Genetics Flashcards

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
dominant
in a heterozygote, this is the allele that is fully expressed in the phenotype
26
complete dominance
type of inheritance where if an organism has one copy of the dominant allele, the phenotype of that organism will be totally dominant
27
barr body
when x-inactivation occurs, the x chromosome that becomes inactive turns into this
28
monohybrid
cross with only one trait
29
heterozygous
when an organism has a copy of each allele
30
polygenic inheritance
when two or more genes affect one phenotype; usually represented by continuum of phenotypes; characters have an additive effect
31
polyploidy
more than 2 complete chromosome sets
32
aneuploidy
abnormal chromosome number
33
ultrasound
non-evasive and looks for direct and major anatomical abnormalities
34
mitochondrial dna
dna inherited only from the mother
35
sex-linked
genes that are carried on the x or y chromosome
36
hybridize
another term for cross pollinating
37
law of segregation
encompasses 4 general ideas and says that 2 alleles for a character are packaged into separate gametes
38
trisomy
having 3 copies of a chromosome instead of the normal 2
39
deletion
when a piece of a chromosome is missing
40
inversion
when a piece of a chromosome breaks off and then reattaches in the wrong orientation
41
codominance
when 2 different alleles both have an impact on the phenotype
42
recessive
the allele that gets hidden in a heterozygote; the parts that's not expressed
43
genotype
an organism's genes
44
crossing over
makes new combinations of linked genes during meiosis
45
epistasis
a gene at one locus affects the expression of a gene at a second locus
46
incomplete dominance
heterozygote produces a mix between both alleles
47
true breeding
another term for homozygous
48
down syndrome
aneuploid most sexually undeveloped or sterile due to nondisjunction during gamete production
49
klinefelters
aneuploid - XXY extra X in a male; trisomy 23 male sex organs but sterile feminine characteristics normal intelligence
50
turners
aneuoploid - X0 one X; monosomy x (mono. 23) phenotypically male; sterile most have normal intelligence
51
cri du chat
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
chronoic myelogenous lukemia
translocation (between 22 and 9) type of cancer of the blood
53
prader-willi syndrome
imprinting develops if receive allele from dad (del. in chromo 15) mental retardation, obesity, short stature, small hands and feet
54
fragile x syndrome
imprinting abnormal x chromosome - tip hangs by thin thread of dna more common when inherited from mother mental retardation
55
colorblindness
x-linked red-greed vision
56
hemophilia
sex-linked absence of one or more clotting factors blood clots form slowly --> prolonged bleeding
57
duchenne muscular dystrophy
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
huntington's disease
autosomal dominant deterioration of nervous system doesn't show until mid to late 30s leads to death
59
tay-sachs
autosomal recessive brain cells have defective enzyme - doesn't metabolize lipids --> buildup causes brain not to function properly death within several months
60
PKU
autosomal recessive cannot properly break down AA phenylalanine - accumulate toxic levels, cause mental retardation strict diet, usually develop normally
61
cystic fibrosis
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
sickle cell
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
achondroplasia
autosomal dominant dwarfism homozygous dominant = lethal heterozygous = dwarf homozygous recessive = normal height
64
angelman syndrome
imprinting develop if recessive allele from mom (del. in chromo 15) spontaneous laughter, jerky movements, other motor/mental symptoms