inherited together. genes don't sort independently and have a prevalence different than expected Everytime Se gene so is Lu Lutheran.
31
Cross-over
Exchange of genetic material during meiosis = two new chromosomes. Occurs frequently in HLA system.
32
Recombination
observed new combination of traits different from those seen parents. Result of a cross-over
33
Lyonization
process by which all X is inactivated in females during the early stages of developement
34
XG gene
XG escapes inactivation and x-linked dominate | 89% of females and 66% of males are Xga positive
35
XK gene
XK gene encodes for Kx antigen lack of Kx antigen results in Mcleod phenotype XK is subject to x activation. X-linked recessive
36
Cis
alleles on the same chromosome
37
Trans
alleles on opposite chromosome
38
Position effect C/D
When Ce (r') is in trans to D (R2, R0) the D antigen expression is reduced
39
Kell(mod)
When Kp(a) is expressed, other Kell antigens are reduced because of cis modifier effect = Kell(mod)
40
KLF1
KLF1 on Chromosome 19 encodes for Kruppel-like factor. Heterozygosity for 1 of several nucleic acid changes in KLF1 causes dominate Lu(a-b-) phenotype = In(Lu) Lu(mod), P1, Inb, and AnWj.
41
GATA-1 gene
on X chromosome, changes are associated with X-linked type of Lu(mod) that initially presents as Lu(a-b-)
42
Regulator Rh null
RHAG on chromosome 6 is silenced. RHAG process RH associated glycoprotein that is required for Rh expression
43
Wr(b)
GPA is required for Wr(b) expression Wr(b) is high prevalent antigen in Diego blood system MNS null phenotype lacks Wrb. Wrb is encoded be DI gene and carried on band 3
44
Rh null
Rh null RBC's lack LW antigens., Fy5, and have reduced expression of U, S, s antigens
45
cM
the frequency of crossing over involving 2 genes on the same chromosome the great the distance the better chance of crossing over Genes on different chromosomes are never linked and cM distance is meaningless the centimorgan is equal to 1% chance that a marker at one genetic locus will be seperated from a marker at a second locus due to crossing over
46
Direct exclusion
Child has antigen that should have been given by father
47
Indirect exclusion
Child lacks antigen that should have been given by father
48
Paternity Index
chance that the alleged father is the biological father compared to a random man
49
DNA methods used in paternity testing
Tandemly repeated sequences in the the non-coding region of the DNA is different in every person. Variable tandem repeats (VNTR) or short term repeats (STR) can be measured by electrophoresis. Using 12 STR loci is guaranteed to be unique in every individual. Also used for monitoring chimerism in bone marrow and graft vs host disease in solid organ transplant

SBB (37 decks)

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