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Genetics Flashcards

1
Q

Autosomal dominant

A

when someone is homozygous or heterozygous for the gene it is expressed because it is dominant. Pedigree pattern shows equal numbers of men and women and passed through every generation. Depending on parental phenotype (homozygous or heterozygous) could be passed to all children or ~50% of children

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2
Q

autosomal recessive

A

equal amounts of men and women. Need to be homozygous for the gene in order to express it, people that are heterozygous are considered carriers for the disease, do not present with the trait. This can skip generations- need to have a second parent with the trait in order to have homozygous child. Very rare in society not usually found in members inside of the family (because you need a parent with trait as well) except for other siblings.

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3
Q

X linked recessive

A

Men are mostly affected by this as they receive their X chromsome from their father. women tend to be carriers as they need to have two X chromosomes in order to be affected. Example: Mcleod phenotype (acanthocytes compensated hemolytic anemia) These are NEVER passed father to son- son only receives Y from father.

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4
Q

X linked dominant

A

women have a higher incidence of the trait because they have two opportunities of inheriting- though they pass down to all of their sons. These are NEVER passed father to son. Example= Xga

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5
Q

Connection between recombination and gene location

A

The closer two genes are together the higher the chance that they will stay together during recombination events and therefore be inherited together. The greater the distance the increased chance of recombination of the genes- that they will not be inherited together.

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6
Q

Linkage disequilibrium

A

two genes are linked therefore they are inherited together. The statistically probability they are both inherited might be smaller than what is actually seen due to their location on the gene and the fact that they get inherited together rather than independently. HLA genes: A1 B8

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7
Q

Fisher-Race theory

A

the idea that the Rh, C and E antigens come from three separate genes at the RH locus as opposed to two which is correct.

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8
Q

cis-modifier effect

A

Kpa+ expression of the other Kell system antigens is suppressed. they are on the same haplotype, weakens the expression.

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9
Q

null

A

person possesses allele however, allele is nonfunctional or creates a nondetectable product (different than a deletion)

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10
Q

what percentage of children from heterozygous parents will have autossomal recessive trait

A

25%

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11
Q

In blood group genetics what does recessive mean?

A

homozygous for rare phenotype: i.e. Rh null- no expression of Rh antigens

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12
Q

Two types of Rh null

A
  1. Regulator type RHAG - nucleotide changes in RHAG leads to Rh null- implying that RHAG has a large role in Rh antigen insertion into the RBC membrane 2.amorph- multiple mutations in RHCE gene and common deletion of RHD together.
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13
Q

Cepellini effect

A

When C is in Trans to RHD the RHD antigen is weakened in expression, occurs in r’ individuals with R on other haplotype

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14
Q

O blood type change

A

261 deletion of G that causes a frameshift and premature truncation that lacks enzymatically active domain of AorB.

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15
Q

genetic difference in A or B

A

three amino acid subsitutions 235 Gly>Ser 266 Leu>Met 268 Gly>Alan

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16
Q

i adult

A

i adult without cataracts, there is a dysfunction in the GCNT2 gene- only effects exon that controls protein on RBCs, i adult with cataracts mutations on or gene deletions of GCNT2 gene loss of I antigen synthesis throughout out the body.

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17
Q

RhD gene and RhCE

A

each has 10 exons, parallel to one another 97% same coding between the two, differ by 32-35 amino acids

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18
Q

Lack of RhCE

A

found in all but rare D- - individuals

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19
Q

gene

A

segment of DNA that encodes a protein

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20
Q

gene locus

A

location of gene

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21
Q

alleles

A

variations of a particular gene, for example Jka or Jkb

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22
Q

how many choromosomes in gametes

A

1N haploid- half the number of chromosomes than normal, 23. This is a because when it comes together with another gametes it forms the 46 chromosomes total needed to make another human

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23
Q

how many chromosomes are there

A

46-22 pairs of autosomes, 1 set of sex choromosomes

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24
Q

Karyotype

A

Xy or XX, JkaJka or JkaJkb, it’s the combination of two alleles together that create the presence or absence of certain phenotypes, listing of traits from each chromosome inherited

