Genetics and Inheritance Flashcards
What are genetic changes that are very minor and do not affect how a gene works called?
single nucleotide polymorphisms
what are genetic changes that affect how a gene works and can lead to disease called?
mutations
what is Mendelian inheritance?
diseases caused by mutations in a single gene are inherited in a simple pattern
What are MSX1 and MSX2 important for? What kind of gene are they?
HOMEOBOX GENES. Important for initiation, patterning, and morphodifferentiation of tooth buds.
what are the roles of homeobox genes?
control craniofacial shape and patterning, control dentition patterning.
what is pleiotropy
one gene affecting many characters (aka a gene affects two or more seemingly unrelated phenotypic traits)
what is an example of a dominant single gene genetic disease?
osteogenesis imperfecta (crankiosynostosis/ crouzon syndrome, cleidocranial dysostosis, c=van der woode, DENTINOGENESIS IMPERFECTA).
what is an example of a recessive single gene genetic disease?
cystic fibrosis
what is an example of an x-linked single gene genetic disease?
amelogenesis imperfecta
a mutation in what gene causes achondroplasia?
FGFR3
what does mutation in gene FGFR3 cause?
achondroplasia