Chaper 14 - Human Chromosomes Flashcards

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0
Q

when are the chromosomes studied?

A

the chromosomes are studied during mitosis, when they are fully condensed.

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1
Q

what is a human genome? where is it carried?

A

a human genome is a full set of genetic information. it is carried in the DNA.

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2
Q

what is a karyotype?

A

a karyotype is a picture of the complete set of chromosomes, grouped in pairs an arranged from biggest to smallest.

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3
Q

how many chromosomes do humans have?

A

humans have 46 pairs of chromosomes, or two sets of 23.

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4
Q

what are the sex chromosomes? how many are there?

A

the sex chromosomes are the chromosomes that determine an individual’s sex. There are 2 sex chromosomes.

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5
Q

what are the sex chromosomes for female? and for male?

A

Female: XX
Male: XY

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6
Q

what are the autosomal chromosomes?

A

the res of the chromosomes that are not sex chromosomes (44 in total) are the autosomal chromosomes.

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7
Q

what gene helps determine skin and hair color?

A

the MC1R determines skin and hair color.

dominant: dark hair.
recessive: red hair.

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8
Q

what is a sex linked gene? what does it determine?

A

a sex linked gene is a gene that is located on the sex chromosome and usually determines

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9
Q

what chromosome carries man related traits only?

A

the Y chromosome.

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10
Q

what is a Barr body? why is it formed?

A

the barr body is a dense region in the nucleus that is formed when genes in one of the X chromosomes randomly switch off.

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11
Q

what is a pedigree?

A

a pedigree is a chart that shows the relationships within a family used to analyze the pattern of inheritance followed by a particular trait.

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12
Q

what can a pedigree tell you?

A

a pedigree can tell you if an allele for a trait is dominant or recessive, autosomal or sex linked.

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13
Q

how do molecules affect phenotypes?

A

there is a molecular basis for genetic disorders.

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14
Q

what is the cause sickle cell disease? what is the consequence?

A

a disorder caused by a defective allele for beta-globin. The blood cells become more rigid and they get stuck in the capillaries.

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15
Q

what is the cause of cystic fibrosis? what is the consequence? is it recessive or dominant?

A

CF is caused by the deletion of three genetic bases in the gene for a protein called CFTR. The protein is folded improperly and is destroyed.

16
Q

what is the cause of huntington’s disease? what is the consequence?

A

HD is caused by a dominant allele for a protein found in brain cells. the consequence is that the CAG repeats more that 40 times.

17
Q

what causes chromosomal disorder? what are the consequences?

A

chromosomal disorders are caused by nondisjunction, a common error in meiosis where homologous chromosomes fail to separate. it can result in a disorder of chromosome numbers.

18
Q

what are some chromosomal disorders?

A

Chromosomal disorders include
down syndrome
Turner’s syndrome
Klinefelter’s syndrome