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AUDE 5310 Embryology & Genetic Conditions > Pedigree > Flashcards

Pedigree Flashcards

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
Q

what is the symbol for male

A

square

26
Q

symbol for female

A

circle

27
Q

unspecified sex

A

rhombus

28
Q

affected individuals

A

shaded

29
Q

affected individuals with multiple disorders

A

shaded differently

30
Q

obligate carrier

A

dot in the middle

31
Q

proband

A

shaded and arrow

32
Q

deceased

A

diagonal line

33
Q

stillbirth

A

circle or square
diag line
SB w/ time (SB 23 wks)

34
Q

spontaneous abortion symbol

A

triangle

35
Q

termination of pregnancy

A

triangle with diag line

36
Q

adoption

A

brackets with either square or circle

37
Q

heterozygotes for autosomal trait

A

half shaded

38
Q

pregnant

A

square circle or rhombus shape
p inside
wks pregnant under

39
Q

marriage/mating

A

single line horizontally

40
Q

divorce

A

diag line between two

41
Q

consanguineous mating

A

two horiz lines

42
Q

mono twins

A

lines upward in trangle

43
Q

di twins

A

just two diag lines up

44
Q

twins of unknown zygosity

A

question mark between diag lines

45
Q

how do you explain individual in pedigree you are talking about

A

II-2
generation, location

46
Q

no offspring

A

line down and then across

47
Q

infertility

A

same as no offspring with double lines

48
Q

How do you read II-3

A

second generation, 3rd offspring

49
Q

do you have to use names?

A

NO
you can use numbers to provide anonymity

AUDE 5310 Embryology & Genetic Conditions (18 decks)

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