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25
Q

centromere

A

middle segment of chromosome, where joined

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26
Q

telomere

A

the ends of the chromosome

27
Q

What blood antigen group genes are present on chromsome 1

A

Rh, Duffy, Knops Cromer and scianna

28
Q

what chromosome is Diego on

A

17- gene SLC4A1

29
Q

somatic cells

A

diploid meaning carry 46 chromosomes in 23 pairs

30
Q

Lyonization

A

X inactivation, most genes on X chromosomes in females are inactivated, Xg- escapes lyonziation. Kx is subject to lyonization, - inactivation means that heterozygous women carriers for Kx can carry two different cell populations, some with normal K and some with Mcleoud phenotype.

31
Q

Dombrock chromosome and gene

A

chromosome 12 gene ART4

32
Q

LW chromosome and gene

A

chromosome 19 gene ICAM4

33
Q

OK chromosome

A

19

34
Q

JMH Chromosome

A

15

35
Q

Globoside blood group:

A

P antigen chromosome 22 gene B3GALNT1

36
Q

KEL02 is what antigen

A

k

37
Q

KEL01 is what antigen

A

K

38
Q

Gill chromome and gene

A

9 and AQP3

39
Q

RHAG antigens and chromosome

A

6 and Duclos, DSLK, Ola, RHAG4

40
Q

The last 6- in order- of the 36 blood groups

A
  1. Fors 32. JR. 33. Lan 34. Vel. 35 CD59 36 Augustine
41
Q

indian chromosome

A

11

42
Q

RAPH antigen

A

MER2

43
Q

consanguineaus

A

mating between blood relatives example: anti-PP1PK has higher rate in amish community

44
Q

what does a recessive trait mean in blood group genetics

A

the inheritance of two homozygous alleles that make null phenotype.

45
Q

what antibody can Lua-Lub- true null individual make?

A

Lutheran 3 antibody

46
Q

KLF1- chromosome and what is it

A

chromosome 19 and encodes erythroid Kruppel-Like factor ( a transcriptional factor essential for terminal differentiation of red cells)

47
Q

KLF1- relation to other blood group

A

heterozygosity for nucleotide changes in KLF1 is responsible for the dominant In(Lu-) phenotype Lua-Lub-

48
Q

Lu mod

A

decreased expression of lutheran antigens and P1, INb and ANWJ antigens

49
Q

GATA-1 relation to Lutheran

A

essential for erythroid and megakaryocyte differentiation, changes led to X-linked type of Lutheran Mod (Lua-Lub- looking phenotype)

50
Q

STR

A

short tandem repeat

51
Q

VNTR

A

variable number tandem repeat

52
Q

what was the first blood group assigned to a chromosome

A

Duffy- chromosome 1

53
Q

In genetic nomenclature what does ‘N’ stand for

A

Null

54
Q

S antigen mutation

A

48 Methonine

55
Q

S antigen mutation

A

48 Methionine

56
Q

SSP

A

sequence specific primer

57
Q

ASP

A

allele specific primer

58
Q

Direct exclusion

A

Child has a trait that should have come from father but father is negative

59
Q

Indirect exclusion

A

Child is lacking a trait that should have been passed down from father to child, but child is negative. This is tricky because father could be null or have an amorphic copy (looks like they are homozygous but they have one null copy that they are passing off to the child) therefore doesn’t directly exclude father, further testing may be needed to definitively rule in/out

60
Q

amorph

A

silent genes that do not produce a detectable antigen product- when two of these are present this makes a null

61
Q

What determines presence of particular trait on one cell surface but not another

A

DNA in nucleus of all cells is the same, whether the genes are turned on or off depends on the individual cell type

62
Q

Genotyping methods that are gel based- low resolution

A

Low Resolution: SSP PCR (known SNPs) PCR-RFLIP and High melt resolution analysis

63
Q

Medium resolution genotyping methods

A

immucor bead chip, grifols IDCore, Taqman, Single base extension (Maldi-TOF)

SBB (31 decks)

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