Mendelian Inheritance Flashcards

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1
Q

_____ _____ refers to the rather strict rules for inheritance of monogenic traits as first recognized by Gregor Mendel in the 19th century.

A

Mendelian inheritance

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2
Q

A _____ or single gene trait is one in which the expression is determined by the input of the two alleles of a single gene.

A

monogenic

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3
Q

Traits or structures that involve the input of more than one gene known as _____ traits.

A

polygenic

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4
Q

In _____ expression, the two gene alleles are expressed equally.

A

codominant

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5
Q

In _____ inheritance, the phenotype accurately expresses the genotype. Red flowers must have 2 red gene alleles (homogenous), pink flowers must have one red gene allele and one white gene allele (heterogenous), and white flowers must have two white gene alleles.

A

codominant

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6
Q

Specific inheritance patterns of a monogenic trait can be assessed without knowing a person’s genotype based on _____ _____.

A

family history

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7
Q

_____ is the term used to describe how a trait is inherited or passed from one human generation to the next.

A

Transmission

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8
Q

A _____ (sometimes termed a kinship) is the extended family relationships over several generations.

A

kindred

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9
Q

A _____ is a pictorial or graphic illustration of family members’ places within a kindred and their history for a specific trait or health problem over several generations.

A

pedigree

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10
Q

_____-_____ single gene traits have the controlling gene alleles located on an autosomal chromosome.

A

Autosomal-dominant

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11
Q

Autosomal-dominant traits are found in approximate _____ distribution between male and female family members.

A

equal

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12
Q

True or false:

An autosomal-dominant trait has a carrier status.

A

False

the person with even one dominant allele expresses the trait

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13
Q

The autosomal-dominant trait appears in _____ generation with clear transmission from _____ to child.

A
  1. every

2. parent

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14
Q

The risk for an affected person with an autosomal-dominant trait who is heterozygous for the dominant allele to pass the trait to his or her child is _____%.

A

50

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15
Q

The risk for an affected person with an autosomal-dominant trait who is homozygous for the dominant allele to pass the trait to his or her child is _____%.

A

100

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16
Q

Unaffected people do _____ have the autosomal-dominant allele and have essentially _____ (#) risk for transmitting the trait to their children.

A
  1. not

2. zero

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17
Q

A person can be homozygous for the dominant alleles of a normal trait, but not for health disorders because with these disorders, the homozygous autosomal-dominant genotype appears _____, with loss at the embryonic or fetal pregnancy stages or within the first _____ (#) months after birth. This distinction slightly changes the predictability of the disorder.

A
  1. lethal

2. 12

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18
Q

Two factors that affect the expression of some autosomal-dominant single gene traits are _____ and _____.

A
  1. penetrance

2. expressivity

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19
Q

_____ is how often a gene is expressed within a population when it is present.

A

Penetrance

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20
Q

The higher degree of _____ of an AD trait, the higher the risk for a person to develop the disease.

A

penetrance

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21
Q

_____ is a personal issue (rather than a population issue) in which the degree of gene expression varies by the person who has the dominant gene for a health problem.

A

Expressivity

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22
Q

The gene is _____ expressed, but some people have more severe problems than do other people.

A

always

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23
Q

A person with low expression of a gene trait can transmit the gene to his or her child who then may have _____ expression of the disorder. The reverse is also true.

A

high

24
Q

_____-_____ (AR) traits have the controlling gene alleles on an autosomal chromosome are are expressed _____ when both alleles are present.

A
  1. Autosomal-recessive

2. only

25
Q

An AR trait is found in approximate _____ distribution between male and female family members.

A

equal

26
Q

An AR trait often appears first in _____ rather than in the _____ of affected children.

A
  1. siblings

2. parents

27
Q

An AR trait my not appear in _____ generations of any one branch of a family.

A

all

28
Q

The risk for children of two affected parents with an AR trait to also be affected is close to _____%.

A

100

29
Q

About _____% of the members of a family with an AR trait will express the trait or disorder.

A

25

30
Q

True or False:
AR traits do have a carrier status in which those individuals who have only one affected allele may not express any level of the trait.

A

True

31
Q

Unaffected carriers of AR traits _____ transmit the trait to their children if their partner is either a carrier or is affected.

A

can

32
Q

An AR allele may be present in a family for many generations without overt _____.

A

expression

33
Q

The phenotype and _____ are the same for expressed AR traits and disorders.

A

genotype

34
Q

A person who has one mutated allele for a recessive genetic disorder is a _____.

A

carrier

35
Q

An AR trait carrier is usually not affected and can pass the trait to his or her children. For some AR disorders, a carrier may have very _____ manifestations.

A

mild

36
Q

A person who has only one sickle cell gene allele and one normal gene allele for beta glob in usually has about _____% normal hemoglobin and rarely expresses sickle cell health problems.

A

50

37
Q

The unique genes on the Y chromosome are all ______ in origin and are expressed only in _____.

A
  1. paternal

2. males

38
Q

_____ of the unique Y chromosome genes are important for male anatomic and sexual development and fertility.

A

Most

39
Q

Females have _____ the number of X chromosomes than males.

A

twice

40
Q

Because X-linked alleles in the male have no corresponding allele in the Y chromosome, any X-linked allele in a male is expressed as if it were a _____ allele, a condition known as _____.

A
  1. dominant

2. hemizygosity

41
Q

X-linked recessive genes have _____ expression in males and _____ expression in females.

A
  1. dominant

2. recessive

42
Q

X-linked recessive traits are also known as _____-_____ recessive traits.

A

sex-linked

43
Q

The incidence of a _____-_____ trait is much higher among males in a family than among females (and my be exclusive to males).

A

sex-linked

44
Q

A sex-linked recessive trait _____ be transmitted from father to son.

A

cannot

45
Q

Sex-linked recessive trait transmission occurs from an affected father to _____ daughters ( who will be obligate carriers) and from a carrier mother to _____ sons and daughters.

A
  1. all

2. both

46
Q

Female carriers of a sex-linked recessive trait have a _____% risk of transmitting the gene to their children with each pregnancy.

A

50

47
Q

If no sons are born to carrier mothers, the sex-linked recessive trait may not be expressed _____ for many generations.

A

overtly

48
Q

If no _____ are born to affected fathers with a sex-linked recessive trait who have children with non carrier mothers, the trait is not transmitted further.

A

daughters

49
Q

Depending on the sex-linked recessive trait disorder, females who are _____ may not survive pregnancy or will have more severe disease.

A

homozygous

50
Q

X-linked dominant disorders are _____.

A

rare

51
Q

Females do express the X-linked dominant disorder in the heterozygous state and have a _____% chance of transmitting the trait with each pregnancy to children of either gender.

A

50

52
Q

Males who are homozygous for the X-linked dominant allele are _____ profoundly affected than heterozygous females.

A

more

53
Q

A father affected by an X-linked dominant disorder transmits the disorder to _____ of his daughters (who then express the disorder) and to _____ of his sons.

A
  1. all

2. none

54
Q

A special genetic feature is present in the somatic cells of females related o the issue of unequal gene alleles for the approximate _____ (#) genes on the X chromosome.

A

1500

55
Q

Within the first week of embryonic life in females, these cells all randomly inactivate one _____ chromosome in every cell, to prevent XX females from having an excessive “dose” of the X chromosome genes coding for somatic cell function.

A

X

56
Q

As early embryonic cells commit to become a specific type of tissue or organ, the early organ contains only a few cells, and usually this small number of cells is not _____ in maternal-to-paternal percentage for X inactivation.

A

equal