Genetic talk Flashcards

1
Q

each cell has how many chromosomes and is called what?

A

23 chromosome

Haploid

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2
Q

ovum & sperm undergo what process?

A

Meiosis

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3
Q

Sex cells only undergo what process?

A

meiosis

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4
Q

gametes are what?

A

male and female reproductive joins

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5
Q

mom & dad each provide what during meiosis?

A

provide one of the 2 chromosomes in each of the 23 pairs

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6
Q

zygote stage results from what happening?

A

fused gametes

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7
Q

after meiosis, how many chromosomes are present?

A

46 chromosomes

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8
Q

Karyotypes are ordered by what two components?

A

by blood and by cell

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9
Q

picture of chromosomes are called what?

A

karyotype

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10
Q

chromosomes 1-22 are called

A

autosomes “autosomal dominant”

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11
Q

give the sex chromosome

A

23rd chromosome

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12
Q

female Karyotype

A

XX

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13
Q

male Karyotype

A

XY

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14
Q

who determines the gender

A

male; depends on whether his sperm donates an X or a Y

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15
Q

give the chromosome shapes

A

rod-shaped

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16
Q

chromosomes are described as

A

bundle of DNA

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17
Q

chromosomes replicate during what process

A

mitosis

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18
Q

what are genes?

A

distinct portions (“cells DNA”) of chromosome”)

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19
Q

genetic blueprints

A

genes

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20
Q

control form & function of all body cells

A

genes

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21
Q

basic unit of genetic information

A

genes

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22
Q

genes are made up of

A

DNA segments

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23
Q

25,000 genes make up how many codes?

A

3 billion codes

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24
Q

each gene on 1 chromosome corresponds with

A

another gene on the chromosome mate (mom and dad)

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25
Q

additive

A

each gene makes an active, equal contribution

26
Q

dominant-recessive

A

dominant controls & hides the influence of the recessive

27
Q

everyone is a carrier of at least how many genes that could produced serious defects/diseases in kids

A

at least 20

28
Q

give the meaning of congenital

A

present at birth/may or may not be genetic

29
Q

give the meaning of inherited

A

genetically passed on

30
Q

give the 3 types of Disorders

A
chromosomal; "Karyotypes"
single gene (mendelian; a/t/g/c)
polygenic/multifactorial (genes & environment combined
31
Q

what process ends with a duplicate number?

A

mitosis

32
Q

nature means it has what effect?

A

genetic effect

33
Q

give the process of mitosis

A

pairs of chromosomes separate to the ends of the cells, then replicate themselves & the cell splits

34
Q

each cell has how many chromosomes in each cell after mitosis?

A

46 chromosomes

35
Q

after mitosis, what is the number called?

A

diploid number (duplicates)

36
Q

give the end result of mitosis

A

1 cell becomes 2 with the exact same # and type of chromosomes

37
Q

explain meiosis

A
pairs of chromosomes separate to ends of cells
cell split
each cell has 23 chromosomes
this only occurs with sex cells
haploid=half
so the zygote will end up with 46
38
Q

autosomal non-disjunction (name all 3)

A
Patau's syndrome(trisomy 13)
trisomy 18 (edwards)
trisomy 21 (down)
39
Q

what all is present with Patau’s Syndrome?

A
cleft lip
cleft palate
decreased muscle tone
heart defects
polydactyl
small eyes
40
Q

describe trisomy 13

A

there are 3 #13 chromosomes

41
Q

whats evident in edwards syndrome?

A
heart defect
kidney defect
small head & jaw
low set ears
hernias
club feet
rocker bottom feet
no long lifespan
42
Q

describe turners syndrom

A

only has one X

43
Q

physical about turners

A

short/thick neck
heart defects
infertility

44
Q

sex chromosome non-disjunctions include what two disorders?

A

turners & kleinfelter’s syndromes

45
Q

describe kleinfelter’s

A

trisomy male XXY

46
Q

physical in kleinfelters

A
delayed speech & language
tall
infertile
intellectual disabilities
large breasts
hips larger
47
Q

TX in kleinfelters

A

testosterone

48
Q

TX in turners

A

supply estrogen

49
Q

describe translocation

A

structural error

1 chromosome or part of 1 chromosome attaches to another

50
Q

causes of translocation

A

deleted chromosome or (part/entire) or added in as extra

51
Q

translocation commonly seen with

A

21 chromosome “trisomy”

cri du chat #5

52
Q

whats evident in Cri du Chat?

A

arm deleted

53
Q

increased r/o inheritance in siblings with what disorder?

A

translocation

54
Q

physical-Cri du Chat

A

infants cry-distinct (larynx not developed correctly
small at birth
small head & jaw
small chin
intellectual disabilities (moderate to severe)
weak muscle tone
LBW
low set ears
wide-spaced eyes
if there is no organ dysfunction, the infant can have a NL lifespan

55
Q

single pair of genes are called

A

alleles

56
Q

single gene disorder describe

A

with one gene on a chromosome px

57
Q

on every pair of chromosomes there are how many forms of each gene?

A

2 forms of each gene

58
Q

governs traits/may take alternate forms

A

alleles

59
Q

alleles represent what in the body?

A

hair/eye color

60
Q

underlying combo of genetic material

A

genotype

61
Q

observable expression

A

phenotype