ch. 13 modern inheritance Flashcards

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1
Q

what is amniocentesis?

A

diagnosing genetic disorders in offspring during pregnancy using amniotic cells

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2
Q

what is chorionic villi sampling?

A

diagnosing genetic disorders in offspring during pregnancy using placental cells

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3
Q

what causes the most common form of hemophilia?

A

an x-linked recessive allele (heterozygous females are asymptomatic carriers)

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4
Q

who introduced hemophilia into a number of different european royal families?

A

queen victoria of england

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5
Q

what can genetic counseling use to determine the probability of genetic disorders in offspring?

A

pedigree analysis

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6
Q

what does hemophilia affect?

A

clotting of the blood/ an enzyme in the clotting cascade

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7
Q

what is an aneuploid?

A

an individual with an error in their chromosome number (including section deletions and duplications)

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8
Q

what is an autosome?

A

any non-sex chromosome

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9
Q

what is the centimorgan?

A

relative distance that corresponds to a 0.01 recombination theory

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10
Q

what is the chromosomal theory of inheritance?

A

theory proposing that chromosomes are the genes’ vehicles and that their behavior during meiosis is the physical basis of the inheritance patterns that mendel observed

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11
Q

what is chromosome inversion?

A

detachment, 180 degree rotation, and chromosome art reinsertion

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12
Q

what is an euploid?

A

individual with the appropriate number of chromosomes for their species

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13
Q

what is homologous recombination?

A

process where homologous chromosomes undergo reciprocal physical exchanges at their arms, also crossing over

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14
Q

what is a karyogram?

A

a karyotype‘s photographic image

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15
Q

what is a karyotype?

A

an individuals chromosome number and appearance (including size, banding patters, and centromere position)

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16
Q

what is a monosomy?

A

an otherwise diploid genotype in which one chromosome is missing

17
Q

what is nondisjunction?

A

failure of synapses homologs to completely separate and migrate to separate poles during the meiosis’ first cell division

18
Q

what is nonparental (recombinant) type?

A

offspring resulting from homologous recombination that exhibits a different allele combination compared with its parents

19
Q

what is paracentric inversion?

A

inversion that occurs outside the centromere

20
Q

what are parental types?

A

offspring that exhibits the same allelic combination as it s parents

21
Q

what is pericentric inversion?

A

inversion that involves the centromere

22
Q

what is a polyploid individual?

A

individual with an incorrect number of chromosome sets

23
Q

what is recombination frequency?

A

the average number of crossovers between two alleles (observed as the number of nonparental types in an offspring’s population)

24
Q

what is translocation?

A

process by which one chromosome segment dissociates and reattaches to a different, nonhomologous chromsome

25
Q

what is a trisomy genotype?

A

a genotype that is otherwise diploid except for where one entire chromosome duplicates

26
Q

what is x inactivation?

A

condensing X chromosomes into Barr bodies during embryonic development in females to compensate for the double genetic dose