Genetics Flashcards

1
Q

blood type or eye color is an example of

A

phenotype

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2
Q

The total hereditary info present in an individual: the pair of gees for each characteristic is known as

A

genotype

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3
Q

what is a Mendelian disorder?

A

single-gene disorder: a mutation in a single locus or gene, in one or both members of a gene pair

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4
Q

In autosomal dominant inheritance, how many mutated copies of a gene in each cell need for a person to be affected?

A

one

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5
Q

how many generations to autosomal dominant inheritance occur?

A

every generation

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6
Q

name two autosomal dominant inheritance disorders

A

Huntingtons disease and neurofibromatosis type 1

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7
Q

name 3 autosomal RECESSIVE inheritance abmormalities

A

sickle cell anemia, cystic fibrosis, thalassemia

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8
Q

name an x lined dominant inheritance

A

fragile x syndrome

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9
Q

how many copies of genes are present in each cell of an affected person in autosomal recessive inheritance?

A

two

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10
Q

how is autosomal recessive inheritance passed on through the generation?

A

not typically seen in every generation

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11
Q

do autosomal recessive inheritance have parents that are carriers or have the disease?

A

parents are the carriers and are unaffected and each carry a single mutated gene

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12
Q

x lined dominant inheritance- more males or females?

A

females more frequently

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13
Q

x linked dominant inheritance-can father transfer x lined dominant traits to son?

A

no

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14
Q

x linked RECESSIVE INHERITANCE-who is affected more-men or women?

A

males more frequently females

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15
Q

example of x linked recessive

A

hemophelia

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16
Q

example of x lined dominant

A

fragile x syndrome

17
Q

what are Y linked diseases related to?

A

sexual determination
cellular functions
bone development

18
Q

name an autosomal recessive disease that results from absence of an essential enzyme causing incomplete metabolism of proteins, fats or sugars

A

PKU phenylketonia-inborn error of metabolism

19
Q

what is autosome

A

any chromosone other than sex (X or Y chromosomes)

20
Q

what is a genome

A

complete set of chromosomes or the entire genetic information present in a cell

21
Q

what is euploidy

A

state of complete sets of chromosomes

22
Q

wat is aneuploidy

A

state of having an abnormal number of chromosomes

23
Q

what is polyploidy

A

abnormal number of haploid chromosome complements

24
Q

what is deletion

A

portion of a chromosome that is missing

25
Q

what is ring chromosome

A

when deletions occur at both ends of the chromosome, the ends may untie to form a ring

26
Q

what is isochromosomes

A

composed of either two short arms o two long arms of the chromosome fused together

27
Q

what is karyotyping

A

A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term is also used for the complete set of chromosomes in a species or in an individual organism and for a test that detects this complement or measures the number.

28
Q

why is parental karyotyping used

A

may be indicated in recurrent pregnancy losses