Genetics Flashcards

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1
Q

dihybrid

A

a cross involving two different genes

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2
Q

linkage map

A

a map based on recombination frequencies

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3
Q

nondisjunction

A

when chromosomes do not separate correctly during cell division

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4
Q

duplication

A

mutation where extra chromosomal fragments attach to one of the sister chromatids of homologous chromosomes

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5
Q

pedigree

A

family tree that follows traits through generations

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6
Q

multiple alleles

A

genes that have more than 2 allelic forms

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7
Q

phenotype

A

how an organism looks

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8
Q

test cross

A

done to find out the genotype of an organism that shows the dominant phenotype (cross dominant organism with homozygous recessive)

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9
Q

particulate hypothesis

A

all alleles keep their own individual identities; when parents pass on traits, they keep their identities and do not blend together

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10
Q

SRY gene

A

gene on the Y chromosome that tells a zygote to develop into a male instead of a female

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11
Q

translocation

A

a piece of one chromosome breaks off and attaches to a non-homologous chromosome

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12
Q

fetoscopy

A

process to examine a fetus that uses a thin tube with a viewing scope inserted into the uterus

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13
Q

amniocentesis

A

process when a needle is inserted into the amniotic sac to remove some of the amniotic fluid; cells of the fetus are cultured and used to make a karyotype to look for genetic disorders

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14
Q

pleitropy

A

genes that affect more than one phenotypic character

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15
Q

cytological map

A

map of a chromosome that uses chromosomal banding patterns to determine the location of genes on the chromosome

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16
Q

chromosomal theory of inheritance

A

genes have a specific locus on the chromosomes and that chromosomes undergo segregation and independent assortment during meiosis

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17
Q

punnett square

A

tool used to help predict the genotypes and phenotypes of future generations

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18
Q

homozygous

A

another term for true-breeding; having two of the same alleles

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19
Q

blending hypothesis

A

genetic information from both parents mixes (does not retain its individual characteristics), and that over lots of generations we will get a uniform population

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20
Q

law of independent assortment

A

each pair of alleles segregates into gametes independently

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21
Q

x-inactivation

A

when, in females, one of the X chromosomes becomes almost totally inactive and turns into a barr body

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22
Q

monosomy

A

having one copy of a chromosome

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23
Q

genomic imprinting

A

when the phenotype of the gene depends on whether it came from the mom or dad

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24
Q

chorionic villis sampling

A

tube is put in through the cervix and some of the fetal tissue is suctioned out from the placenta; gives immediate results when looking for genetic disorders

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25
Q

dominant

A

in a heterozygote, this is the allele that is fully expressed in the phenotype

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26
Q

complete dominance

A

type of inheritance where if an organism has one copy of the dominant allele, the phenotype of that organism will be totally dominant

27
Q

barr body

A

when x-inactivation occurs, the x chromosome that becomes inactive turns into this

28
Q

monohybrid

A

cross with only one trait

29
Q

heterozygous

A

when an organism has a copy of each allele

30
Q

polygenic inheritance

A

when two or more genes affect one phenotype; usually represented by continuum of phenotypes; characters have an additive effect

31
Q

polyploidy

A

more than 2 complete chromosome sets

32
Q

aneuploidy

A

abnormal chromosome number

33
Q

ultrasound

A

non-evasive and looks for direct and major anatomical abnormalities

34
Q

mitochondrial dna

A

dna inherited only from the mother

35
Q

sex-linked

A

genes that are carried on the x or y chromosome

36
Q

hybridize

A

another term for cross pollinating

37
Q

law of segregation

A

encompasses 4 general ideas and says that 2 alleles for a character are packaged into separate gametes

38
Q

trisomy

A

having 3 copies of a chromosome instead of the normal 2

39
Q

deletion

A

when a piece of a chromosome is missing

40
Q

inversion

A

when a piece of a chromosome breaks off and then reattaches in the wrong orientation

41
Q

codominance

A

when 2 different alleles both have an impact on the phenotype

42
Q

recessive

A

the allele that gets hidden in a heterozygote; the parts that’s not expressed

43
Q

genotype

A

an organism’s genes

44
Q

crossing over

A

makes new combinations of linked genes during meiosis

45
Q

epistasis

A

a gene at one locus affects the expression of a gene at a second locus

46
Q

incomplete dominance

A

heterozygote produces a mix between both alleles

47
Q

true breeding

A

another term for homozygous

48
Q

down syndrome

A

aneuploid

most sexually undeveloped or sterile
due to nondisjunction during gamete production

49
Q

klinefelters

A

aneuploid - XXY

extra X in a male; trisomy 23
male sex organs but sterile
feminine characteristics
normal intelligence

50
Q

turners

A

aneuoploid - X0

one X; monosomy x (mono. 23)
phenotypically male; sterile
most have normal intelligence

51
Q

cri du chat

A

deletion

deletion in part of chromosome 5
mentally retarded, small head, unusual facial features
baby’s cry sounds like a distressed cat
infant or early childhood death

52
Q

chronoic myelogenous lukemia

A

translocation (between 22 and 9)

type of cancer of the blood

53
Q

prader-willi syndrome

A

imprinting

develops if receive allele from dad (del. in chromo 15)
mental retardation, obesity, short stature, small hands and feet

54
Q

fragile x syndrome

A

imprinting

abnormal x chromosome - tip hangs by thin thread of dna
more common when inherited from mother
mental retardation

55
Q

colorblindness

A

x-linked

red-greed vision

56
Q

hemophilia

A

sex-linked

absence of one or more clotting factors
blood clots form slowly –> prolonged bleeding

57
Q

duchenne muscular dystrophy

A

sex-linked

absence of x-linked gene for key muscle protein called dystrophin
progressive weakening of muscles, loss of coordination
rarely live past early 20s

58
Q

huntington’s disease

A

autosomal dominant

deterioration of nervous system
doesn’t show until mid to late 30s
leads to death

59
Q

tay-sachs

A

autosomal recessive

brain cells have defective enzyme - doesn’t metabolize lipids –> buildup causes brain not to function properly
death within several months

60
Q

PKU

A

autosomal recessive

cannot properly break down AA phenylalanine - accumulate toxic levels, cause mental retardation
strict diet, usually develop normally

61
Q

cystic fibrosis

A

autsomoal recessive

most common lethal genetic disease in US
high level of Cl- leads to buildup of mucus - leads to bacterial infections
immune system remains add to mucus

62
Q

sickle cell

A

autosomal recessive (demonstrates pleiotropy)

most common inherited disorders in African Americans
cause of sub of one amino acid in hemoglobin protein of red blood cells
oxygen low –> sickle cell hemoglobin molecules crystallize into rods
being carrier is beneficial - resistant to malaria

63
Q

achondroplasia

A

autosomal dominant

dwarfism
homozygous dominant = lethal
heterozygous = dwarf
homozygous recessive = normal height

64
Q

angelman syndrome

A

imprinting

develop if recessive allele from mom (del. in chromo 15)
spontaneous laughter, jerky movements, other motor/mental symptoms