Genetics and Inheritance Flashcards

1
Q

What are genetic changes that are very minor and do not affect how a gene works called?

A

single nucleotide polymorphisms

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2
Q

what are genetic changes that affect how a gene works and can lead to disease called?

A

mutations

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3
Q

what is Mendelian inheritance?

A

diseases caused by mutations in a single gene are inherited in a simple pattern

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4
Q

What are MSX1 and MSX2 important for? What kind of gene are they?

A

HOMEOBOX GENES. Important for initiation, patterning, and morphodifferentiation of tooth buds.

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5
Q

what are the roles of homeobox genes?

A

control craniofacial shape and patterning, control dentition patterning.

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6
Q

what is pleiotropy

A

one gene affecting many characters (aka a gene affects two or more seemingly unrelated phenotypic traits)

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7
Q

what is an example of a dominant single gene genetic disease?

A

osteogenesis imperfecta (crankiosynostosis/ crouzon syndrome, cleidocranial dysostosis, c=van der woode, DENTINOGENESIS IMPERFECTA).

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8
Q

what is an example of a recessive single gene genetic disease?

A

cystic fibrosis

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9
Q

what is an example of an x-linked single gene genetic disease?

A

amelogenesis imperfecta

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10
Q

a mutation in what gene causes achondroplasia?

A

FGFR3

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11
Q

what does mutation in gene FGFR3 cause?

A

achondroplasia

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