Pedigree Flashcards

(49 cards)

1
Q

What were the primary goals of the human genome project

A

Discover complete set of human genomes
Make info accessible to for further biological study
Determine the complete sequence of DNA bases in the human genime

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2
Q

What is a pedigree

A

Specialized chart or family tree that uses a particular set of standardized symbols

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3
Q

What symbolizes generations

A

Roman numerals

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4
Q

How many generations is typically included on a pedigree

A

3

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5
Q

What symbolizes birth order within each generation

A

Arabic numbers

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6
Q

What are the objective of a pedigree

A

CAN FREQUENTLY RULE OUT BUT NOT PROVE CERTAIN MODE OF INHERITANCE

To show and analyze history of inherited traits through generations in a family

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7
Q

what are pedigrees helpful with

A

providing concise and accurate records of families
in following and diagnosing heritable traits (disease and medical conditions) by describing patterns or modes of inheritance
useful in mapping (locating and isolating) genes that are responsible for certain traits

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8
Q

what info needs included on a pedigree

A

proband
race/ethnicity
first name or initials of relatives (or generation-individual numbers can be used for confidentiality)
affected status for each indiv in pedigree
age of family members or death date (& cause)
adoption status
pregnancy/abortion (spontaneous)
consanguinity
marriage/divorce
date pedigree obtained
key to shading symbols

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9
Q

what is consanguinity

A

mating with close relatives

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10
Q

what is a spontaneous abortion

A

miscarriage

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11
Q

why is it important to include race/ethnicity?

A

certain conditions are linked to certain races and ethnicity

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12
Q

what is a proband

A

the person being studied
usually first person affected seeking medical help for possible genetic disorder

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13
Q

how do we note a proband

A

arrow with box or circle shaded accordingly

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14
Q

why is important to denote proband on pedigrees

A

in order to observe relationships bw individuals and establish patterns of inheritance

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15
Q

what are general guidelines to follow

A

start in middle of page
male to left and female partner to right w/ straight line connecting
siblings in birth order (oldest left youngest right)
use different shading to indicate multiple disorders or diseases
age
year of birth
year of death
pregnancy
alive and well

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16
Q

how are siblings connected

A

horizontal line above symbols with vertical lines connecting them

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17
Q

how are mates connected

A

straight line between them

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18
Q

same ancestor

A

consanguinity

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19
Q

how is consanguinity shown

A

mating connected by double straight lines

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20
Q

twins developing from single fertilized egg

A

monozygotic twin

21
Q

are monozygotic twins different genders

A

no, same gender
IDENTICAL

22
Q

How does monozygotic twins happen

A

b/c of splitting of zygote at any stage of development, even as early as the 2 cell stage
each zygote implants separaretly and has its own placenta and gestational sac

23
Q

what are dizygotic twins

A

develop from simultaneous shedding of 2 oocytes
their subsequent fertilization by 2 different sperms
no more similar than siblins
fraternal twins

24
Q

are fraternal off springs the same gender

A

NO
frathernal
always different genders

25
what is the symbol for male
square
26
symbol for female
circle
27
unspecified sex
rhombus
28
affected individuals
shaded
29
affected individuals with multiple disorders
shaded differently
30
obligate carrier
dot in the middle
31
proband
shaded and arrow
32
deceased
diagonal line
33
stillbirth
circle or square diag line SB w/ time (SB 23 wks)
34
spontaneous abortion symbol
triangle
35
termination of pregnancy
triangle with diag line
36
adoption
brackets with either square or circle
37
heterozygotes for autosomal trait
half shaded
38
pregnant
square circle or rhombus shape p inside wks pregnant under
39
marriage/mating
single line horizontally
40
divorce
diag line between two
41
consanguineous mating
two horiz lines
42
mono twins
lines upward in trangle
43
di twins
just two diag lines up
44
twins of unknown zygosity
question mark between diag lines
45
how do you explain individual in pedigree you are talking about
II-2 generation, location
46
no offspring
line down and then across
47
infertility
same as no offspring with double lines
48
How do you read II-3
second generation, 3rd offspring
49
do you have to use names?
NO you can use numbers to provide anonymity